#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_ACHILLES_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
Unknown	0	broad.mit.edu	37	1	13183170	13183170	+	IGR	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:13183170G>C								RP13-221M14.3 (18702 upstream) : PRAMEF26 (33185 downstream)																							ATCTTTACATGAGTCTCATCT	0.468																																							uc010obg.1		NA																	0					0						c.(703-705)CAT>GAT		heterogeneous nuclear ribonucleoprotein C-like							136.0	107.0	116.0					1																	13183170		691	1591	2282	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183170G>C																													1.37:g.13183170G>C							p.H235D	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	798	-			235						Missense_Mutation	SNP		37	c.703C>G																																																																																				0	0.468									23	244	0	0	0	0.012319	0	23	244				
GNL2	29889	broad.mit.edu	37	1	38048524	38048524	+	Nonsense_Mutation	SNP	G	G	C	rs574273717		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:38048524G>C	ENST00000373062.3	-	7	748	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	217	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)	p.S217*(1)		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)				TACAACATCTGATGAATCTAT	0.373																																							uc001cbk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(649-651)TCA>TGA		guanine nucleotide binding protein-like 2							110.0	104.0	106.0					1																	38048524		2203	4300	6503	SO:0001587	stop_gained	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38048524G>C	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.650C>G	1.37:g.38048524G>C	ENSP00000362153:p.Ser217*					GNL2_uc010oif.1_Nonsense_Mutation_p.S58*	p.S217*	NM_013285	NP_037417	Q13823	NOG2_HUMAN			7	813	-		Myeloproliferative disorder(586;0.0393)	217					Q9BWN7	Nonsense_Mutation	SNP	ENST00000373062.3	37	c.650C>G	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.070555|8.070555	0.98638|0.98638	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000538069|ENST00000373062;ENST00000545489	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.82102|.	0.4964|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83505|.	0.0077|.	3|.	.|0.87932	.|D	.|0	-12.6002|-12.6002	19.9695|19.9695	0.97278|0.97278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	1|217;58	.|.	.|ENSP00000362153:S217X	Q|S	-|-	1|2	0|0	GNL2|GNL2	37821111|37821111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.822000|9.822000	0.99363|0.99363	2.719000|2.719000	0.93026|0.93026	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.373	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		8	120	0	0	0	0.00308	0	8	120				
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																							uc001ccj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CCC>TCC		four and a half LIM domains 3							92.0	93.0	92.0					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_uc001cck.2_Missense_Mutation_p.P143S|FHL3_uc001ccl.2_Missense_Mutation_p.P143S|FHL3_uc001ccm.2_Missense_Mutation_p.P35S|FHL3_uc009vvl.1_Missense_Mutation_p.P143S	p.P143S	NM_004468	NP_004459	Q13643	FHL3_HUMAN			4	514	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	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	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		5	195	0	0	0	0.001168	0	5	195				
RLF	6018	broad.mit.edu	37	1	40701980	40701980	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:40701980A>G	ENST00000372771.4	+	8	1633	c.1606A>G	c.(1606-1608)Aga>Gga	p.R536G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	536					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R536G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAGGAGAAAAGAGACAAAAA	0.358																																							uc001cfc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1606-1608)AGA>GGA		rearranged L-myc fusion							63.0	69.0	67.0					1																	40701980		2201	4297	6498	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701980A>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1606A>G	1.37:g.40701980A>G	ENSP00000361857:p.Arg536Gly					RLF_uc001cfd.3_Missense_Mutation_p.R227G	p.R536G	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1637	+	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)	536					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1606A>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634950	0.29068	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.36520	1.25	6.07	4.89	0.63831	.	0.182885	0.64402	D	0.000012	T	0.38719	0.1051	L	0.53249	1.67	0.41659	D	0.989171	P;B	0.40794	0.729;0.296	B;B	0.43950	0.437;0.06	T	0.14896	-1.0456	10	0.30854	T	0.27	-19.1322	13.1048	0.59241	0.8665:0.1335:0.0:0.0	.	229;536	F5H2M5;Q13129	.;RLF_HUMAN	G	536;229	ENSP00000361857:R536G	ENSP00000361857:R536G	R	+	1	2	RLF	40474567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.920000	0.56446	2.326000	0.78906	0.533000	0.62120	AGA		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		3	138	0	0	0	0.004672	0	3	138				
FOXJ3	22887	broad.mit.edu	37	1	42744180	42744180	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:42744180C>G	ENST00000372572.1	-	5	519	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	FOXJ3_ENST00000372573.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000361776.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000545068.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000361346.1_Missense_Mutation_p.E70Q	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	70					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E70Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTTGGACTTCTTCCTGGTCC	0.403																																							uc001che.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)GAA>CAA		forkhead box J3							228.0	224.0	226.0					1																	42744180		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.chr1:42744180C>G	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.208G>C	1.37:g.42744180C>G	ENSP00000361653:p.Glu70Gln					FOXJ3_uc001chf.2_Missense_Mutation_p.E70Q|FOXJ3_uc001chg.2_Missense_Mutation_p.E70Q|FOXJ3_uc001chh.1_Missense_Mutation_p.E70Q	p.E70Q	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			5	520	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	70					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.208G>C	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479999	0.84747	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96073	-3.41;-3.41;-3.41;-3.4;-3.41;-3.59;-3.9	5.78	5.78	0.91487	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.272209	0.35096	N	0.003458	D	0.96090	0.8726	L	0.34521	1.04	0.58432	D	0.999999	P;D	0.69078	0.55;0.997	P;D	0.75484	0.46;0.986	D	0.95672	0.8724	10	0.42905	T	0.14	.	17.5103	0.87758	0.0:1.0:0.0:0.0	.	70;70	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	Q	70;70;70;70;70;70;27	ENSP00000361654:E70Q;ENSP00000361653:E70Q;ENSP00000354620:E70Q;ENSP00000354449:E70Q;ENSP00000439044:E70Q;ENSP00000393408:E70Q;ENSP00000403060:E27Q	ENSP00000354620:E70Q	E	-	1	0	FOXJ3	42516767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.736000	0.93811	0.557000	0.71058	GAA		0.403	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		20	308	0	0	0	0.012319	0	20	308				
LEPRE1	64175	broad.mit.edu	37	1	43215957	43215957	+	Silent	SNP	G	G	A	rs140334418	byFrequency	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:43215957G>A	ENST00000296388.5	-	11	1671	c.1620C>T	c.(1618-1620)aaC>aaT	p.N540N	LEPRE1_ENST00000397054.3_Silent_p.N540N|LEPRE1_ENST00000236040.4_Silent_p.N540N|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	540					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.N540N(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCGTCACGTTGTAGTACA	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		16277	0.002		0.0	False		,,,				2504	0.0						uc001chv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)	4						c.(1618-1620)AAC>AAT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	,	1,4405	2.1+/-5.4	0,1,2202	125.0	100.0	109.0		1620,1620	-4.1	1.0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LEPRE1	NM_001146289.1,NM_022356.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	540/698,540/737	43215957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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 3-dioxygenase activity	g.chr1:43215957G>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1620C>T	1.37:g.43215957G>A						LEPRE1_uc001chw.2_Silent_p.N540N|LEPRE1_uc001chx.3_Silent_p.N540N	p.N540N	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			11	1733	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	540					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.1620C>T	CCDS472.2																																																																																				0.562	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		4	44	0	0	0	0.000602	0	4	44				
ZNF691	51058	broad.mit.edu	37	1	43316857	43316857	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:43316857G>T	ENST00000372506.1	+	4	568	c.228G>T	c.(226-228)agG>agT	p.R76S	ZNF691_ENST00000372507.1_Missense_Mutation_p.R76S|ZNF691_ENST00000397044.3_Missense_Mutation_p.R107S|ZNF691_ENST00000372508.3_Missense_Mutation_p.R76S|ZNF691_ENST00000372502.1_Missense_Mutation_p.R98S|ZNF691_ENST00000372504.1_Missense_Mutation_p.R98S	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	107						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R76S(1)|p.R107S(1)		large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCATCCAAGGCATGAGGCAG	0.512																																							uc001cih.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(307-309)AGG>AGT		zinc finger protein 691							146.0	147.0	147.0					1																	43316857		2203	4300	6503	SO:0001583	missense	51058					nucleus	DNA binding|zinc ion binding	g.chr1:43316857G>T		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"""Zinc fingers, C2H2-type"""	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.228G>T	1.37:g.43316857G>T	ENSP00000361584:p.Arg76Ser					ZNF691_uc001cig.2_Missense_Mutation_p.R76S|ZNF691_uc009vwm.2_Missense_Mutation_p.R96S	p.R103S	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN			2	360	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	107					A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	c.309G>T	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071714	0.20147	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000397034;ENST00000372503;ENST00000372502	T;T;T;T;T;T;T	0.09445	3.02;3.02;3.02;3.0;2.98;3.9;2.98	5.23	-1.3	0.09259	.	0.616385	0.16362	N	0.217705	T	0.12689	0.0308	M	0.86651	2.83	0.09310	N	1	B;B	0.21821	0.025;0.061	B;B	0.12837	0.006;0.008	T	0.33059	-0.9883	10	0.72032	D	0.01	-11.7412	1.2333	0.01948	0.4186:0.1549:0.2785:0.148	.	107;107	B4DJR7;Q5VV52	.;ZN691_HUMAN	S	76;76;76;107;98;107;107;98	ENSP00000361586:R76S;ENSP00000361585:R76S;ENSP00000361584:R76S;ENSP00000380237:R107S;ENSP00000361582:R98S;ENSP00000380228:R107S;ENSP00000361580:R98S	ENSP00000361580:R98S	R	+	3	2	ZNF691	43089444	0.000000	0.05858	0.005000	0.12908	0.611000	0.37282	-0.082000	0.11304	-0.100000	0.12241	0.498000	0.49722	AGG		0.512	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		11	350	1	0	3.07112e-06	0.010729	3.35031e-06	11	350				
CPT2	1376	broad.mit.edu	37	1	53676597	53676597	+	Silent	SNP	C	C	T	rs576822710		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:53676597C>T	ENST00000371486.3	+	4	1766	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	417					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)	p.F417F(1)		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)	AACTCAACTTCGAGCTGACTG	0.483																																							uc001cvb.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1249-1251)TTC>TTT		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						55.0	56.0	56.0					1																	53676597		2203	4300	6503	SO:0001819	synonymous_variant	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676597C>T	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.1251C>T	1.37:g.53676597C>T							p.F417F	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	1766	+			417			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Silent	SNP	ENST00000371486.3	37	c.1251C>T	CCDS575.1																																																																																				0.483	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		5	59	0	0	0	0.001984	0	5	59				
LPHN2	23266	broad.mit.edu	37	1	82456080	82456080	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:82456080T>C	ENST00000370728.1	+	25	4276	c.3631T>C	c.(3631-3633)Tca>Cca	p.S1211P	LPHN2_ENST00000370730.1_Missense_Mutation_p.S1168P|LPHN2_ENST00000370723.1_Missense_Mutation_p.S1213P|LPHN2_ENST00000370713.1_Silent_p.I1122I|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1226P|LPHN2_ENST00000319517.6_Missense_Mutation_p.S1155P|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1183P|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1226P|LPHN2_ENST00000359929.3_Missense_Mutation_p.S1155P|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1183P|LPHN2_ENST00000370721.1_Missense_Mutation_p.S1136P|LPHN2_ENST00000335786.5_Missense_Mutation_p.S1168P|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1213P|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1211					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)	p.S1226P(1)|p.S1155P(1)		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)		TTCAGGACATTCACTGAACAA	0.403																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3463-3465)TCA>CCA		latrophilin 2 precursor							137.0	130.0	132.0					1																	82456080		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.chr1:82456080T>C	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.3631T>C	1.37:g.82456080T>C	ENSP00000359763:p.Ser1211Pro					LPHN2_uc001dis.2_Missense_Mutation_p.S135P|LPHN2_uc001diu.2_Missense_Mutation_p.S1155P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_Silent_p.I1122I|LPHN2_uc001diw.2_Missense_Mutation_p.S782P	p.S1155P	NM_012302	NP_036434	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)	21	3644	+			1211			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3463T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.61|10.61	1.398603|1.398603	0.25205|0.25205	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.70282	.|-0.41;-0.43;-0.47;-0.41;-0.37;-0.32;-0.43;-0.43;-0.37;-0.32;-0.41;-0.47	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.075723	.|0.56097	.|D	.|0.000035	T|T	0.66954|0.66954	0.2842|0.2842	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999994|0.999994	.|B;D	.|0.53462	.|0.003;0.96	.|B;P	.|0.53450	.|0.011;0.726	T|T	0.69347|0.69347	-0.5169|-0.5169	5|10	.|0.45353	.|T	.|0.12	.|.	15.2947|15.2947	0.73894|0.73894	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1155;135	.|O95490-2;B3KVU1	.|.;.	S|P	222|1136;1211;1168;1183;1226;1213;1155;1155;1226;1213;1183;1168	.|ENSP00000359756:S1136P;ENSP00000359763:S1211P;ENSP00000359765:S1168P;ENSP00000359762:S1183P;ENSP00000359760:S1226P;ENSP00000359758:S1213P;ENSP00000353006:S1155P;ENSP00000322270:S1155P;ENSP00000359752:S1226P;ENSP00000378344:S1213P;ENSP00000271029:S1183P;ENSP00000337306:S1168P	.|ENSP00000271029:S1183P	F|S	+|+	2|1	0|0	LPHN2|LPHN2	82228668|82228668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.922000|5.922000	0.70036|0.70036	2.005000|2.005000	0.58758|0.58758	0.460000|0.460000	0.39030|0.39030	TTC|TCA		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		13	224	0	0	0	0.00499	0	13	224				
ARHGAP29	9411	broad.mit.edu	37	1	94639514	94639514	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:94639514G>C	ENST00000260526.6	-	23	3879	c.3697C>G	c.(3697-3699)Cct>Gct	p.P1233A	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1233					positive regulation of Rho GTPase activity (GO:0032321)|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)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.P1233A(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCACATCAGGCAAGCCAAGC	0.473																																							uc001dqj.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(3697-3699)CCT>GCT		PTPL1-associated RhoGAP 1							124.0	117.0	119.0					1																	94639514		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639514G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3697C>G	1.37:g.94639514G>C	ENSP00000260526:p.Pro1233Ala					ARHGAP29_uc009wdq.1_Intron	p.P1233A	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	4066	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1233					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3697C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874608	0.51695	.	.	ENSG00000137962	ENST00000260526	T	0.21031	2.03	5.49	4.57	0.56435	.	0.000000	0.38164	N	0.001784	T	0.07863	0.0197	L	0.38838	1.175	0.80722	D	1	B	0.22604	0.072	B	0.24848	0.056	T	0.08411	-1.0723	10	0.35671	T	0.21	-19.2804	8.1011	0.30857	0.0812:0.0:0.6673:0.2515	.	1233	Q52LW3	RHG29_HUMAN	A	1233	ENSP00000260526:P1233A	ENSP00000260526:P1233A	P	-	1	0	ARHGAP29	94412102	0.310000	0.24527	0.822000	0.32727	0.592000	0.36648	0.604000	0.24164	2.596000	0.87737	0.591000	0.81541	CCT		0.473	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		14	214	0	0	0	0.004007	0	14	214				
COL11A1	1301	broad.mit.edu	37	1	103348790	103348790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:103348790C>T	ENST00000370096.3	-	64	5248	c.4936G>A	c.(4936-4938)Gag>Aag	p.E1646K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1530K|COL11A1_ENST00000358392.2_Missense_Mutation_p.E1658K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1607K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1646	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	p.E1658K(1)|p.E1658*(1)|p.E1646*(1)|p.E1646K(1)		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)		ATGCAAGTCTCACCACCAGAT	0.378																																							uc001dul.2		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4936-4938)GAG>AAG		alpha 1 type XI collagen isoform A							147.0	142.0	143.0					1																	103348790		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.chr1:103348790C>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.4936G>A	1.37:g.103348790C>T	ENSP00000359114:p.Glu1646Lys					COL11A1_uc001duk.2_Missense_Mutation_p.E842K|COL11A1_uc001dum.2_Missense_Mutation_p.E1658K|COL11A1_uc001dun.2_Missense_Mutation_p.E1607K|COL11A1_uc009weh.2_Missense_Mutation_p.E1530K	p.E1646K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	64	5254	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1646			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4936G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543937	0.86022	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.996	D;D;D;D;D	0.81914	0.995;0.991;0.991;0.995;0.987	D	0.90965	0.4815	10	0.87932	D	0	.	19.4353	0.94792	0.0:1.0:0.0:0.0	.	1530;1607;1658;1646;866	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1646;1658;1607;866;1530	ENSP00000359114:E1646K;ENSP00000351163:E1658K;ENSP00000302551:E1607K;ENSP00000426533:E1530K	ENSP00000302551:E1607K	E	-	1	0	COL11A1	103121378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.603000	0.88011	0.591000	0.81541	GAG		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	125	0	0	0	0.009096	0	4	125				
WDR47	22911	broad.mit.edu	37	1	109525326	109525326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:109525326C>G	ENST00000369962.3	-	12	2393	c.2171G>C	c.(2170-2172)gGa>gCa	p.G724A	WDR47_ENST00000357672.3_Missense_Mutation_p.G696A|WDR47_ENST00000361054.3_Missense_Mutation_p.G696A|WDR47_ENST00000369965.4_Missense_Mutation_p.G725A|WDR47_ENST00000400794.3_Missense_Mutation_p.G732A			O94967	WDR47_HUMAN	WD repeat domain 47	724					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.G725A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TAAAATAGCTCCTCCGCTTTC	0.413																																							uc001dwj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2170-2172)GGA>GCA		WD repeat domain 47 isoform 3							99.0	99.0	99.0					1																	109525326		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109525326C>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2171G>C	1.37:g.109525326C>G	ENSP00000358979:p.Gly724Ala					WDR47_uc001dwl.2_Missense_Mutation_p.G732A|WDR47_uc001dwi.2_Missense_Mutation_p.G725A|WDR47_uc010ovf.1_Missense_Mutation_p.G649A	p.G724A	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	12	2547	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	724			WD 3.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.2171G>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815014	0.90790	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.25	5.25	0.73442	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	0.84370	0.5457	N	0.22421	0.69	0.80722	D	1	B;P;D;B	0.76494	0.104;0.539;0.999;0.104	B;B;D;B	0.63793	0.234;0.132;0.918;0.188	D	0.86778	0.1977	10	0.59425	D	0.04	-35.2466	18.8357	0.92162	0.0:1.0:0.0:0.0	.	696;732;724;725	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	732;724;696;725;696	ENSP00000383599:G732A;ENSP00000358979:G724A;ENSP00000354339:G696A;ENSP00000358982:G725A;ENSP00000350301:G696A	ENSP00000350301:G696A	G	-	2	0	WDR47	109326849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.717000	0.68446	2.452000	0.82932	0.561000	0.74099	GGA		0.413	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		7	198	0	0	0	0.004482	0	7	198				
CD53	963	broad.mit.edu	37	1	111434033	111434033	+	Start_Codon_SNP	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:111434033G>A	ENST00000271324.5	+	2	115	c.3G>A	c.(1-3)atG>atA	p.M1I	CD53_ENST00000429072.2_Start_Codon_SNP_p.M1I	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	1					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M1I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATCACGGCATGGGCATGAGTA	0.428																																							uc001dzw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		CD53 antigen							278.0	230.0	246.0					1																	111434033		2203	4300	6503	SO:0001582	initiator_codon_variant	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111434033G>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.3G>A	1.37:g.111434033G>A	ENSP00000271324:p.Met1Ile					CD53_uc001dzx.2_Missense_Mutation_p.M1I|CD53_uc010owa.1_Missense_Mutation_p.M1I|CD53_uc001dzy.2_Missense_Mutation_p.M1I	p.M1I	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	3	174	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	1			Cytoplasmic (Potential).		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.3G>A	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457031	0.63401	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;T	0.25414	3.2;1.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	.	.	.	0.22982	N	0.998475	P;D	0.69078	0.924;0.997	P;D	0.75484	0.878;0.986	T	0.27739	-1.0065	9	0.87932	D	0	.	17.0405	0.86488	0.0:0.0:1.0:0.0	.	1;1	B4DQB5;P19397	.;CD53_HUMAN	I	1	ENSP00000412250:M1I;ENSP00000271324:M1I	ENSP00000271324:M1I	M	+	3	0	CD53	111235556	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.949000	0.56668	2.705000	0.92388	0.650000	0.86243	ATG		0.428	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	Missense_Mutation	7	123	0	0	0	0.004482	0	7	123				
HIPK1	204851	broad.mit.edu	37	1	114483059	114483059	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:114483059C>G	ENST00000369558.1	+	2	286	c.54C>G	c.(52-54)ttC>ttG	p.F18L	HIPK1_ENST00000369561.4_Missense_Mutation_p.F18L|HIPK1_ENST00000369555.2_Missense_Mutation_p.F18L|HIPK1_ENST00000426820.2_Missense_Mutation_p.F18L|HIPK1_ENST00000369559.4_Missense_Mutation_p.F18L|HIPK1_ENST00000369554.2_Missense_Mutation_p.F18L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	18					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)	p.F18L(2)		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)		CGAGTGCCTTCTGCAGTGCGA	0.463																																							uc001eem.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(52-54)TTC>TTG		homeodomain-interacting protein kinase 1 isoform							176.0	192.0	186.0					1																	114483059		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483059C>G	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.54C>G	1.37:g.114483059C>G	ENSP00000358571:p.Phe18Leu					HIPK1_uc001eel.2_Missense_Mutation_p.F18L|HIPK1_uc001een.2_Missense_Mutation_p.F18L	p.F18L	NM_198268	NP_938009	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)	2	215	+	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)	18					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.54C>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854914	0.51376	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.58210	0.52;0.41;0.46;0.35;0.35;0.46;0.44;0.49;0.48	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.39226	0.1070	M	0.78637	2.42	0.80722	D	1	P;P	0.41673	0.646;0.759	B;B	0.34590	0.111;0.186	T	0.55173	-0.8182	10	0.87932	D	0	.	11.6208	0.51117	0.0:0.9184:0.0:0.0816	.	18;18	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	L	89;18;18;18;18;18;18;18;18	ENSP00000407442:F89L;ENSP00000358572:F18L;ENSP00000409673:F18L;ENSP00000358567:F18L;ENSP00000358568:F18L;ENSP00000358571:F18L;ENSP00000358574:F18L;ENSP00000422322:F18L;ENSP00000426695:F18L	ENSP00000358567:F18L	F	+	3	2	HIPK1	114284582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.691000	0.47010	2.271000	0.75665	0.650000	0.86243	TTC		0.463	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		30	506	0	0	0	0.007291	0	30	506				
CSDE1	7812	broad.mit.edu	37	1	115273174	115273174	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:115273174C>T	ENST00000358528.4	-	11	1572	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	CSDE1_ENST00000438362.2_Silent_p.G428G|CSDE1_ENST00000339438.6_Silent_p.G351G|CSDE1_ENST00000530886.1_Silent_p.G252G|CSDE1_ENST00000369530.1_Silent_p.G397G|CSDE1_ENST00000261443.5_Silent_p.G351G|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000534699.1_Silent_p.G382G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	382	CSD 5.			IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787). {ECO:0000305}.	male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G382G(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GGAGCTGGTTCCCATCCAGAA	0.418																																							uc001efk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1144-1146)GGG>GGA		upstream of NRAS isoform 1							133.0	123.0	126.0					1																	115273174		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115273174C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1146G>A	1.37:g.115273174C>T						CSDE1_uc001efi.2_Silent_p.G428G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.G351G|CSDE1_uc001efm.2_Silent_p.G397G|CSDE1_uc009wgv.2_Silent_p.G382G|CSDE1_uc001efn.2_Silent_p.G351G	p.G382G	NM_001007553	NP_001007554	O75534	CSDE1_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)	11	1612	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	382	IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787).		CSD 5.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1146G>A	CCDS30812.1																																																																																				0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		8	125	0	0	0	0.00308	0	8	125				
SLC27A3	11000	broad.mit.edu	37	1	153745528	153745528	+	5'Flank	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:153745528G>A	ENST00000368661.3	+	0	0				INTS3_ENST00000476843.1_3'UTR|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000435409.2_Missense_Mutation_p.E1008K|INTS3_ENST00000512605.1_Missense_Mutation_p.E868K|INTS3_ENST00000318967.2_Missense_Mutation_p.E1008K|INTS3_ENST00000456435.1_Missense_Mutation_p.E868K	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.E1008K(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCAATGCCGAAGAAGAGTC	0.607																																							uc009wom.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3022-3024)GAA>AAA		integrator complex subunit 3							96.0	103.0	101.0					1																	153745528		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745528G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745528G>A	Exception_encountered					INTS3_uc001fct.2_Missense_Mutation_p.E1008K|INTS3_uc001fcu.2_Missense_Mutation_p.E700K|INTS3_uc001fcv.2_Missense_Mutation_p.E802K|INTS3_uc010peb.1_Missense_Mutation_p.E868K|INTS3_uc001fcw.2_Missense_Mutation_p.E521K|INTS3_uc010pec.1_Missense_Mutation_p.E521K|INTS3_uc001fcy.2_Missense_Mutation_p.E371K|INTS3_uc001fcx.2_Missense_Mutation_p.E305K	p.E1008K	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		30	3243	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1009					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.3022G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037488	0.75617	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.36672	1.1	0.31494	N	0.665602	D;D;D	0.65815	0.995;0.992;0.995	D;P;D	0.70716	0.97;0.905;0.956	T	0.15037	-1.0451	9	0.08599	T	0.76	.	15.0624	0.71964	0.0:0.0:1.0:0.0	.	868;1009;1008	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	K	1008;868;1008;868	.	ENSP00000318641:E1008K	E	+	1	0	INTS3	152012152	1.000000	0.71417	0.951000	0.38953	0.619000	0.37552	8.442000	0.90317	2.620000	0.88729	0.561000	0.74099	GAA		0.607	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		36	261	0	0	0	0.003271	0	36	261				
ADAM15	8751	broad.mit.edu	37	1	155029447	155029447	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:155029447C>T	ENST00000356955.2	+	11	1119	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Silent_p.L340L|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Silent_p.L340L|ADAM15_ENST00000447332.3_Silent_p.L324L|ADAM15_ENST00000531455.1_Silent_p.L350L|ADAM15_ENST00000359280.4_Silent_p.L340L|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.L340L|ADAM15_ENST00000449910.2_Silent_p.L340L|ADAM15_ENST00000271836.6_Silent_p.L340L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	340	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)	p.L340L(1)		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)			CACCAGCATCCTGGGAGTCGC	0.627																																							uc001fgr.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1018-1020)CTG>TTG		a disintegrin and metalloproteinase domain 15							70.0	68.0	69.0					1																	155029447		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:155029447C>T	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.1018C>T	1.37:g.155029447C>T						ADAM15_uc001fgq.1_Silent_p.L25L|ADAM15_uc010pet.1_Silent_p.L324L|ADAM15_uc010peu.1_Silent_p.L357L|ADAM15_uc001fgt.1_Silent_p.L340L|ADAM15_uc010pev.1_Silent_p.L350L|ADAM15_uc001fgs.1_Silent_p.L340L|ADAM15_uc001fgu.1_Silent_p.L340L|ADAM15_uc001fgw.1_Silent_p.L340L|ADAM15_uc001fgv.1_Silent_p.L340L|ADAM15_uc001fgx.1_Silent_p.L340L|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	p.L340L	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		11	1119	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		340			Peptidase M12B.|Extracellular (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.1018C>T	CCDS1087.1																																																																																				0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		15	126	0	0	0	0.003163	0	15	126				
GBA	2629	broad.mit.edu	37	1	155207965	155207965	+	Missense_Mutation	SNP	C	C	T	rs398123534		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:155207965C>T	ENST00000327247.5	-	7	953	c.721G>A	c.(721-723)Gga>Aga	p.G241R	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000427500.3_Missense_Mutation_p.G192R|GBA_ENST00000368373.3_Missense_Mutation_p.G241R|GBA_ENST00000428024.3_Missense_Mutation_p.G154R|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Missense_Mutation_p.G128R	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	241			G -> E (in GD).|G -> R (in GD; type 1 and type 2; gene conversion). {ECO:0000269|PubMed:10360404, ECO:0000269|PubMed:10796875, ECO:0000269|PubMed:12204005, ECO:0000269|PubMed:15605411, ECO:0000269|PubMed:8294033, ECO:0000269|PubMed:8790604, ECO:0000269|PubMed:9153297}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.G241R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TAGATGTCTCCGGGCTGTCCC	0.567									Gaucher disease type I																														uc001fjh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CM940807	GBA	M		c.(721-723)GGA>AGA		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						113.0	95.0	101.0					1																	155207965		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207965C>T	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.721G>A	1.37:g.155207965C>T	ENSP00000314508:p.Gly241Arg					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.G128R|GBA_uc010pfx.1_Missense_Mutation_p.G192R|GBA_uc001fji.2_Missense_Mutation_p.G241R|GBA_uc001fjj.2_Missense_Mutation_p.G241R|GBA_uc001fjk.2_Missense_Mutation_p.G241R|GBA_uc001fjl.2_Missense_Mutation_p.G241R|GBA_uc010pfy.1_Missense_Mutation_p.G154R|GBA_uc009wqk.1_Missense_Mutation_p.G154R	p.G241R	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	871	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		241		G -> E (in GD).|G -> R (in GD; type 1 and type 2; gene conversion).			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.721G>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292486	0.40594	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	3.66	3.66	0.41972	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000002	D	0.97241	0.9098	M	0.62209	1.925	0.54753	D	0.999989	P;P;P	0.44006	0.493;0.824;0.766	B;B;B	0.43478	0.421;0.246;0.319	D	0.97404	0.9998	10	0.56958	D	0.05	.	11.0691	0.47993	0.0:1.0:0.0:0.0	.	192;128;241	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	R	192;154;241;241;128;198;226	ENSP00000402577:G192R;ENSP00000397986:G154R;ENSP00000357357:G241R;ENSP00000314508:G241R;ENSP00000445560:G128R	ENSP00000314508:G241R	G	-	1	0	GBA	153474589	1.000000	0.71417	0.716000	0.30569	0.589000	0.36550	5.273000	0.65564	2.048000	0.60808	0.298000	0.19748	GGA		0.567	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		8	86	0	0	0	0.004482	0	8	86				
SPTA1	6708	broad.mit.edu	37	1	158587342	158587342	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:158587342C>A	ENST00000368147.4	-	47	6765	c.6585G>T	c.(6583-6585)caG>caT	p.Q2195H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2195					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q2195H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTTCCAGCTGAGATTCCA	0.343																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6583-6585)CAG>CAT		spectrin, alpha, erythrocytic 1							120.0	110.0	113.0					1																	158587342		1848	4088	5936	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.chr1:158587342C>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.6585G>T	1.37:g.158587342C>A	ENSP00000357129:p.Gln2195His						p.Q2195H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			47	6784	-	all_hematologic(112;0.0378)		2195			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6585G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476855	0.63849	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.15	-0.813	0.10850	.	0.287844	0.18841	N	0.129679	T	0.54351	0.1853	M	0.84082	2.675	0.41817	D	0.990002	D	0.71674	0.998	D	0.76071	0.987	T	0.59327	-0.7475	10	0.62326	D	0.03	.	8.4712	0.32986	0.0:0.426:0.0:0.574	.	2195	P02549	SPTA1_HUMAN	H	2195;2192	ENSP00000357130:Q2195H;ENSP00000357129:Q2192H	ENSP00000357129:Q2192H	Q	-	3	2	SPTA1	156853966	0.998000	0.40836	0.933000	0.37362	0.973000	0.67179	0.945000	0.29056	-0.182000	0.10602	0.655000	0.94253	CAG		0.343	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	48	1	0	0.000157383	0.00308	0.000169974	6	48				
CRP	1401	broad.mit.edu	37	1	159683874	159683874	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:159683874G>A	ENST00000255030.5	-	2	219	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.S39F|CRP_ENST00000368110.1_Missense_Mutation_p.S39F|CRP_ENST00000368112.1_Missense_Mutation_p.S39F|CRP_ENST00000343919.2_Missense_Mutation_p.S39F|CRP_ENST00000473196.1_5'Flank	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	39	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.S39F(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TGCTTTGAGGGATACATAGGA	0.473																																							uc001ftw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)TCC>TTC		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						104.0	107.0	106.0					1																	159683874		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683874G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.116C>T	1.37:g.159683874G>A	ENSP00000255030:p.Ser39Phe					CRP_uc001ftx.1_Missense_Mutation_p.S39F|CRP_uc001fty.1_5'Flank	p.S39F	NM_000567	NP_000558	P02741	CRP_HUMAN			2	220	-	all_hematologic(112;0.0429)		39			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.116C>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108854	0.37242	.	.	ENSG00000132693	ENST00000255030;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.13	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.134170	0.06422	N	0.722577	T	0.14013	0.0339	M	0.80616	2.505	0.09310	N	1	P;P	0.47106	0.731;0.89	B;D	0.65573	0.256;0.936	T	0.19128	-1.0315	10	0.51188	T	0.08	-2.8872	4.8228	0.13400	0.1768:0.0:0.6512:0.172	.	39;39	P02741-2;P02741	.;CRP_HUMAN	F	39	ENSP00000255030:S39F;ENSP00000357093:S39F;ENSP00000357092:S39F;ENSP00000357091:S39F;ENSP00000340882:S39F	ENSP00000255030:S39F	S	-	2	0	CRP	157950498	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.104000	0.15313	0.540000	0.28808	0.655000	0.94253	TCC		0.473	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		8	174	0	0	0	0.006214	0	8	174				
SH2D1B	117157	broad.mit.edu	37	1	162381712	162381712	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:162381712T>C	ENST00000367929.2	-	1	204	c.95A>G	c.(94-96)gAc>gGc	p.D32G	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.D32G	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	32	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)	p.D32G(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGACTCGCTGTCTCTTAAAAG	0.507																																							uc001gbz.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(94-96)GAC>GGC		SH2 domain containing 1B							158.0	133.0	142.0					1																	162381712		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381712T>C	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.95A>G	1.37:g.162381712T>C	ENSP00000356906:p.Asp32Gly					SH2D1B_uc001gca.1_Missense_Mutation_p.D32G	p.D32G	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	217	-	all_hematologic(112;0.115)		32			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.95A>G	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455220	0.84209	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.89196	-2.48;-2.48	5.36	5.36	0.76844	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.89287	3.02	0.32907	D	0.513935	D;P	0.89917	1.0;0.948	D;P	0.87578	0.998;0.858	D	0.95137	0.8260	9	0.72032	D	0.01	-43.4998	11.6712	0.51401	0.0:0.0:0.0:1.0	.	32;32	O14796-2;O14796	.;SH21B_HUMAN	G	32	ENSP00000356906:D32G;ENSP00000352571:D32G	ENSP00000352571:D32G	D	-	2	0	SH2D1B	160648336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.484000	0.53201	2.231000	0.72958	0.533000	0.62120	GAC		0.507	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		10	69	0	0	0	0.006214	0	10	69				
PRRC2C	23215	broad.mit.edu	37	1	171511180	171511180	+	Silent	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:171511180A>G	ENST00000338920.4	+	16	4806	c.4569A>G	c.(4567-4569)acA>acG	p.T1523T	PRRC2C_ENST00000367742.3_Silent_p.T1525T|PRRC2C_ENST00000426496.2_Silent_p.T1523T|PRRC2C_ENST00000392078.3_Silent_p.T1525T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1523					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T1525T(2)									ATGCACAAACAGTTGTAAAGG	0.413																																							uc010pmg.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(4567-4569)ACA>ACG		HBxAg transactivated protein 2							59.0	62.0	61.0					1																	171511180		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171511180A>G	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.4569A>G	1.37:g.171511180A>G						BAT2L2_uc010pmh.1_Silent_p.T500T	p.T1523T	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	4835	+			1523					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.4569A>G	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	0.622	-0.820762	0.02755	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.76	-8.68	0.00859	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.27655	N	0.947256	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	1.2466	0.01974	0.239:0.2692:0.1142:0.3776	.	.	.	.	R	71	.	.	Q	+	2	0	PRRC2C	169777804	0.000000	0.05858	0.002000	0.10522	0.631000	0.37964	-1.099000	0.03343	-1.350000	0.02199	0.529000	0.55759	CAG		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		8	78	0	0	0	0.006214	0	8	78				
LAMC2	3918	broad.mit.edu	37	1	183208591	183208591	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:183208591G>C	ENST00000264144.4	+	20	3027	c.2962G>C	c.(2962-2964)Gac>Cac	p.D988H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	988	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.D988H(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCCAGTGACAAGACCCA	0.537																																							uc001gqa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2962-2964)GAC>CAC		laminin, gamma 2 isoform a precursor							93.0	108.0	103.0					1																	183208591		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208591G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2962G>C	1.37:g.183208591G>C	ENSP00000264144:p.Asp988His					LAMC2_uc001gpz.3_Missense_Mutation_p.D988H|LAMC2_uc010poa.1_Missense_Mutation_p.D688H	p.D988H	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			20	3276	+			988			Potential.|Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2962G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667358	0.67814	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.77750	2.41;-1.12	5.36	4.39	0.52855	.	0.388763	0.26387	N	0.024664	D	0.83695	0.5310	M	0.71581	2.175	0.43868	D	0.996476	D;D;D	0.63046	0.987;0.987;0.992	P;P;P	0.62813	0.809;0.809;0.907	D	0.83708	0.0186	10	0.52906	T	0.07	.	9.093	0.36623	0.0769:0.1486:0.7745:0.0	.	988;988;988	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	988	ENSP00000432063:D988H;ENSP00000264144:D988H	ENSP00000264144:D988H	D	+	1	0	LAMC2	181475214	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.031000	0.49728	2.509000	0.84616	0.491000	0.48974	GAC		0.537	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		33	264	0	0	0	0.012213	0	33	264				
KIF21B	23046	broad.mit.edu	37	1	200972738	200972738	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:200972738C>T	ENST00000422435.2	-	8	1504	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	KIF21B_ENST00000360529.5_Silent_p.Q396Q|KIF21B_ENST00000461742.2_Silent_p.Q396Q|KIF21B_ENST00000332129.2_Silent_p.Q396Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	396					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)	p.Q396Q(1)		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						TCAGCTCCATCTGCAGCCGAG	0.577																																							uc001gvs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(1186-1188)CAG>CAA		kinesin family member 21B							144.0	112.0	123.0					1																	200972738		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972738C>T	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.1188G>A	1.37:g.200972738C>T						KIF21B_uc001gvr.1_Silent_p.Q396Q|KIF21B_uc009wzl.1_Silent_p.Q396Q|KIF21B_uc010ppn.1_Silent_p.Q396Q|KIF21B_uc001gvt.1_Silent_p.Q254Q	p.Q396Q	NM_017596	NP_060066	O75037	KI21B_HUMAN			8	1505	-			396			Potential.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1188G>A	CCDS58056.1																																																																																				0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		15	100	0	0	0	0.003163	0	15	100				
PTPN14	5784	broad.mit.edu	37	1	214568247	214568247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:214568247G>A	ENST00000366956.5	-	9	1035	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	281	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.H281Y(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTACCGTGTGAAAGAGGGCA	0.448																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(841-843)CAC>TAC		protein tyrosine phosphatase, non-receptor type							300.0	252.0	268.0					1																	214568247		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214568247G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.841C>T	1.37:g.214568247G>A	ENSP00000355923:p.His281Tyr					PTPN14_uc010pty.1_Missense_Mutation_p.H182Y	p.H281Y	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	9	1112	-			281			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.841C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750215	0.49257	.	.	ENSG00000152104	ENST00000366956	D	0.85411	-1.98	5.65	5.65	0.86999	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.103521	0.64402	D	0.000003	D	0.85212	0.5645	N	0.25647	0.755	0.80722	D	1	D	0.59767	0.986	P	0.58577	0.841	D	0.85269	0.1055	10	0.45353	T	0.12	.	14.5514	0.68070	0.0:0.0:0.8538:0.1462	.	281	Q15678	PTN14_HUMAN	Y	281	ENSP00000355923:H281Y	ENSP00000355923:H281Y	H	-	1	0	PTPN14	212634870	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	5.872000	0.69636	2.659000	0.90383	0.655000	0.94253	CAC		0.448	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		8	190	0	0	0	0.00308	0	8	190				
PTPN14	5784	broad.mit.edu	37	1	214568286	214568286	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:214568286G>A	ENST00000366956.5	-	9	996	c.802C>T	c.(802-804)Cta>Tta	p.L268L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.L268L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCCACTAGAATGGTCGAC	0.428																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(802-804)CTA>TTA		protein tyrosine phosphatase, non-receptor type							359.0	303.0	322.0					1																	214568286		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214568286G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.802C>T	1.37:g.214568286G>A						PTPN14_uc010pty.1_Silent_p.L169L	p.L268L	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	9	1073	-			268			FERM.		Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.802C>T	CCDS1514.1																																																																																				0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		12	234	0	0	0	0.001855	0	12	234				
WDR64	128025	broad.mit.edu	37	1	241958535	241958535	+	Silent	SNP	C	C	T	rs150522021		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:241958535C>T	ENST00000366552.2	+	25	3201	c.2994C>T	c.(2992-2994)ttC>ttT	p.F998F	WDR64_ENST00000437684.2_Silent_p.F831F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	998								p.F551F(1)|p.F998F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGAAGGTTTCGTGACTGAAA	0.438																																							uc001hzf.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1651-1653)TTC>TTT		WD repeat domain 64		T		0,4406		0,0,2203	176.0	170.0	172.0		2994	1.5	0.5	1	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR64	NM_144625.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		998/1082	241958535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241958535C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2994C>T	1.37:g.241958535C>T						WDR64_uc001hzg.1_Silent_p.F464F	p.F551F	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		15	1806	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	998					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1653C>T		.	.	.	.	.	.	.	.	.	.	c	8.183	0.794311	0.16327	0.0	1.16E-4	ENSG00000162843	ENST00000425826	.	.	.	5.62	1.54	0.23209	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	T	0.24083	-1.0170	4	.	.	.	-10.8219	8.468	0.32969	0.1134:0.704:0.0:0.1826	.	.	.	.	L	477	.	.	S	+	2	0	WDR64	240025158	0.051000	0.20477	0.497000	0.27552	0.240000	0.25518	0.491000	0.22419	0.070000	0.16634	-2.867000	0.00100	TCG		0.438	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	160	0	0	0	0.001984	0	4	160				
NCOA4	8031	broad.mit.edu	37	10	51585290	51585290	+	Silent	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:51585290T>C	ENST00000443446.1	+	8	1618	c.1389T>C	c.(1387-1389)ccT>ccC	p.P463P	NCOA4_ENST00000344348.6_Silent_p.P463P|NCOA4_ENST00000438493.1_Silent_p.P479P|NCOA4_ENST00000430396.2_Silent_p.P363P|NCOA4_ENST00000374082.1_Silent_p.P463P|NCOA4_ENST00000452682.1_Silent_p.P479P|NCOA4_ENST00000374087.4_Silent_p.P463P|NCOA4_ENST00000414907.2_Silent_p.P297P	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	463					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.P479P(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGCTCTGTCCTAGAAAAGAAG	0.428			T	RET	papillary thyroid																																		uc001jis.3		NA		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(1387-1389)CCT>CCC		nuclear receptor coactivator 4 isoform 3							124.0	138.0	133.0					10																	51585290		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585290T>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1389T>C	10.37:g.51585290T>C						PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.P479P|NCOA4_uc010qhd.1_Silent_p.P479P|NCOA4_uc010qhe.1_Silent_p.P363P|NCOA4_uc010qhf.1_Silent_p.P297P|NCOA4_uc001jit.2_Silent_p.P463P|NCOA4_uc009xoo.2_Silent_p.P463P	p.P463P	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	1592	+			463					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.1389T>C	CCDS7237.1																																																																																				0.428	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		3	260	0	0	0	0.004672	0	3	260				
CFAP70	118491	broad.mit.edu	37	10	75082846	75082846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:75082846C>A	ENST00000310715.3	-	10	1117	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Nonsense_Mutation_p.E333*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.E333*|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		333						extracellular vesicular exosome (GO:0070062)		p.E333*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGCTGAGCTTCTTCATCAGTC	0.403																																							uc009xrc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(997-999)GAA>TAA		tetratricopeptide repeat domain 18							113.0	104.0	107.0					10																	75082846		2203	4300	6503	SO:0001587	stop_gained	118491						binding	g.chr10:75082846C>A																												ENST00000310715.3:c.997G>T	10.37:g.75082846C>A	ENSP00000310829:p.Glu333*					TTC18_uc001jty.2_Nonsense_Mutation_p.E333*|TTC18_uc009xrd.1_Nonsense_Mutation_p.E141*	p.E333*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			10	1118	-	Prostate(51;0.0119)		333					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	37	c.997G>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	36	5.843627	0.97016	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	.	.	.	5.81	5.81	0.92471	.	0.179319	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.5292	17.5723	0.87937	0.0:1.0:0.0:0.0	.	.	.	.	X	333	.	ENSP00000310829:E333X	E	-	1	0	TTC18	74752852	1.000000	0.71417	0.990000	0.47175	0.884000	0.51177	5.268000	0.65536	2.736000	0.93811	0.655000	0.94253	GAA		0.403	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	125	1	0	0.00909568	0.009096	0.00972607	4	125				
CYP26C1	340665	broad.mit.edu	37	10	94828109	94828109	+	Missense_Mutation	SNP	G	G	A	rs368990170		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:94828109G>A	ENST00000285949.5	+	6	1224	c.1224G>A	c.(1222-1224)atG>atA	p.M408I		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	408					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|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)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.M408I(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGAGCGTGATGTATAGCATCC	0.662																																							uc010qns.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1222-1224)ATG>ATA		cytochrome P450, family 26, subfamily C,							39.0	42.0	41.0					10																	94828109		2092	4074	6166	SO:0001583	missense	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94828109G>A		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1224G>A	10.37:g.94828109G>A	ENSP00000285949:p.Met408Ile					CYP26C1_uc009xud.2_RNA	p.M408I	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			6	1224	+		Colorectal(252;0.122)	408					Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	c.1224G>A	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972952	0.34848	.	.	ENSG00000187553	ENST00000285949	T	0.64618	-0.11	5.17	5.17	0.71159	.	0.036376	0.85682	N	0.000000	T	0.47154	0.1430	N	0.10760	0.04	0.41896	D	0.99039	B	0.20052	0.041	B	0.29267	0.1	T	0.39683	-0.9602	10	0.27082	T	0.32	-24.5439	18.7206	0.91691	0.0:0.0:1.0:0.0	.	408	Q6V0L0	CP26C_HUMAN	I	408	ENSP00000285949:M408I	ENSP00000285949:M408I	M	+	3	0	CYP26C1	94818099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.733000	0.84916	2.403000	0.81681	0.555000	0.69702	ATG		0.662	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		12	108	0	0	0	0.010729	0	12	108				
COL17A1	1308	broad.mit.edu	37	10	105796299	105796299	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:105796299C>T	ENST00000353479.5	-	48	3659	c.3369G>A	c.(3367-3369)ctG>ctA	p.L1123L	COL17A1_ENST00000369733.3_Silent_p.L1078L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1123	Triple-helical region.				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)		p.L1123L(1)		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)		AGTCCAAAGACAGGAGGGACC	0.597																																							uc001kxr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3367-3369)CTG>CTA		alpha 1 type XVII collagen							60.0	55.0	56.0					10																	105796299		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105796299C>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.3369G>A	10.37:g.105796299C>T							p.L1123L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	48	3538	-		Colorectal(252;0.103)|Breast(234;0.122)	1123			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.3369G>A	CCDS7554.1																																																																																				0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		12	42	0	0	0	0.001855	0	12	42				
CFAP43	80217	broad.mit.edu	37	10	105926410	105926410	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:105926410C>T	ENST00000357060.3	-	23	2990	c.2875G>A	c.(2875-2877)Gat>Aat	p.D959N	WDR96_ENST00000428666.1_Missense_Mutation_p.D960N	NM_025145.5	NP_079421.5												p.D959N(1)		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						TCTTCTTCATCATCCTCTTCA	0.398																																							uc001kxw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2875-2877)GAT>AAT		hypothetical protein LOC80217							164.0	162.0	163.0					10																	105926410		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105926410C>T																												ENST00000357060.3:c.2875G>A	10.37:g.105926410C>T	ENSP00000349568:p.Asp959Asn					C10orf79_uc009xxq.2_Missense_Mutation_p.D267N	p.D959N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	23	2991	-		Colorectal(252;0.178)	959						Missense_Mutation	SNP	ENST00000357060.3	37	c.2875G>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.29|16.29	3.080504|3.080504	0.55753|0.55753	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.16324|.	2.35;2.35|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.889887|.	0.09769|.	N|.	0.758296|.	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.37630|0.37630	1.12|1.12	0.37986|0.37986	D|D	0.93375|0.93375	B;B|.	0.29805|.	0.257;0.1|.	B;B|.	0.29077|.	0.098;0.022|.	T|T	0.57917|0.57917	-0.7728|-0.7728	10|5	0.27082|.	T|.	0.32|.	.|.	19.3311|19.3311	0.94288|0.94288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	960;959|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	N|I	959;960|319	ENSP00000349568:D959N;ENSP00000400289:D960N|.	ENSP00000349568:D959N|.	D|M	-|-	1|3	0|0	WDR96|WDR96	105916400|105916400	0.964000|0.964000	0.33143|0.33143	0.996000|0.996000	0.52242|0.52242	0.407000|0.407000	0.30961|0.30961	2.230000|2.230000	0.42999|0.42999	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAT|ATG		0.398	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	229	0	0	0	0.008291	0	10	229				
SHOC2	8036	broad.mit.edu	37	10	112724821	112724821	+	Splice_Site	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:112724821T>A	ENST00000369452.4	+	2	1048		c.e2+2		SHOC2_ENST00000265277.5_Splice_Site|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTGAAATTGGTAAGAGGCCTT	0.328																																							uc001kzl.3		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e2+2		soc-2 suppressor of clear homolog							48.0	49.0	48.0					10																	112724821		2202	4299	6501	SO:0001630	splice_region_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724821T>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.703+2T>A	10.37:g.112724821T>A						SHOC2_uc009xxx.2_Splice_Site_p.G235_splice|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Splice_Site_p.G235_splice	p.G235_splice	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	1052	+								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Splice_Site	SNP	ENST00000369452.4	37	c.703_splice	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674439	0.47781	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9199	0.79556	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHOC2	112714811	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.139000	0.71728	2.161000	0.67846	0.533000	0.62120	.		0.328	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	Intron	20	28	0	0	0	0.008871	0	20	28				
SHOC2	8036	broad.mit.edu	37	10	112764399	112764399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:112764399G>C	ENST00000369452.4	+	5	1353	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	SHOC2_ENST00000265277.5_Missense_Mutation_p.L290F|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	336					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.L336F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TGAATAGTTTGACCTTAGCTA	0.338																																							uc001kzl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1006-1008)TTG>TTC		soc-2 suppressor of clear homolog							102.0	98.0	99.0					10																	112764399		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112764399G>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1008G>C	10.37:g.112764399G>C	ENSP00000358464:p.Leu336Phe					SHOC2_uc009xxx.2_Missense_Mutation_p.L336F|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Missense_Mutation_p.L290F	p.L336F	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	5	1357	+			336			LRR 11.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.1008G>C	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610368	0.46527	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	D;D;D	0.81499	-1.5;-1.5;-1.5	5.51	5.51	0.81932	.	0.070769	0.64402	D	0.000015	D	0.84370	0.5457	M	0.77820	2.39	0.58432	D	0.999999	P;P	0.40619	0.514;0.724	B;P	0.51170	0.124;0.661	D	0.84339	0.0526	10	0.48119	T	0.1	.	7.2031	0.25891	0.2068:0.0:0.7932:0.0	.	290;336	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	F	290;336;126	ENSP00000265277:L290F;ENSP00000358464:L336F;ENSP00000408275:L126F	ENSP00000265277:L290F	L	+	3	2	SHOC2	112754389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.275000	0.51639	2.589000	0.87451	0.555000	0.69702	TTG		0.338	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		4	70	0	0	0	0.009096	0	4	70				
GLRX3	10539	broad.mit.edu	37	10	131973145	131973145	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:131973145C>T	ENST00000368644.1	+	9	861	c.839C>T	c.(838-840)aCa>aTa	p.T280I	GLRX3_ENST00000331244.5_Missense_Mutation_p.T280I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	280	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.T280I(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GAATATGAAACATTCGATATA	0.323																																							uc001lkm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(838-840)ACA>ATA		glutaredoxin 3							201.0	191.0	194.0					10																	131973145		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131973145C>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.839C>T	10.37:g.131973145C>T	ENSP00000357633:p.Thr280Ile					GLRX3_uc001lkn.1_Missense_Mutation_p.T280I|GLRX3_uc001lko.2_RNA	p.T280I	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	9	861	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	280			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.839C>T	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410135	0.62399	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.28666	1.6;1.6	4.07	4.07	0.47477	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.90595	3.13	0.80722	D	1	D	0.58268	0.982	D	0.64506	0.926	T	0.62996	-0.6735	10	0.22109	T	0.4	-20.6457	15.0006	0.71469	0.0:1.0:0.0:0.0	.	280	O76003	GLRX3_HUMAN	I	280	ENSP00000330836:T280I;ENSP00000357633:T280I	ENSP00000330836:T280I	T	+	2	0	GLRX3	131863135	1.000000	0.71417	0.988000	0.46212	0.731000	0.41821	5.715000	0.68430	2.113000	0.64589	0.561000	0.74099	ACA		0.323	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		16	139	0	0	0	0.004007	0	16	139				
MTG1	92170	broad.mit.edu	37	10	135233655	135233655	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:135233655G>C	ENST00000317502.6	+	11	1041	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	MTG1_ENST00000477902.2_Missense_Mutation_p.E290Q|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E336Q	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	331					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E331Q(1)		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)		CCCCCCGGCTGAGACTTTGCC	0.662																																							uc001lnd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(991-993)GAG>CAG		GTP_binding protein precursor							53.0	54.0	53.0					10																	135233655		2203	4300	6503	SO:0001583	missense	92170					mitochondrion	GTP binding|protein binding	g.chr10:135233655G>C		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	ENST00000317502.6:c.991G>C	10.37:g.135233655G>C	ENSP00000323047:p.Glu331Gln					MTG1_uc010qve.1_Missense_Mutation_p.E196Q	p.E331Q	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	11	1095	+		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)	331					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.991G>C	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346353	0.41599	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.47177	1.38;1.46;0.85	4.25	0.331	0.15933	.	2.744600	0.01397	N	0.013462	T	0.36110	0.0955	N	0.22421	0.69	0.09310	N	1	B;B	0.26195	0.144;0.089	B;B	0.26969	0.06;0.075	T	0.33828	-0.9853	10	0.62326	D	0.03	.	6.1357	0.20230	0.4421:0.0:0.5579:0.0	.	280;331	E7EVK2;Q9BT17	.;MTG1_HUMAN	Q	336;331;280	ENSP00000436767:E336Q;ENSP00000323047:E331Q;ENSP00000393480:E280Q	ENSP00000323047:E331Q	E	+	1	0	AL360181.1;MTG1	135083645	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.383000	0.20651	0.185000	0.20105	-0.496000	0.04628	GAG		0.662	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		9	86	0	0	0	0.004482	0	9	86				
OR51D1	390038	broad.mit.edu	37	11	4661548	4661548	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:4661548C>G	ENST00000357605.2	+	1	604	c.528C>G	c.(526-528)ctC>ctG	p.L176L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L176L(1)		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)		CCTTCATCCTCAAGTGGTTGT	0.507																																							uc010qyk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)CTC>CTG		olfactory receptor, family 51, subfamily D,							261.0	224.0	237.0					11																	4661548		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661548C>G	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.528C>G	11.37:g.4661548C>G							p.L176L	NM_001004751	NP_001004751	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	528	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	176			Extracellular (Potential).		B9EIK4	Silent	SNP	ENST00000357605.2	37	c.528C>G	CCDS31357.1																																																																																				0.507	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		19	282	0	0	0	0.00278	0	19	282				
RRP8	23378	broad.mit.edu	37	11	6623441	6623441	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:6623441G>C	ENST00000254605.6	-	2	221	c.104C>G	c.(103-105)tCc>tGc	p.S35C	ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	35					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S35C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCGGCGCTTGGAGCCCTGGAG	0.562																																							uc001med.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TCC>TGC		ribosomal RNA processing 8, methyltransferase,							43.0	50.0	47.0					11																	6623441		2199	4293	6492	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6623441G>C	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.104C>G	11.37:g.6623441G>C	ENSP00000254605:p.Ser35Cys					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.S35C	NM_015324	NP_056139	O43159	RRP8_HUMAN			2	183	-			35					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.104C>G	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819321	0.32145	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.47528	1.46;0.84	5.03	3.04	0.35103	.	0.518457	0.19474	N	0.113375	T	0.37293	0.0998	L	0.29908	0.895	0.09310	N	0.999996	D	0.55172	0.97	P	0.47206	0.541	T	0.17715	-1.0360	10	0.62326	D	0.03	-5.0902	6.1687	0.20404	0.1024:0.2783:0.6193:0.0	.	35	O43159	RRP8_HUMAN	C	35	ENSP00000254605:S35C;ENSP00000436246:S35C	ENSP00000254605:S35C	S	-	2	0	RRP8	6580017	0.008000	0.16893	0.771000	0.31576	0.047000	0.14425	1.227000	0.32576	1.348000	0.45733	0.655000	0.94253	TCC		0.562	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		7	156	0	0	0	0.00308	0	7	156				
OR10A5	144124	broad.mit.edu	37	11	6867517	6867517	+	Missense_Mutation	SNP	G	G	C	rs199844475		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:6867517G>C	ENST00000299454.4	+	1	635	c.604G>C	c.(604-606)Gtc>Ctc	p.V202L	OR10A5_ENST00000379831.2_Missense_Mutation_p.V206L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	202					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)	p.V202L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512																																					Pancreas(44;21 1072 25662 28041 45559)	Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(604-606)GTC>CTC		olfactory receptor, family 10, subfamily A,							294.0	235.0	255.0					11																	6867517		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867517G>C	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.604G>C	11.37:g.6867517G>C	ENSP00000299454:p.Val202Leu						p.V202L	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	604	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	202			Helical; Name=5; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.604G>C	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	0.213	-1.034826	0.02029	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00193	8.58;8.58	3.59	-3.44	0.04796	GPCR, rhodopsin-like superfamily (1);	0.239799	0.29218	N	0.012790	T	0.00144	0.0004	L	0.38692	1.165	0.09310	N	1	B	0.25235	0.121	B	0.32211	0.142	T	0.34054	-0.9844	10	0.27082	T	0.32	.	11.6873	0.51494	0.4858:0.0:0.5142:0.0	.	202	Q9H207	O10A5_HUMAN	L	202;206	ENSP00000299454:V202L;ENSP00000369159:V206L	ENSP00000299454:V202L	V	+	1	0	OR10A5	6824093	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.130000	0.01312	-1.185000	0.02716	-3.121000	0.00061	GTC		0.512	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		4	252	0	0	0	0.009096	0	4	252				
ASCL3	56676	broad.mit.edu	37	11	8959371	8959371	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:8959371T>G	ENST00000531618.1	-	1	387	c.338A>C	c.(337-339)tAc>tCc	p.Y113S	ASCL3_ENST00000325884.1_Missense_Mutation_p.Y113S			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	112	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.Y113S(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GAGCTGGGCGTAGCCTTCATT	0.527																																							uc001mhd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(337-339)TAT>TCT		ASCL3							82.0	83.0	83.0					11																	8959371		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959371T>G	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.338A>C	11.37:g.8959371T>G	ENSP00000435770:p.Tyr113Ser						p.Y113S	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	398	-			112			Helix-loop-helix motif.		Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.338A>C	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918780	0.92249	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.88975	-2.45;-2.45	5.72	5.72	0.89469	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.91612	3.225	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.96516	0.9382	10	0.87932	D	0	-17.1653	16.0063	0.80363	0.0:0.0:0.0:1.0	.	112	Q9NQ33	ASCL3_HUMAN	S	113	ENSP00000318846:Y113S;ENSP00000435770:Y113S	ENSP00000318846:Y113S	Y	-	2	0	ASCL3	8915947	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.036000	0.88901	2.194000	0.70268	0.528000	0.53228	TAC		0.527	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			4	130	0	0	0	0.001984	0	4	130				
TPH1	7166	broad.mit.edu	37	11	18048086	18048086	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:18048086A>G	ENST00000250018.2	-	6	1316	c.754T>C	c.(754-756)Tgc>Cgc	p.C252R	TPH1_ENST00000341556.2_Missense_Mutation_p.C252R	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	252					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.C252R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TATTGAGTGCAGTGAAAAACT	0.408																																							uc001mnp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(754-756)TGC>CGC		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						97.0	97.0	97.0					11																	18048086		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18048086A>G	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.754T>C	11.37:g.18048086A>G	ENSP00000250018:p.Cys252Arg					TPH1_uc009yhe.2_RNA	p.C252R	NM_004179	NP_004170	P17752	TPH1_HUMAN			6	780	-			252					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.754T>C	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600957	0.87055	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99598	-6.26;-6.26	5.4	5.4	0.78164	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97148	0.9829	10	0.87932	D	0	-11.5556	15.719	0.77694	1.0:0.0:0.0:0.0	.	252	P17752	TPH1_HUMAN	R	252	ENSP00000250018:C252R;ENSP00000343550:C252R	ENSP00000250018:C252R	C	-	1	0	TPH1	18004662	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.244000	0.95423	2.175000	0.68902	0.383000	0.25322	TGC		0.408	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		8	103	0	0	0	0.004482	0	8	103				
FIBIN	387758	broad.mit.edu	37	11	27016133	27016133	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:27016133C>T	ENST00000318627.2	+	1	506	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	20						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.F20F(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAGGCTACTTCGATGGCCCCC	0.542																																							uc001mrd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)TTC>TTT		fin bud initiation factor homolog precursor							88.0	88.0	88.0					11																	27016133		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016133C>T	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.60C>T	11.37:g.27016133C>T							p.F20F	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	506	+			20						Silent	SNP	ENST00000318627.2	37	c.60C>T	CCDS7861.1																																																																																				0.542	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		22	138	0	0	0	0.00333	0	22	138				
MYBPC3	4607	broad.mit.edu	37	11	47362583	47362583	+	Splice_Site	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:47362583T>C	ENST00000545968.1	-	20	1952	c.1898A>G	c.(1897-1899)gAg>gGg	p.E633G	MYBPC3_ENST00000399249.2_Splice_Site_p.E633G|MYBPC3_ENST00000256993.4_Splice_Site_p.E632G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	633	Ig-like C2-type 4.				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)	p.E633G(1)		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)		AATCTTGACCTCTGCAAGAGA	0.637																																							uc001nfa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1897-1899)GAG>GGG		myosin binding protein C, cardiac							33.0	37.0	36.0					11																	47362583		1901	4111	6012	SO:0001630	splice_region_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.chr11:47362583T>C	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.1898-1A>G	11.37:g.47362583T>C						MYBPC3_uc010rhl.1_RNA	p.E633G	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	19	1953	-			632			Ig-like C2-type 4.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1898A>G	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561415	0.65538	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.60920	0.15;0.16;0.22	4.77	4.77	0.60923	Immunoglobulin subtype (1);	.	.	.	.	T	0.48909	0.1526	L	0.31294	0.92	0.80722	D	1	B	0.27166	0.17	B	0.32289	0.143	T	0.49447	-0.8939	9	0.45353	T	0.12	.	14.4584	0.67433	0.0:0.0:0.0:1.0	.	632	Q14896	MYPC3_HUMAN	G	633;633;632	ENSP00000442795:E633G;ENSP00000382193:E633G;ENSP00000256993:E632G	ENSP00000256993:E632G	E	-	2	0	MYBPC3	47319159	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.368000	0.79567	2.013000	0.59113	0.383000	0.25322	GAG		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		Missense_Mutation	4	12	0	0	0	0.001168	0	4	12				
OR4X2	119764	broad.mit.edu	37	11	48266743	48266743	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:48266743A>C	ENST00000302329.3	+	1	136	c.88A>C	c.(88-90)Att>Ctt	p.I30L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I30L(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTACACAGCAATTGTGCTGGG	0.448																																							uc001ngs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(88-90)ATT>CTT		olfactory receptor, family 4, subfamily X,							209.0	177.0	188.0					11																	48266743		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266743A>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.88A>C	11.37:g.48266743A>C	ENSP00000307751:p.Ile30Leu						p.I30L	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	88	+			30			Helical; Name=1; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.88A>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040962	0.35989	.	.	ENSG00000172208	ENST00000302329	T	0.00569	6.52	5.37	1.78	0.24846	.	0.231325	0.29916	N	0.010863	T	0.00695	0.0023	M	0.73217	2.22	0.09310	N	1	B	0.30455	0.28	B	0.29077	0.098	T	0.43718	-0.9374	10	0.62326	D	0.03	.	8.0234	0.30423	0.7556:0.0:0.2444:0.0	.	30	Q8NGF9	OR4X2_HUMAN	L	30	ENSP00000307751:I30L	ENSP00000307751:I30L	I	+	1	0	OR4X2	48223319	0.001000	0.12720	0.003000	0.11579	0.941000	0.58515	1.637000	0.37155	0.046000	0.15833	0.528000	0.53228	ATT		0.448	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		4	276	0	0	0	0.009096	0	4	276				
PRG3	10394	broad.mit.edu	37	11	57144338	57144338	+	Missense_Mutation	SNP	G	G	T	rs141251058	byFrequency	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57144338G>T	ENST00000287143.2	-	6	772	c.663C>A	c.(661-663)ttC>ttA	p.F221L		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)	p.F221L(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						AGGAGCAGACGAAGGGCAGTT	0.602																																					Melanoma(154;1456 2519 19358 45229)	Melanoma(154;1456 2519 19358 45229)	uc001njv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(661-663)TTC>TTA		proteoglycan 3 precursor							162.0	157.0	159.0					11																	57144338		2201	4296	6497	SO:0001583	missense	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.chr11:57144338G>T	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.663C>A	11.37:g.57144338G>T	ENSP00000287143:p.Phe221Leu						p.F221L	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			6	773	-			221			C-type lectin.		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.663C>A	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529822	0.45073	.	.	ENSG00000156575	ENST00000287143	T	0.21191	2.02	4.55	0.589	0.17452	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000046	T	0.52025	0.1709	H	0.95884	3.735	0.31928	N	0.612519	D	0.89917	1.0	D	0.91635	0.999	T	0.59627	-0.7419	10	0.87932	D	0	-31.0138	6.4311	0.21796	0.4123:0.0:0.5877:0.0	.	221	Q9Y2Y8	PRG3_HUMAN	L	221	ENSP00000287143:F221L	ENSP00000287143:F221L	F	-	3	2	PRG3	56900914	0.216000	0.23585	0.629000	0.29254	0.141000	0.21300	0.255000	0.18333	0.275000	0.22094	0.555000	0.69702	TTC		0.602	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		18	281	1	0	1.2644e-06	0.010504	1.38635e-06	18	281				
PRG2	5553	broad.mit.edu	37	11	57156549	57156549	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57156549G>A	ENST00000311862.5	-	3	373	c.300C>T	c.(298-300)ggC>ggT	p.G100G	RP11-872D17.8_ENST00000529411.1_Silent_p.G205G|PRG2_ENST00000525955.1_Silent_p.G100G|PRG2_ENST00000533605.1_Silent_p.G100G	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	100					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.G100G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	ACCCAGGGATGCCCACCACTT	0.542																																							uc001njz.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)GGC>GGT		proteoglycan 2 preproprotein	Sargramostim(DB00020)						116.0	105.0	109.0					11																	57156549		2201	4296	6497	SO:0001819	synonymous_variant	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156549G>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.300C>T	11.37:g.57156549G>A						PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.G100G|PRG2_uc001nkb.2_Silent_p.G100G|PRG2_uc001nkd.2_Silent_p.G100G|PRG2_uc001nkc.2_Silent_p.G100G|PRG2_uc001nke.2_Silent_p.G380G	p.G100G	NM_002728	NP_002719	P13727	PRG2_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	327	-			100					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000311862.5	37	c.300C>T	CCDS7955.1																																																																																				0.542	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		14	143	0	0	0	0.001855	0	14	143				
OR9Q2	219957	broad.mit.edu	37	11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577																																							uc010rka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(742-744)GTC>ATC		olfactory receptor, family 9, subfamily Q,							129.0	110.0	117.0					11																	57958704		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958704G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.742G>A	11.37:g.57958704G>A	ENSP00000308714:p.Val248Ile						p.V248I	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	742	+		Breast(21;0.0589)	248			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.742G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586121	0.28268	.	.	ENSG00000186513	ENST00000311591	T	0.00340	8.04	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.170594	0.27715	N	0.018144	T	0.00815	0.0027	M	0.81614	2.55	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39881	-0.9592	10	0.56958	D	0.05	-21.5191	13.3599	0.60650	0.0759:0.0:0.9241:0.0	.	248	Q8NGE9	OR9Q2_HUMAN	I	248	ENSP00000308714:V248I	ENSP00000308714:V248I	V	+	1	0	OR9Q2	57715280	0.993000	0.37304	0.076000	0.20297	0.049000	0.14656	2.377000	0.44300	1.514000	0.48869	-0.126000	0.14955	GTC		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		5	138	0	0	0	0.006214	0	5	138				
SLC22A8	9376	broad.mit.edu	37	11	62760896	62760896	+	Splice_Site	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:62760896C>T	ENST00000336232.2	-	10	1664	c.1529G>A	c.(1528-1530)tGg>tAg	p.W510*	SLC22A8_ENST00000545207.1_Splice_Site_p.W419*|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Splice_Site_p.W387*|SLC22A8_ENST00000430500.2_Splice_Site_p.W510*|SLC22A8_ENST00000311438.8_Nonsense_Mutation_p.W510*	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	510					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)	p.W510*(1)		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)	AGTGACTGACCAGTTTTCCAG	0.617																																							uc001nwo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1528-1530)TGG>TAG		solute carrier family 22 member 8							75.0	72.0	73.0					11																	62760896		2201	4298	6499	SO:0001630	splice_region_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760896C>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.1529+1G>A	11.37:g.62760896C>T						SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Nonsense_Mutation_p.W510*|SLC22A8_uc009yom.2_Nonsense_Mutation_p.W387*|SLC22A8_uc010rmm.1_Nonsense_Mutation_p.W419*|SLC22A8_uc009yon.2_Nonsense_Mutation_p.W510*	p.W510*	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			10	1665	-			510			Extracellular (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Nonsense_Mutation	SNP	ENST00000336232.2	37	c.1529G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013602	0.97200	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.1834	0.86860	0.0:1.0:0.0:0.0	.	.	.	.	X	510;496;419;387;510;510	.	ENSP00000311463:W510X	W	-	2	0	SLC22A8	62517472	0.875000	0.30112	0.980000	0.43619	0.969000	0.65631	1.642000	0.37207	2.644000	0.89710	0.591000	0.81541	TGG		0.617	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	Nonsense_Mutation	10	123	0	0	0	0.006214	0	10	123				
FZD4	8322	broad.mit.edu	37	11	86662507	86662507	+	Missense_Mutation	SNP	C	C	G	rs80358296		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:86662507C>G	ENST00000531380.1	-	2	1596	c.1291G>C	c.(1291-1293)Gaa>Caa	p.E431Q	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	431					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)	p.E431Q(1)		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)				ATCAGTCTTTCTAACTTGTCT	0.413																																							uc001pce.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1291-1293)GAA>CAA		frizzled 4 precursor							170.0	153.0	158.0					11																	86662507		2201	4299	6500	SO:0001583	missense	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.chr11:86662507C>G	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.1291G>C	11.37:g.86662507C>G	ENSP00000434034:p.Glu431Gln					PRSS23_uc001pcc.1_RNA	p.E431Q	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	1597	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	431			Cytoplasmic (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1291G>C	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065204	0.76187	.	.	ENSG00000174804	ENST00000531380	D	0.83419	-1.72	5.77	5.77	0.91146	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93094	0.6502	9	.	.	.	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	431	Q9ULV1	FZD4_HUMAN	Q	431	ENSP00000434034:E431Q	.	E	-	1	0	FZD4	86340155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.757000	0.85209	2.744000	0.94065	0.561000	0.74099	GAA		0.413	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		3	299	0	0	0	0.004672	0	3	299				
TYR	7299	broad.mit.edu	37	11	88911903	88911903	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:88911903A>C	ENST00000263321.5	+	1	1284	c.782A>C	c.(781-783)aAc>aCc	p.N261T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	261					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N261T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ACAAATCCTAACTTACTCAGC	0.453																																							uc001pcs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(781-783)AAC>ACC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						112.0	94.0	100.0					11																	88911903		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911903A>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.782A>C	11.37:g.88911903A>C	ENSP00000263321:p.Asn261Thr						p.N261T	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	864	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	261			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.782A>C	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	1.802	-0.476721	0.04414	.	.	ENSG00000077498	ENST00000263321	D	0.98876	-5.2	6.07	3.74	0.42951	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.194213	0.64402	N	0.000005	D	0.98121	0.9380	L	0.52364	1.645	0.39699	D	0.971157	D	0.56746	0.977	P	0.62184	0.899	D	0.97021	0.9743	9	.	.	.	.	9.1275	0.36824	0.8107:0.1252:0.0641:0.0	.	261	P14679	TYRO_HUMAN	T	261	ENSP00000263321:N261T	.	N	+	2	0	TYR	88551551	0.944000	0.32072	0.016000	0.15963	0.080000	0.17528	2.299000	0.43611	0.518000	0.28383	-0.316000	0.08728	AAC		0.453	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		16	99	0	0	0	0.007413	0	16	99				
MAML2	84441	broad.mit.edu	37	11	95724744	95724744	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:95724744C>T	ENST00000524717.1	-	3	3567	c.2283G>A	c.(2281-2283)caG>caA	p.Q761Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	761					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)				TGATCTGCCTCTGTAGAGTCT	0.453			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																		uc001pfw.1		NA		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2281-2283)CAG>CAA		mastermind-like 2							159.0	155.0	156.0					11																	95724744		1946	4153	6099	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95724744C>T	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.2283G>A	11.37:g.95724744C>T							p.Q761Q	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			3	3568	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	761					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.2283G>A	CCDS44714.1																																																																																				0.453	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			5	195	0	0	0	0.001168	0	5	195				
ARHGEF12	23365	broad.mit.edu	37	11	120322385	120322385	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:120322385G>C	ENST00000397843.2	+	22	2174	c.2008G>C	c.(2008-2010)Gct>Cct	p.A670P	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A567P|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A651P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	670					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)	p.A670P(1)		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)		GTCTTCTGTAGCTTCAGGGGC	0.463			T	MLL	AML																																		uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(2008-2010)GCT>CCT		Rho guanine nucleotide exchange factor (GEF) 12							58.0	61.0	60.0					11																	120322385		1871	4122	5993	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.chr11:120322385G>C	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.2008G>C	11.37:g.120322385G>C	ENSP00000380942:p.Ala670Pro					ARHGEF12_uc009zat.2_Missense_Mutation_p.A651P|ARHGEF12_uc010rzn.1_Missense_Mutation_p.A567P|ARHGEF12_uc009zau.1_Missense_Mutation_p.A567P	p.A670P	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	22	2015	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	670					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.2008G>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031279	0.35797	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66460	-0.1;-0.21;-0.1	5.07	2.9	0.33743	.	0.658159	0.13252	N	0.402018	T	0.46073	0.1374	N	0.22421	0.69	0.09310	N	1	B;B;P	0.39131	0.133;0.001;0.661	B;B;B	0.31191	0.079;0.002;0.125	T	0.18967	-1.0320	10	0.30854	T	0.27	-1.7206	9.813	0.40835	0.2381:0.0:0.7619:0.0	.	567;651;670	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	P	670;651;567	ENSP00000380942:A670P;ENSP00000349056:A651P;ENSP00000432984:A567P	ENSP00000349056:A651P	A	+	1	0	ARHGEF12	119827595	0.079000	0.21365	0.019000	0.16419	0.902000	0.53008	0.862000	0.27899	1.103000	0.41568	0.491000	0.48974	GCT		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	42	0	0	0	0.001984	0	5	42				
Unknown	0	broad.mit.edu	37	12	92018	92018	+	IGR	SNP	T	T	C	rs376561453		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:92018T>C								AC215219.1 (18696 upstream) : AC026369.1 (55033 downstream)																							GACTCCACACTCTCCTGGGTT	0.592																																							uc010sdi.1		NA																	0					NA						c.(292-294)AGT>GGT		SubName: Full=DEAD/H box polypeptide 11 like 11;																																				SO:0001628	intergenic_variant	0							g.chr12:92018T>C																													12.37:g.92018T>C						uc010sdj.1_RNA	p.S98G							2	320	-									Missense_Mutation	SNP		37	c.292A>G																																																																																				0	0.592									2	7	0	0	0	0.004672	0	2	7				
PLEKHG6	55200	broad.mit.edu	37	12	6424195	6424195	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:6424195G>A	ENST00000396988.3	+	4	549	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E107K|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.E75K|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E107K	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E107K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCATGAGCTGGAGGTGAGGCT	0.657																																							uc001qnr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(319-321)GAG>AAG		pleckstrin homology domain-containing family G							100.0	86.0	91.0					12																	6424195		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424195G>A	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.319G>A	12.37:g.6424195G>A	ENSP00000380185:p.Glu107Lys					PLEKHG6_uc001qns.2_Missense_Mutation_p.E107K|PLEKHG6_uc010sew.1_Missense_Mutation_p.E107K|PLEKHG6_uc010sex.1_Missense_Mutation_p.E75K	p.E107K	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			4	467	+			107					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.319G>A	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206520	0.39003	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.66280	-0.09;0.02;-0.09;-0.2	5.0	2.16	0.27623	.	0.259745	0.27289	N	0.020057	T	0.57066	0.2028	M	0.75264	2.295	0.80722	D	1	B;B;B	0.14012	0.009;0.009;0.001	B;B;B	0.15052	0.012;0.012;0.005	T	0.53627	-0.8412	10	0.59425	D	0.04	-12.9174	6.0863	0.19968	0.1359:0.1649:0.6992:0.0	.	75;107;107	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	K	107;107;107;75	ENSP00000011684:E107K;ENSP00000442836:E107K;ENSP00000380185:E107K;ENSP00000393194:E75K	ENSP00000011684:E107K	E	+	1	0	PLEKHG6	6294456	1.000000	0.71417	0.519000	0.27824	0.674000	0.39518	1.873000	0.39558	0.291000	0.22468	0.591000	0.81541	GAG		0.657	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		12	167	0	0	0	0.004007	0	12	167				
A2M	2	broad.mit.edu	37	12	9232408	9232408	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:9232408T>C	ENST00000318602.7	-	24	3165	c.2858A>G	c.(2857-2859)gAc>gGc	p.D953G	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	953					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.D953G(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)	GCCTAATATGTCTCCTAGAGA	0.393																																							uc001qvk.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(2857-2859)GAC>GGC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						85.0	80.0	81.0					12																	9232408		1989	4198	6187	SO:0001583	missense	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.chr12:9232408T>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.2858A>G	12.37:g.9232408T>C	ENSP00000323929:p.Asp953Gly					A2M_uc001qvj.1_5'UTR|A2M_uc009zgk.1_Missense_Mutation_p.D803G	p.D953G	NM_000014	NP_000005	P01023	A2MG_HUMAN			24	2971	-			953					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2858A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629834	0.87660	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.21734	1.99	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	T	0.62048	0.2396	H	0.97291	3.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77117	-0.2706	10	0.87932	D	0	.	14.809	0.69979	0.0:0.0:0.0:1.0	.	953	P01023	A2MG_HUMAN	G	953;968	ENSP00000323929:D953G	ENSP00000323929:D953G	D	-	2	0	A2M	9123675	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.799000	0.85936	2.042000	0.60477	0.383000	0.25322	GAC		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		5	29	0	0	0	0.001168	0	5	29				
OR6C4	341418	broad.mit.edu	37	12	55945365	55945365	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:55945365G>C	ENST00000394256.2	+	1	383	c.355G>C	c.(355-357)Gat>Cat	p.D119H	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D119H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATGTCTTATGATCGTTATGT	0.443																																							uc010spp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GAT>CAT		olfactory receptor, family 6, subfamily C,							103.0	105.0	104.0					12																	55945365		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945365G>C	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.355G>C	12.37:g.55945365G>C	ENSP00000377799:p.Asp119His						p.D119H	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	355	+			119			Cytoplasmic (Potential).		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.355G>C	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506403	0.85282	.	.	ENSG00000179626	ENST00000394256	T	0.55234	0.53	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.81997	0.4941	H	0.96365	3.81	0.48571	D	0.999671	D	0.89917	1.0	D	0.97110	1.0	D	0.87513	0.2441	10	0.87932	D	0	.	18.5989	0.91240	0.0:0.0:1.0:0.0	.	119	Q8NGE1	OR6C4_HUMAN	H	119	ENSP00000377799:D119H	ENSP00000377799:D119H	D	+	1	0	OR6C4	54231632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.021000	0.93673	2.792000	0.96026	0.650000	0.86243	GAT		0.443	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			6	201	0	0	0	0.00308	0	6	201				
SPRYD4	283377	broad.mit.edu	37	12	56862988	56862988	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:56862988C>G	ENST00000338146.5	+	2	326	c.251C>G	c.(250-252)aCc>aGc	p.T84S	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	84	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T84S(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ACAGCGGTCACCAGTGGCAGA	0.582																																							uc001sli.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)ACC>AGC		SPRY domain containing 4							104.0	102.0	103.0					12																	56862988		2203	4300	6503	SO:0001583	missense	283377					nucleus		g.chr12:56862988C>G	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.251C>G	12.37:g.56862988C>G	ENSP00000338034:p.Thr84Ser					SPRYD4_uc010sqo.1_Intron	p.T84S	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN			2	326	+			84			B30.2/SPRY.		A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	c.251C>G	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	C	7.531	0.658651	0.14645	.	.	ENSG00000176422	ENST00000338146	T	0.60920	0.15	5.46	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.432599	0.30723	N	0.009006	T	0.33352	0.0860	N	0.15975	0.35	0.32308	N	0.564058	B	0.23128	0.08	B	0.16289	0.015	T	0.34625	-0.9821	10	0.08179	T	0.78	-11.1601	9.0246	0.36220	0.0:0.7707:0.1502:0.0791	.	84	Q8WW59	SPRY4_HUMAN	S	84	ENSP00000338034:T84S	ENSP00000338034:T84S	T	+	2	0	SPRYD4	55149255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.062000	0.41413	1.409000	0.46915	0.561000	0.74099	ACC		0.582	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		11	202	0	0	0	0.004007	0	11	202				
LRP1	4035	broad.mit.edu	37	12	57594926	57594926	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:57594926G>A	ENST00000243077.3	+	65	10801	c.10335G>A	c.(10333-10335)gaG>gaA	p.E3445E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3445	LDL-receptor class A 23. {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)	p.E3445E(1)		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)	GGGAGGATGAGAGGGACTGCC	0.592																																							uc001snd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10333-10335)GAG>GAA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						191.0	165.0	173.0					12																	57594926		2203	4300	6503	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.chr12:57594926G>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.10335G>A	12.37:g.57594926G>A							p.E3445E	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	65	10801	+			3445			Extracellular (Potential).|LDL-receptor class A 23.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.10335G>A	CCDS8932.1																																																																																				0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	230	0	0	0	0.00499	0	16	230				
DCTN2	10540	broad.mit.edu	37	12	57927771	57927771	+	Missense_Mutation	SNP	G	G	A	rs374804015		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:57927771G>A	ENST00000548249.1	-	7	901	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Missense_Mutation_p.R217W|DCTN2_ENST00000543672.1_Missense_Mutation_p.R217W|DCTN2_ENST00000537439.1_Missense_Mutation_p.R189W	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.R217W(4)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGCTCAGGCCGAGAATGTAGT	0.517																																							uc001som.1		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(1)	1						c.(634-636)CGG>TGG		dynactin 2		G	TRP/ARG	1,3845		0,1,1922	116.0	120.0	119.0		649	4.3	1.0	12		119	0,8242		0,0,4121	no	missense	DCTN2	NM_006400.3	101	0,1,6043	AA,AG,GG		0.0,0.026,0.0083	probably-damaging	217/407	57927771	1,12087	1923	4121	6044	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927771G>A	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.634C>T	12.37:g.57927771G>A	ENSP00000447824:p.Arg212Trp					DCTN2_uc009zpu.1_Missense_Mutation_p.R217W|DCTN2_uc009zpv.1_Missense_Mutation_p.R125W|DCTN2_uc009zpw.1_Missense_Mutation_p.R125W|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Missense_Mutation_p.R125W|DCTN2_uc001sop.1_Missense_Mutation_p.R125W|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.R212W	p.R212W	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			7	766	-			212					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.634C>T	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091969	0.76756	2.6E-4	0.0	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954	.	.	.	5.21	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.65773	0.897;0.923;0.938	T	0.78526	-0.2170	9	0.66056	D	0.02	-10.1649	13.0093	0.58722	0.0788:0.0:0.9212:0.0	.	212;217;212	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	W	212;217;217;189;212;125;96;226	.	ENSP00000346785:R212W	R	-	1	2	DCTN2	56214038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.002000	0.49496	1.584000	0.49913	0.655000	0.94253	CGG		0.517	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		10	114	0	0	0	0.006214	0	10	114				
TMPO	7112	broad.mit.edu	37	12	98941397	98941397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:98941397G>A	ENST00000556029.1	+	9	1482	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TMPO_ENST00000393053.2_Missense_Mutation_p.E267K|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.E336K	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	376	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGCCATTAGAACTCAGTGA	0.418																																							uc001tfj.2		NA																	0				ovary(2)	2						c.(1126-1128)GAA>AAA		thymopoietin isoform beta							61.0	65.0	64.0					12																	98941397		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941397G>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1126G>A	12.37:g.98941397G>A	ENSP00000450627:p.Glu376Lys					TMPO_uc001tfk.2_Missense_Mutation_p.E267K|TMPO_uc001tfl.2_RNA	p.E376K	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			9	1363	+			376			Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1126G>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828588	0.50845	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.72615	0.39;0.38;-0.03;-0.67	5.59	5.59	0.84812	.	.	.	.	.	T	0.58004	0.2092	L	0.35288	1.05	0.80722	D	1	P;B	0.37781	0.608;0.072	B;B	0.32980	0.156;0.027	T	0.59273	-0.7485	9	0.38643	T	0.18	.	13.2078	0.59807	0.0729:0.0:0.9271:0.0	.	300;376	Q59G12;P42167	.;LAP2B_HUMAN	K	376;336;267;211	ENSP00000450627:E376K;ENSP00000340251:E336K;ENSP00000376773:E267K;ENSP00000451552:E211K	ENSP00000340251:E376K	E	+	1	0	TMPO	97465528	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	4.940000	0.63533	2.783000	0.95769	0.655000	0.94253	GAA		0.418	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		9	93	0	0	0	0.008291	0	9	93				
ALDH2	217	broad.mit.edu	37	12	112230500	112230500	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:112230500G>A	ENST00000261733.2	+	9	1058	c.997G>A	c.(997-999)Gat>Aat	p.D333N	ALDH2_ENST00000416293.3_Missense_Mutation_p.D286N	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	333					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.D333N(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GGACATCTATGATGAGTTTGT	0.632			T	HMGA2	leiomyoma																																		uc001tst.2		NA		Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(997-999)GAT>AAT		mitochondrial aldehyde dehydrogenase 2	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						35.0	29.0	31.0					12																	112230500		2203	4300	6503	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity	g.chr12:112230500G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.997G>A	12.37:g.112230500G>A	ENSP00000261733:p.Asp333Asn					ALDH2_uc010syi.1_Missense_Mutation_p.D286N|ALDH2_uc009zvy.2_Missense_Mutation_p.D257N	p.D333N	NM_000690	NP_000681	P05091	ALDH2_HUMAN			9	1438	+			333					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.997G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368496	0.24771	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.21932	1.98;1.98	5.75	-7.61	0.01299	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	1.281330	0.05066	N	0.480767	T	0.30916	0.0780	M	0.93507	3.425	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.002	B;B;B	0.29862	0.108;0.001;0.03	T	0.54642	-0.8263	10	0.59425	D	0.04	.	2.7426	0.05257	0.5116:0.1366:0.1206:0.2312	.	286;257;333	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	N	286;333;257;193	ENSP00000403349:D286N;ENSP00000261733:D333N	ENSP00000261733:D333N	D	+	1	0	ALDH2	110714883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.294000	0.08309	-1.057000	0.03201	-0.793000	0.03317	GAT		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		3	22	0	0	0	0.009096	0	3	22				
TMEM132B	114795	broad.mit.edu	37	12	126138200	126138200	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:126138200C>T	ENST00000299308.3	+	9	2189	c.2181C>T	c.(2179-2181)gtC>gtT	p.V727V	TMEM132B_ENST00000535886.1_Silent_p.V239V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	727						integral component of membrane (GO:0016021)		p.V727V(1)		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)		CTGTTACTGTCTCATCATTGG	0.423																																							uc001uhe.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2179-2181)GTC>GTT		transmembrane protein 132B							130.0	127.0	128.0					12																	126138200		1934	4126	6060	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138200C>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.2181C>T	12.37:g.126138200C>T						TMEM132B_uc001uhf.1_Silent_p.V239V	p.V727V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2189	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		727			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2181C>T	CCDS41859.1																																																																																				0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		61	166	0	0	0	0.01441	0	61	166				
TNFRSF19	55504	broad.mit.edu	37	13	24200845	24200845	+	Splice_Site	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:24200845G>C	ENST00000382258.4	+	5	563		c.e5-1		TNFRSF19_ENST00000248484.4_Splice_Site|TNFRSF19_ENST00000403372.2_Splice_Site|TNFRSF19_ENST00000382263.3_Splice_Site	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19						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)	p.?(1)		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)		TTCTCTTCTAGATTTTATAGG	0.428																																							uc001uov.1		NA																	1	Unknown(1)		lung(1)	kidney(1)|skin(1)	2						c.e5-1		tumor necrosis factor receptor superfamily,							96.0	90.0	92.0					13																	24200845		2203	4300	6503	SO:0001630	splice_region_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200845G>C	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.360-1G>C	13.37:g.24200845G>C						TNFRSF19_uc001uot.2_Splice_Site_p.G120_splice|TNFRSF19_uc010tcu.1_Splice_Site|TNFRSF19_uc001uow.2_Splice_Site_p.G120_splice	p.G120_splice	NM_018647	NP_061117	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)	5	424	+		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)						A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Splice_Site	SNP	ENST00000382258.4	37	c.360_splice	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0446	0.93015	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF19	23098845	1.000000	0.71417	0.991000	0.47740	0.051000	0.14879	8.083000	0.89515	2.608000	0.88229	0.585000	0.79938	.		0.428	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647	Intron	6	47	0	0	0	0.001168	0	6	47				
ATP12A	479	broad.mit.edu	37	13	25284699	25284699	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:25284699G>C	ENST00000381946.3	+	20	3032	c.2865G>C	c.(2863-2865)cgG>cgC	p.R955R	ATP12A_ENST00000218548.6_Silent_p.R961R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	955					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R955R(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ggaaaACCCGGAGGAATTCCA	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)	Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2863-2865)CGG>CGC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						97.0	101.0	99.0					13																	25284699		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25284699G>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2865G>C	13.37:g.25284699G>C						ATP12A_uc010aaa.2_Silent_p.R961R	p.R955R	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	20	3052	+		Lung SC(185;0.0225)|Breast(139;0.077)	955			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.2865G>C	CCDS31948.1																																																																																				0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		16	138	0	0	0	0.00499	0	16	138				
TRPC4	7223	broad.mit.edu	37	13	38357157	38357157	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:38357157C>G	ENST00000379705.3	-	2	1171	c.314G>C	c.(313-315)aGa>aCa	p.R105T	TRPC4_ENST00000379673.2_Missense_Mutation_p.R105T|TRPC4_ENST00000358477.2_Missense_Mutation_p.R105T|TRPC4_ENST00000338947.5_Missense_Mutation_p.R105T|TRPC4_ENST00000379681.3_Missense_Mutation_p.R105T|TRPC4_ENST00000355779.2_Missense_Mutation_p.R105T|TRPC4_ENST00000426868.2_Missense_Mutation_p.R105T|TRPC4_ENST00000379679.1_Missense_Mutation_p.R105T|TRPC4_ENST00000447043.1_Missense_Mutation_p.R105T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	105	Multimerization domain. {ECO:0000250}.				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)	p.R105T(2)		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)		GACTTCTTTTCTGATAGCATG	0.368																																							uc001uws.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(313-315)AGA>ACA		transient receptor potential cation channel,							64.0	65.0	64.0					13																	38357157		2203	4300	6503	SO:0001583	missense	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.chr13:38357157C>G	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.314G>C	13.37:g.38357157C>G	ENSP00000369027:p.Arg105Thr					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.R105T|TRPC4_uc010tey.1_Missense_Mutation_p.R105T|TRPC4_uc010abw.2_Missense_Mutation_p.R105T|TRPC4_uc010abx.2_Missense_Mutation_p.R105T|TRPC4_uc010aby.2_Missense_Mutation_p.R105T	p.R105T	NM_016179	NP_057263	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)	2	549	-			105			ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.314G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944750	0.73672	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.09;-0.09;-0.21;-0.21;-0.21;-0.21;-0.21	6.01	5.17	0.71159	Ankyrin repeat-containing domain (3);	0.082787	0.85682	D	0.000000	T	0.73721	0.3623	L	0.45228	1.405	0.46849	D	0.999222	D;D;D;D;D;D	0.76494	0.999;0.964;0.989;0.989;0.998;0.998	D;P;D;D;D;D	0.76575	0.979;0.839;0.985;0.985;0.979;0.988	T	0.68953	-0.5273	10	0.13470	T	0.59	-22.7158	15.4413	0.75184	0.0:0.9336:0.0:0.0664	.	105;105;105;105;105;105	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	T	105	ENSP00000369027:R105T;ENSP00000369003:R105T;ENSP00000342580:R105T;ENSP00000369001:R105T;ENSP00000410133:R105T;ENSP00000348025:R105T;ENSP00000351264:R105T;ENSP00000368995:R105T;ENSP00000414316:R105T	ENSP00000342580:R105T	R	-	2	0	TRPC4	37255157	1.000000	0.71417	0.985000	0.45067	0.667000	0.39255	7.818000	0.86416	1.557000	0.49525	0.650000	0.86243	AGA		0.368	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	60	0	0	0	0.000602	0	4	60				
HECTD1	25831	broad.mit.edu	37	14	31602521	31602521	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:31602521C>T	ENST00000399332.1	-	24	4333	c.3845G>A	c.(3844-3846)aGa>aAa	p.R1282K	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1282K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1282	MIB/HERC2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				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)	p.R1282K(1)		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)		ATCCAGGCCTCTGATAACACG	0.502																																							uc001wrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(3844-3846)AGA>AAA		HECT domain containing 1							92.0	89.0	90.0					14																	31602521		1948	4149	6097	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31602521C>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.3845G>A	14.37:g.31602521C>T	ENSP00000382269:p.Arg1282Lys					HECTD1_uc001wrd.1_Missense_Mutation_p.R797K	p.R1282K	NM_015382	NP_056197	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)	24	4334	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1282			MIB/HERC2.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3845G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825945	0.96996	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	D;D;T	0.88046	-2.33;-2.33;-0.31	5.98	5.98	0.97165	Mib-herc2 (2);	0.000000	0.64402	U	0.000002	D	0.95648	0.8585	M	0.93328	3.405	0.80722	D	1	D;P	0.63046	0.992;0.92	D;D	0.76071	0.987;0.946	D	0.95852	0.8875	10	0.87932	D	0	-13.099	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1282;1282	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	1282;1284;1282;756	ENSP00000450697:R1282K;ENSP00000382269:R1282K;ENSP00000451860:R756K	ENSP00000261312:R1284K	R	-	2	0	HECTD1	30672272	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.469000	0.80959	2.835000	0.97688	0.650000	0.86243	AGA		0.502	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			13	75	0	0	0	0.001855	0	13	75				
AKAP6	9472	broad.mit.edu	37	14	33293407	33293407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:33293407G>C	ENST00000280979.4	+	13	6558	c.6388G>C	c.(6388-6390)Gaa>Caa	p.E2130Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2130					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)	p.E2130Q(1)		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)		CAATTACATAGAAGAGAAAAG	0.463																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(6388-6390)GAA>CAA		A-kinase anchor protein 6							110.0	105.0	107.0					14																	33293407		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293407G>C	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.6388G>C	14.37:g.33293407G>C	ENSP00000280979:p.Glu2130Gln						p.E2130Q	NM_004274	NP_004265	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)	13	6558	+	Breast(36;0.0388)|Prostate(35;0.15)		2130					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6388G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928912	0.73327	.	.	ENSG00000151320	ENST00000280979	T	0.55234	0.53	6.03	6.03	0.97812	.	0.236405	0.41500	D	0.000866	T	0.56992	0.2023	M	0.62723	1.935	0.80722	D	1	P	0.46706	0.883	B	0.42827	0.399	T	0.62015	-0.6943	10	0.87932	D	0	-7.9137	18.7374	0.91761	0.0:0.0:1.0:0.0	.	2130	Q13023	AKAP6_HUMAN	Q	2130	ENSP00000280979:E2130Q	ENSP00000280979:E2130Q	E	+	1	0	AKAP6	32363158	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.162000	0.94745	2.861000	0.98227	0.655000	0.94253	GAA		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		10	108	0	0	0	0.010729	0	10	108				
RALGAPA1	253959	broad.mit.edu	37	14	36190907	36190907	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:36190907C>T	ENST00000389698.3	-	16	2643	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R	RALGAPA1_ENST00000382366.3_Silent_p.R751R|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Silent_p.R751R|RALGAPA1_ENST00000258840.6_Silent_p.R751R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	751					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)	p.R751R(2)		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						CAGTTTTTTGCCGTACTATAC	0.428																																							uc001wti.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)	4						c.(2251-2253)CGG>CGA		Ral GTPase activating protein, alpha subunit 1							164.0	152.0	156.0					14																	36190907		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36190907C>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.2253G>A	14.37:g.36190907C>T						RALGAPA1_uc001wtj.2_Silent_p.R751R|RALGAPA1_uc010tpv.1_Silent_p.R751R|RALGAPA1_uc010tpw.1_Silent_p.R751R|RALGAPA1_uc001wtk.1_Silent_p.R602R	p.R751R	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			16	2644	-			751					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.2253G>A	CCDS32065.1																																																																																				0.428	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	205	0	0	0	0.009096	0	4	205				
GCH1	2643	broad.mit.edu	37	14	55312565	55312565	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:55312565C>G	ENST00000491895.2	-	5	735	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Missense_Mutation_p.E183Q|GCH1_ENST00000395514.1_Missense_Mutation_p.E183Q|GCH1_ENST00000543643.2_Missense_Mutation_p.E183Q	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	183					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.E183Q(1)		endometrium(2)|lung(7)|skin(2)	11						GTAAGGCGCTCCTGAACTGTG	0.453																																					Pancreas(198;1245 2204 4807 21567 38372)	Pancreas(198;1245 2204 4807 21567 38372)	uc001xbh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1	GRCh37	CM090760	GCH1	M		c.(547-549)GAG>CAG		GTP cyclohydrolase 1 isoform 1							99.0	93.0	95.0					14																	55312565		2203	4300	6503	SO:0001583	missense	2643				dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	g.chr14:55312565C>G	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.547G>C	14.37:g.55312565C>G	ENSP00000419045:p.Glu183Gln					GCH1_uc001xbi.1_Missense_Mutation_p.E183Q|GCH1_uc001xbj.1_Missense_Mutation_p.E183Q|GCH1_uc001xbk.1_Missense_Mutation_p.E183Q|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Missense_Mutation_p.E183Q	p.E183Q	NM_001024024	NP_001019195	P30793	GCH1_HUMAN			5	708	-			183					Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	c.547G>C	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998037	0.74818	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99931	-8.19;-8.19;-8.19;-8.19	6.17	6.17	0.99709	GTP cyclohydrolase I/Nitrile oxidoreductase (1);GTP cyclohydrolase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	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	1.0;1.0;1.0	D	0.96505	0.9374	10	0.87932	D	0	-13.9459	20.8794	0.99867	0.0:1.0:0.0:0.0	.	183;183;183	P30793-2;P30793-4;P30793	.;.;GCH1_HUMAN	Q	183	ENSP00000378890:E183Q;ENSP00000444011:E183Q;ENSP00000419045:E183Q;ENSP00000445246:E183Q	ENSP00000378890:E183Q	E	-	1	0	GCH1	54382315	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.787000	0.85759	2.941000	0.99782	0.655000	0.94253	GAG		0.453	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			10	137	0	0	0	0.008291	0	10	137				
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:69697274C>G	ENST00000409018.3	+	4	804	c.676C>G	c.(676-678)Cgt>Ggt	p.R226G	EXD2_ENST00000409675.1_Missense_Mutation_p.R101G|EXD2_ENST00000409949.1_Missense_Mutation_p.R101G|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.R101G|EXD2_ENST00000449989.1_Missense_Mutation_p.R101G|EXD2_ENST00000409242.1_Missense_Mutation_p.R101G|EXD2_ENST00000312994.5_Missense_Mutation_p.R226G	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	226	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423																																							uc001xkt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(301-303)CGT>GGT		exonuclease 3'-5' domain containing 2							157.0	151.0	153.0					14																	69697274		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69697274C>G	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.676C>G	14.37:g.69697274C>G	ENSP00000387331:p.Arg226Gly					EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Missense_Mutation_p.R226G|EXD2_uc001xkw.2_Missense_Mutation_p.R101G|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.R226G|EXD2_uc010tte.1_Missense_Mutation_p.R226G|EXD2_uc001xky.2_Missense_Mutation_p.R101G	p.R101G	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			6	960	+			101			3'-5' exonuclease.		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.301C>G	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451167	0.84209	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.33	5.33	0.75918	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.80847	2.515	0.80722	D	1	P;D	0.56746	0.947;0.977	P;P	0.61940	0.863;0.896	T	0.80741	-0.1247	10	0.87932	D	0	-12.6898	14.2579	0.66065	0.149:0.851:0.0:0.0	.	226;101	G5E947;Q9NVH0	.;EXD2_HUMAN	G	226;226;101;101;101;101;226;101;101	ENSP00000387331:R226G;ENSP00000386915:R101G;ENSP00000386762:R101G;ENSP00000386632:R101G;ENSP00000386839:R101G;ENSP00000313140:R226G;ENSP00000409089:R101G;ENSP00000392177:R101G	ENSP00000193422:R226G	R	+	1	0	EXD2	68767027	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.242000	0.58714	2.637000	0.89404	0.655000	0.94253	CGT		0.423	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			18	188	0	0	0	0.008871	0	18	188				
TMEM63C	57156	broad.mit.edu	37	14	77685839	77685839	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:77685839A>G	ENST00000298351.4	+	4	294		c.e4-1		RP11-463C8.4_ENST00000557752.1_Splice_Site	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGGCCTGTAGCTCGTCCTT	0.597																																							uc001xtf.2		NA																	1	Unknown(1)		lung(1)		0						c.e4-2		transmembrane protein 63C							115.0	124.0	121.0					14																	77685839		2113	4230	6343	SO:0001630	splice_region_variant	57156					integral to membrane		g.chr14:77685839A>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.151-1A>G	14.37:g.77685839A>G						TMEM63C_uc010asq.1_Splice_Site_p.L51_splice	p.L51_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	4	363	+								B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Splice_Site	SNP	ENST00000298351.4	37	c.151_splice	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016031	0.75161	.	.	ENSG00000165548	ENST00000555338;ENST00000554766;ENST00000298351	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8752	0.41200	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63C	76755592	1.000000	0.71417	0.079000	0.20413	0.972000	0.66771	6.382000	0.73167	1.659000	0.50751	0.386000	0.25728	.		0.597	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		Intron	3	185	0	0	0	0.00245	0	3	185				
SERPINA5	5104	broad.mit.edu	37	14	95058516	95058516	+	Silent	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:95058516C>A	ENST00000554866.1	+	5	1275	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P	RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.P387P|SERPINA5_ENST00000553780.1_Silent_p.P387P|SERPINA5_ENST00000329597.7_Silent_p.P387P			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	387					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P387P(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCAACAGGCCCTTTCTGATGT	0.557																																							uc001ydm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1159-1161)CCC>CCA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						226.0	242.0	237.0					14																	95058516		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058516C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1161C>A	14.37:g.95058516C>A						SERPINA3_uc001ydo.3_Intron	p.P387P	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1371	+			387					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1161C>A	CCDS9928.1																																																																																				0.557	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		97	603	1	0	9.50263e-46	0.01441	1.0803e-45	97	603				
OCA2	4948	broad.mit.edu	37	15	28260068	28260068	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:28260068C>A	ENST00000354638.3	-	9	1053	c.898G>T	c.(898-900)Gtg>Ttg	p.V300L	OCA2_ENST00000353809.5_Missense_Mutation_p.V300L|OCA2_ENST00000382996.2_Missense_Mutation_p.V300L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	300					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)	p.V300L(1)		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)		CTGATGGACACCGTCTCTCTG	0.537									Oculocutaneous Albinism																														uc001zbh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(898-900)GTG>TTG		oculocutaneous albinism II							110.0	79.0	89.0					15																	28260068		2203	4300	6503	SO:0001583	missense	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.chr15:28260068C>A		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.898G>T	15.37:g.28260068C>A	ENSP00000346659:p.Val300Leu					OCA2_uc010ayv.2_Missense_Mutation_p.V300L	p.V300L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1008	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	300			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.898G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896326	0.17686	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91237	-2.67;-2.81;-2.65	5.55	2.12	0.27331	.	0.306225	0.33110	N	0.005263	D	0.85035	0.5605	L	0.54323	1.7	0.27780	N	0.943195	B;B	0.22080	0.012;0.064	B;B	0.18561	0.022;0.019	T	0.73461	-0.3975	10	0.34782	T	0.22	-14.8009	6.332	0.21274	0.0:0.5119:0.0:0.4881	.	300;300	Q04671-2;Q04671	.;P_HUMAN	L	300	ENSP00000346659:V300L;ENSP00000261276:V300L;ENSP00000372457:V300L	ENSP00000261276:V300L	V	-	1	0	OCA2	25933663	0.978000	0.34361	0.138000	0.22173	0.028000	0.11728	2.040000	0.41203	0.312000	0.23038	0.655000	0.94253	GTG		0.537	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		9	25	1	0	2.31682e-05	0.003163	2.51474e-05	9	25				
MYO5A	4644	broad.mit.edu	37	15	52645805	52645805	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:52645805G>C	ENST00000399231.3	-	27	3861	c.3618C>G	c.(3616-3618)ctC>ctG	p.L1206L	MYO5A_ENST00000399233.2_Silent_p.L1206L|MYO5A_ENST00000356338.6_Silent_p.L1206L|MYO5A_ENST00000553916.1_Silent_p.L1206L|MYO5A_ENST00000358212.6_Silent_p.L1206L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1206					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)	p.L1206L(1)		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)		CCATTACCTTGAGTGACTCAT	0.368																																							uc002aby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3616-3618)CTC>CTG		myosin VA isoform 1							107.0	105.0	106.0					15																	52645805		1818	4077	5895	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52645805G>C		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.3618C>G	15.37:g.52645805G>C						MYO5A_uc002abx.3_Silent_p.L1206L|MYO5A_uc010ugd.1_5'Flank|MYO5A_uc002aca.1_5'Flank|MYO5A_uc002acb.1_5'Flank|MYO5A_uc002acc.1_5'Flank	p.L1206L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	27	3862	-			1206			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3618C>G	CCDS42037.1																																																																																				0.368	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		5	111	0	0	0	0.001168	0	5	111				
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:4242554C>T	ENST00000399609.3	-	6	1034	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	SRL_ENST00000537996.1_Missense_Mutation_p.R299H	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512																																							uc002cvz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1021-1023)CGC>CAC		sarcalumenin							129.0	138.0	135.0					16																	4242554		2120	4235	6355	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242554C>T	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1022G>A	16.37:g.4242554C>T	ENSP00000382518:p.Arg341His					SRL_uc002cvy.3_RNA	p.R341H	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			6	1035	-			800						Missense_Mutation	SNP	ENST00000399609.3	37	c.1022G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159235	0.94686	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.85556	-2.0;-2.0	5.97	5.97	0.96955	.	0.000000	0.85682	U	0.000000	D	0.92958	0.7759	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92826	0.6276	10	0.87932	D	0	-11.4353	20.4239	0.99064	0.0:1.0:0.0:0.0	.	341	Q86TD4-2	.	H	341;799;299	ENSP00000382518:R341H;ENSP00000440350:R299H	ENSP00000333285:R799H	R	-	2	0	SRL	4182555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.828000	0.97474	0.655000	0.94253	CGC		0.512	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		6	310	0	0	0	0.001984	0	6	310				
NOMO2	283820	broad.mit.edu	37	16	18555015	18555015	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:18555015G>C	ENST00000381474.3	-	7	724	c.659C>G	c.(658-660)tCt>tGt	p.S220C	NOMO2_ENST00000330537.6_Missense_Mutation_p.S220C|NOMO2_ENST00000543392.1_Missense_Mutation_p.S53C	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	220						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S220C(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GACAGAGCCAGACACATTGTA	0.448																																							uc002dfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(658-660)TCT>TGT		nodal modulator 2 isoform 1							110.0	91.0	98.0					16																	18555015		2196	4297	6493	SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18555015G>C	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.659C>G	16.37:g.18555015G>C	ENSP00000370883:p.Ser220Cys					NOMO2_uc002dff.2_Missense_Mutation_p.S220C|NOMO2_uc010bvx.2_Missense_Mutation_p.S53C	p.S220C	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN			7	731	-			220			Lumenal (Potential).		Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	c.659C>G	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.647219	0.67358	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04502	3.62;3.61;3.61	3.24	3.24	0.37175	Carboxypeptidase-like, regulatory domain (1);	0.061562	0.64402	D	0.000003	T	0.14399	0.0348	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.71674	0.998;0.995	P;P	0.54270	0.747;0.628	T	0.03287	-1.1052	10	0.62326	D	0.03	-18.7024	13.9357	0.64023	0.0:0.0:1.0:0.0	.	53;220	Q4G177;Q5JPE7	.;NOMO2_HUMAN	C	220;220;53	ENSP00000331851:S220C;ENSP00000370883:S220C;ENSP00000439970:S53C	ENSP00000331851:S220C	S	-	2	0	NOMO2	18462516	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	8.615000	0.90920	1.781000	0.52344	0.400000	0.26472	TCT		0.448	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		4	43	0	0	0	0.00308	0	4	43				
ATXN2L	11273	broad.mit.edu	37	16	28844383	28844383	+	Nonsense_Mutation	SNP	C	C	T	rs368802096		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:28844383C>T	ENST00000336783.4	+	14	1830	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.Q561*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.Q555*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.Q555*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	555					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTTCCAGCTTCAGCCCAGTAG	0.493																																							uc002drc.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1663-1665)CAG>TAG		ataxin 2 related protein isoform A							125.0	129.0	128.0					16																	28844383		2197	4300	6497	SO:0001587	stop_gained	11273					membrane		g.chr16:28844383C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1663C>T	16.37:g.28844383C>T	ENSP00000338718:p.Gln555*					uc010vct.1_Intron|ATXN2L_uc010byl.1_Nonsense_Mutation_p.Q531*|ATXN2L_uc002drb.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dqy.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dra.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002dqz.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc010vdb.1_Nonsense_Mutation_p.Q561*|ATXN2L_uc002dre.2_Nonsense_Mutation_p.Q555*|ATXN2L_uc002drf.2_5'UTR|ATXN2L_uc002drg.2_5'Flank	p.Q555*	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			14	1831	+			555					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	c.1663C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	39	7.798698	0.98495	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.7816	18.5321	0.90996	0.0:1.0:0.0:0.0	.	.	.	.	X	555	.	ENSP00000315650:Q555X	Q	+	1	0	ATXN2L	28751884	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.782000	0.68973	2.686000	0.91538	0.561000	0.74099	CAG		0.493	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		6	280	0	0	0	0.00308	0	6	280				
PHLPP2	23035	broad.mit.edu	37	16	71713353	71713353	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:71713353C>T	ENST00000568954.1	-	7	1354	c.976G>A	c.(976-978)Gag>Aag	p.E326K	PHLPP2_ENST00000360429.3_Missense_Mutation_p.E326K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E361K|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E326K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E326K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	326					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)	p.E326K(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGGTTGAGCTCAGTCAGGGTA	0.398																																							uc002fax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(976-978)GAG>AAG		PH domain and leucine rich repeat protein							100.0	95.0	96.0					16																	71713353		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71713353C>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.976G>A	16.37:g.71713353C>T	ENSP00000457991:p.Glu326Lys					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.E326K|PHLPP2_uc002fay.1_Missense_Mutation_p.E326K	p.E326K	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			6	982	-			326			LRR 4.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.976G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.877195	0.97055	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.05855	3.38;3.38;3.38	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	N	0.21194	0.64	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.13442	-1.0509	10	0.27082	T	0.32	-20.5575	19.545	0.95291	0.0:1.0:0.0:0.0	.	326;326	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	133;326;326;326;326	ENSP00000353610:E326K;ENSP00000348611:E326K;ENSP00000377159:E326K	ENSP00000299971:E133K	E	-	1	0	PHLPP2	70270854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		0.398	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		10	96	0	0	0	0.008291	0	10	96				
GID4	79018	broad.mit.edu	37	17	17948480	17948480	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:17948480C>G	ENST00000268719.4	+	2	631	c.458C>G	c.(457-459)tCt>tGt	p.S153C	GID4_ENST00000376345.3_Missense_Mutation_p.S153C	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	153								p.S153C(1)									ACGGGGAACTCTTACCTTTGT	0.468																																							uc002gsg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(457-459)TCT>TGT		hypothetical protein LOC79018							162.0	136.0	145.0					17																	17948480		2203	4300	6503	SO:0001583	missense	79018							g.chr17:17948480C>G	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.458C>G	17.37:g.17948480C>G	ENSP00000268719:p.Ser153Cys						p.S153C	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN			2	626	+	all_neural(463;0.228)		153					Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.458C>G	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242490	0.79912	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	5.8	5.8	0.92144	.	0.121832	0.56097	D	0.000024	T	0.68393	0.2996	M	0.76838	2.35	0.80722	D	1	P	0.35745	0.518	B	0.36922	0.236	T	0.71083	-0.4695	9	0.59425	D	0.04	-7.4357	19.6418	0.95760	0.0:1.0:0.0:0.0	.	153	Q8IVV7	CQ039_HUMAN	C	153;70	.	ENSP00000268719:S153C	S	+	2	0	C17orf39	17889205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.397000	0.79903	2.749000	0.94314	0.655000	0.94253	TCT		0.468	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		6	68	0	0	0	0.004482	0	6	68				
ALDH3A1	218	broad.mit.edu	37	17	19641686	19641686	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:19641686G>C	ENST00000457500.2	-	9	1626	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.L360V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.L433V|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.L369V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.L433V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	433					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.L433V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TCATTCATCAGAGGCCTCACC	0.622																																							uc010cqu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1297-1299)CTG>GTG		aldehyde dehydrogenase 3A1	NADH(DB00157)						70.0	75.0	73.0					17																	19641686		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19641686G>C	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1297C>G	17.37:g.19641686G>C	ENSP00000411821:p.Leu433Val					ALDH3A1_uc010vzd.1_Missense_Mutation_p.L433V|ALDH3A1_uc002gwj.2_Missense_Mutation_p.L433V|ALDH3A1_uc010cqv.2_Missense_Mutation_p.L432V|ALDH3A1_uc002gwk.2_Missense_Mutation_p.L550V|ALDH3A1_uc002gwl.1_Missense_Mutation_p.L360V	p.L433V	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	9	1627	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		433					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1297C>G	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535635	0.27475	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	4.56	2.55	0.30701	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	D	0.82825	0.5121	L	0.52905	1.665	0.54753	D	0.999983	P;D;P	0.55605	0.894;0.972;0.894	P;P;P	0.52909	0.701;0.713;0.701	T	0.76501	-0.2936	10	0.17369	T	0.5	-27.4957	5.7241	0.18002	0.1767:0.1599:0.6635:0.0	.	433;550;433	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	V	433;369;491;433;433;360	ENSP00000225740:L433V;ENSP00000378923:L369V;ENSP00000388469:L433V;ENSP00000411821:L433V	ENSP00000225740:L433V	L	-	1	2	ALDH3A1	19582278	1.000000	0.71417	0.855000	0.33649	0.554000	0.35429	2.416000	0.44644	0.370000	0.24538	0.462000	0.41574	CTG		0.622	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		39	213	0	0	0	0.01441	0	39	213				
CNP	1267	broad.mit.edu	37	17	40125572	40125572	+	Missense_Mutation	SNP	G	G	A	rs199688240		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:40125572G>A	ENST00000393892.3	+	4	1040	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.R64Q|CNP_ENST00000393888.1_Missense_Mutation_p.R279Q	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	299					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)	p.R279Q(1)|p.R299Q(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		ACTGGGGCCCGGGTGGAGTTA	0.587																																							uc002hyl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(895-897)CGG>CAG		2',3'-cyclic nucleotide 3' phosphodiesterase							99.0	111.0	107.0					17																	40125572		2017	4186	6203	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40125572G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.896G>A	17.37:g.40125572G>A	ENSP00000377470:p.Arg299Gln					CNP_uc010wfz.1_Missense_Mutation_p.R176Q|CNP_uc002hym.1_Missense_Mutation_p.R279Q|CNP_uc010wga.1_Missense_Mutation_p.R64Q|CNP_uc002hyn.1_Missense_Mutation_p.R64Q	p.R299Q	NM_033133	NP_149124	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	4	1040	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	299						Missense_Mutation	SNP	ENST00000393892.3	37	c.896G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337663	0.41398	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.51574	0.7;0.7	4.63	1.55	0.23275	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.228615	0.32593	N	0.005891	T	0.24851	0.0603	L	0.33245	0.995	0.26055	N	0.981423	B;P	0.44195	0.175;0.828	B;B	0.25614	0.023;0.062	T	0.15752	-1.0426	10	0.44086	T	0.13	-20.1767	7.3595	0.26737	0.2815:0.0:0.7185:0.0	.	176;299	B4DI06;P09543	.;CN37_HUMAN	Q	299;175;279	ENSP00000377470:R299Q;ENSP00000377466:R279Q	ENSP00000309643:R175Q	R	+	2	0	CNP	37379098	0.991000	0.36638	0.996000	0.52242	0.709000	0.40893	2.155000	0.42301	0.189000	0.20188	0.561000	0.74099	CGG		0.587	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			6	351	0	0	0	0.001984	0	6	351				
ABCC3	8714	broad.mit.edu	37	17	48738458	48738458	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:48738458C>G	ENST00000285238.8	+	8	1061	c.981C>G	c.(979-981)atC>atG	p.I327M	ABCC3_ENST00000427699.1_Missense_Mutation_p.I327M	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	327	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	p.I327M(2)		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)	TCTCCTTCATCAATCCACAGC	0.607																																							uc002isl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(979-981)ATC>ATG		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						74.0	62.0	66.0					17																	48738458		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48738458C>G	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.981C>G	17.37:g.48738458C>G	ENSP00000285238:p.Ile327Met					ABCC3_uc002isk.3_Missense_Mutation_p.I327M|ABCC3_uc002ism.2_5'Flank	p.I327M	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		8	1061	+			327			Extracellular (By similarity).|ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.981C>G	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248686	0.22880	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.90444	-2.67;-2.67	4.65	2.53	0.30540	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.896444	0.09491	N	0.794951	D	0.90120	0.6913	L	0.41710	1.295	0.38175	D	0.939455	P;P	0.46912	0.707;0.886	P;P	0.53401	0.715;0.725	D	0.85262	0.1051	10	0.54805	T	0.06	-8.8223	8.4765	0.33016	0.0:0.7168:0.1294:0.1538	.	327;327	O15438;O15438-5	MRP3_HUMAN;.	M	327	ENSP00000395160:I327M;ENSP00000285238:I327M	ENSP00000285238:I327M	I	+	3	3	ABCC3	46093457	1.000000	0.71417	0.629000	0.29254	0.165000	0.22458	2.481000	0.45215	0.581000	0.29539	-1.579000	0.00862	ATC		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		3	79	0	0	0	0.004672	0	3	79				
CCDC47	57003	broad.mit.edu	37	17	61843460	61843460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:61843460C>A	ENST00000225726.5	-	2	458	c.76G>T	c.(76-78)Gag>Tag	p.E26*	CCDC47_ENST00000403162.3_Nonsense_Mutation_p.E26*|CCDC47_ENST00000582252.1_Nonsense_Mutation_p.E26*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	26					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E26*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCCTCATCCTCAAAATCATCA	0.408																																							uc002jbs.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(76-78)GAG>TAG		coiled-coil domain containing 47 precursor							148.0	133.0	138.0					17																	61843460		2203	4300	6503	SO:0001587	stop_gained	57003					integral to membrane	protein binding	g.chr17:61843460C>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.76G>T	17.37:g.61843460C>A	ENSP00000225726:p.Glu26*					CCDC47_uc010ddx.2_Nonsense_Mutation_p.E26*|CCDC47_uc002jbt.2_Nonsense_Mutation_p.E26*	p.E26*	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			2	412	-			26					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Nonsense_Mutation	SNP	ENST00000225726.5	37	c.76G>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052302	0.75960	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	4.89	4.89	0.63831	.	0.101382	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.4371	17.5787	0.87958	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000225726:E26X	E	-	1	0	CCDC47	59197192	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	7.500000	0.81588	2.695000	0.91970	0.557000	0.71058	GAG		0.408	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		18	225	1	0	1.01871e-10	0.008871	1.14011e-10	18	225				
CEP131	22994	broad.mit.edu	37	17	79168681	79168681	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:79168681A>G	ENST00000269392.4	-	17	2364	c.2117T>C	c.(2116-2118)gTc>gCc	p.V706A	AZI1_ENST00000575907.1_Missense_Mutation_p.V706A|AZI1_ENST00000374782.3_Missense_Mutation_p.V703A|AZI1_ENST00000450824.2_Missense_Mutation_p.V703A|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		706					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.V703A(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGACAGTGACCTCCTTGAT	0.552																																							uc002jzp.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2116-2118)GTC>GCC		5-azacytidine induced 1 isoform a							181.0	191.0	188.0					17																	79168681		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79168681A>G																												ENST00000269392.4:c.2117T>C	17.37:g.79168681A>G	ENSP00000269392:p.Val706Ala					AZI1_uc002jzm.1_Missense_Mutation_p.V133A|AZI1_uc002jzn.1_Missense_Mutation_p.V703A|AZI1_uc002jzo.1_Missense_Mutation_p.V703A|AZI1_uc010wum.1_Missense_Mutation_p.V706A|AZI1_uc002jzq.2_5'Flank	p.V706A	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		17	2317	-	all_neural(118;0.0804)|Melanoma(429;0.242)		706					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2117T>C		.	.	.	.	.	.	.	.	.	.	A	13.63	2.293673	0.40594	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.13778	2.56;2.57;2.56	4.11	4.11	0.48088	.	0.117006	0.56097	D	0.000023	T	0.08626	0.0214	N	0.19112	0.55	0.31953	N	0.60946	B;B;B;B	0.10296	0.001;0.0;0.003;0.0	B;B;B;B	0.13407	0.004;0.002;0.009;0.002	T	0.12293	-1.0553	10	0.11182	T	0.66	-13.1481	12.9421	0.58350	1.0:0.0:0.0:0.0	.	703;706;703;703	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	A	703;703;706	ENSP00000393583:V703A;ENSP00000363914:V703A;ENSP00000269392:V706A	ENSP00000269392:V706A	V	-	2	0	AZI1	76783276	1.000000	0.71417	0.979000	0.43373	0.556000	0.35491	6.771000	0.74996	1.719000	0.51432	0.482000	0.46254	GTC		0.552	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			46	475	0	0	0	0.01441	0	46	475				
DSC1	1823	broad.mit.edu	37	18	28712647	28712647	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:28712647G>A	ENST00000257198.5	-	14	2383	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Silent_p.L708L	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	708					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.L708L(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)			CATGTAAACAGAATACCTAAA	0.303																																							uc002kwn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(2122-2124)CTG>TTG		desmocollin 1 isoform Dsc1a preproprotein							64.0	60.0	62.0					18																	28712647		2202	4299	6501	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712647G>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.2122C>T	18.37:g.28712647G>A						DSC1_uc002kwm.2_Silent_p.L708L	p.L708L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2384	-			708			Helical; (Potential).		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2122C>T	CCDS11894.1																																																																																				0.303	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		6	28	0	0	0	0.001168	0	6	28				
MOCOS	55034	broad.mit.edu	37	18	33775270	33775270	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:33775270C>T	ENST00000261326.5	+	2	214	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.L65F(1)		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						CCAGAGCCAGCTCGAAAGCTT	0.393																																							uc002kzq.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(193-195)CTC>TTC		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						137.0	140.0	139.0					18																	33775270		2203	4300	6503	SO:0001583	missense	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.chr18:33775270C>T	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.193C>T	18.37:g.33775270C>T	ENSP00000261326:p.Leu65Phe						p.L65F	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			2	216	+			65						Missense_Mutation	SNP	ENST00000261326.5	37	c.193C>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389104	0.61956	.	.	ENSG00000075643	ENST00000261326	D	0.89343	-2.5	5.41	4.54	0.55810	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.153224	0.43579	D	0.000548	D	0.88518	0.6458	M	0.62723	1.935	0.37180	D	0.903475	P	0.46142	0.873	P	0.45712	0.491	D	0.90431	0.4424	10	0.66056	D	0.02	-15.953	11.5288	0.50595	0.1792:0.8208:0.0:0.0	.	65	Q96EN8	MOCOS_HUMAN	F	65	ENSP00000261326:L65F	ENSP00000261326:L65F	L	+	1	0	MOCOS	32029268	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	1.496000	0.35638	1.268000	0.44264	0.563000	0.77884	CTC		0.393	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			13	118	0	0	0	0.003163	0	13	118				
RNF152	220441	broad.mit.edu	37	18	59483267	59483267	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:59483267C>T	ENST00000312828.3	-	2	1529	c.430G>A	c.(430-432)Ggt>Agt	p.G144S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	144					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G144S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGAGCCCCACCTTGCAGAGGC	0.672																																							uc002lih.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(430-432)GGT>AGT		ring finger protein 152							60.0	60.0	60.0					18																	59483267		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483267C>T	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.430G>A	18.37:g.59483267C>T	ENSP00000316628:p.Gly144Ser						p.G144S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			2	842	-		Colorectal(73;0.186)	144					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.430G>A	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947632	0.34377	.	.	ENSG00000176641	ENST00000312828	D	0.82619	-1.63	4.69	4.69	0.59074	.	0.407307	0.24102	N	0.041531	T	0.72104	0.3419	N	0.19112	0.55	0.32331	N	0.561114	P	0.37997	0.614	B	0.39119	0.291	T	0.70226	-0.4930	10	0.07030	T	0.85	-10.0391	17.8094	0.88611	0.0:1.0:0.0:0.0	.	144	Q8N8N0	RN152_HUMAN	S	144	ENSP00000316628:G144S	ENSP00000316628:G144S	G	-	1	0	RNF152	57634247	0.052000	0.20516	0.114000	0.21550	0.218000	0.24690	3.020000	0.49643	2.461000	0.83175	0.563000	0.77884	GGT		0.672	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		4	61	0	0	0	0.009096	0	4	61				
MUC16	94025	broad.mit.edu	37	19	9057667	9057667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:9057667G>A	ENST00000397910.4	-	3	29982	c.29779C>T	c.(29779-29781)Cag>Tag	p.Q9927*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9929	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)		p.Q9927*(1)|p.Q5560*(1)		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						ATCGTGGACTGATCAGAGTCA	0.448																																							uc002mkp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29779-29781)CAG>TAG		mucin 16							235.0	226.0	229.0					19																	9057667		2007	4172	6179	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057667G>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.29779C>T	19.37:g.9057667G>A	ENSP00000381008:p.Gln9927*						p.Q9927*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29983	-			9929			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.29779C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	45.873351	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.5	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7594	0.08598	0.31:0.0:0.69:0.0	.	.	.	.	X	9927	.	ENSP00000381008:Q9927X	Q	-	1	0	MUC16	8918667	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.250000	0.18235	0.421000	0.25980	0.460000	0.39030	CAG		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	287	0	0	0	0.010504	0	10	287				
ZNF99	7652	broad.mit.edu	37	19	22941400	22941400	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:22941400G>A	ENST00000596209.1	-	4	1401	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF99_ENST00000397104.3_Silent_p.F346F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	437					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.F346F(1)		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)				TAAGGGCTGAGAAACGCTTAA	0.368																																							uc010xrh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1036-1038)TTC>TTT		zinc finger protein 99							57.0	59.0	58.0					19																	22941400		2033	4218	6251	SO:0001819	synonymous_variant	7652							g.chr19:22941400G>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.1311C>T	19.37:g.22941400G>A							p.F346F	NM_001080409	NP_001073878					5	1038	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1038C>T	CCDS59369.1																																																																																				0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	46	0	0	0	0.001168	0	6	46				
ZNF536	9745	broad.mit.edu	37	19	30936293	30936293	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:30936293G>A	ENST00000355537.3	+	2	1971	c.1824G>A	c.(1822-1824)ttG>ttA	p.L608L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	608					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.L608L(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)					GGGATTTTTTGTCACACGGGC	0.552																																							uc002nsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1822-1824)TTG>TTA		zinc finger protein 536							94.0	102.0	99.0					19																	30936293		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936293G>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.1824G>A	19.37:g.30936293G>A						ZNF536_uc010edd.1_Silent_p.L608L	p.L608L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1962	+	Esophageal squamous(110;0.0834)		608					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1824G>A	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		22	166	0	0	0	0.010504	0	22	166				
ALKBH6	84964	broad.mit.edu	37	19	36501474	36501474	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:36501474C>T	ENST00000252984.7	-	7	600	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000378875.3_Missense_Mutation_p.E178K|SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000486389.1_3'UTR|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_3'UTR			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	150	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)	p.E178K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGTTCTGTAGGGTCA	0.622																																							uc002oct.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GAA>AAA		alkB, alkylation repair homolog 6 isoform 2							73.0	81.0	79.0					19																	36501474		2103	4216	6319	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501474C>T	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.448G>A	19.37:g.36501474C>T	ENSP00000252984:p.Glu150Lys					C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Missense_Mutation_p.E178K|ALKBH6_uc002ocx.1_Missense_Mutation_p.E81K|ALKBH6_uc002ocw.1_3'UTR|ALKBH6_uc010eeo.1_Missense_Mutation_p.E150K|ALKBH6_uc010eep.1_3'UTR	p.E150K	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	548	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		150			Fe2OG dioxygenase.		A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319185	0.60524	.	.	ENSG00000239382	ENST00000378875;ENST00000252984;ENST00000433672;ENST00000495116	.	.	.	5.09	4.05	0.47172	Oxoglutarate/iron-dependent oxygenase (2);	.	.	.	.	T	0.30572	0.0769	N	0.13098	0.295	0.45914	D	0.998753	B;B	0.21225	0.053;0.001	B;B	0.15484	0.013;0.006	T	0.07121	-1.0789	8	0.11485	T	0.65	.	9.7041	0.40205	0.0:0.9031:0.0:0.0969	.	178;150	Q3KRA9-2;Q3KRA9	.;ALKB6_HUMAN	K	178;150;150;42	.	ENSP00000252984:E150K	E	-	1	0	ALKBH6	41193314	0.999000	0.42202	0.961000	0.40146	0.122000	0.20287	2.715000	0.47210	1.281000	0.44480	0.591000	0.81541	GAA		0.622	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		8	124	0	0	0	0.008291	0	8	124				
ZNF227	7770	broad.mit.edu	37	19	44740468	44740468	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:44740468G>C	ENST00000313040.7	+	6	2090	c.1885G>C	c.(1885-1887)Gag>Cag	p.E629Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.E578Q|ZNF227_ENST00000589005.1_Missense_Mutation_p.E578Q|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	629					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.E629Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCATACTGGAGAGAAGCCATA	0.463																																							uc002oyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1885-1887)GAG>CAG		zinc finger protein 227							65.0	66.0	66.0					19																	44740468		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740468G>C	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.1885G>C	19.37:g.44740468G>C	ENSP00000321049:p.Glu629Gln					ZNF227_uc010xwu.1_Missense_Mutation_p.E578Q|ZNF227_uc002oyv.2_Missense_Mutation_p.E629Q|ZNF227_uc010xwv.1_Missense_Mutation_p.E578Q|ZNF227_uc010xww.1_Missense_Mutation_p.E550Q|ZNF227_uc002oyw.2_Missense_Mutation_p.E601Q|ZNF227_uc010ejh.2_Missense_Mutation_p.E622Q|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	p.E629Q	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	2090	+		Prostate(69;0.0435)	629					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1885G>C	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295875	0.81025	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.25912	1.77;1.77	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.39326	1.205	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.991;1.0	D;D;P;D	0.79784	0.989;0.993;0.869;0.989	T	0.41502	-0.9505	9	0.87932	D	0	.	15.9438	0.79779	0.0:0.0:1.0:0.0	.	550;608;581;629	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Q	629;586;578;608;268	ENSP00000321049:E629Q;ENSP00000375823:E578Q	ENSP00000321049:E629Q	E	+	1	0	ZNF227	49432308	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.369000	0.44231	2.115000	0.64714	0.557000	0.71058	GAG		0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		4	63	0	0	0	0.009096	0	4	63				
NLRP13	126204	broad.mit.edu	37	19	56424091	56424091	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:56424091C>G	ENST00000342929.3	-	5	1091	c.1092G>C	c.(1090-1092)aaG>aaC	p.K364N	NLRP13_ENST00000588751.1_Missense_Mutation_p.K364N	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	364	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.K364N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAACCAGGTCTTGATCGTGA	0.458																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1090-1092)AAG>AAC		NACHT, leucine rich repeat and PYD containing							120.0	113.0	115.0					19																	56424091		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424091C>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.1092G>C	19.37:g.56424091C>G	ENSP00000343891:p.Lys364Asn						p.K364N	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1117	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	364			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1092G>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160658	0.38119	.	.	ENSG00000173572	ENST00000342929	T	0.79033	-1.23	2.81	1.73	0.24493	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.70228	0.3200	L	0.38175	1.15	0.09310	N	1	P	0.49961	0.93	P	0.46850	0.529	T	0.60372	-0.7276	9	0.72032	D	0.01	.	6.3741	0.21497	0.0:0.8435:0.0:0.1565	.	364	Q86W25	NAL13_HUMAN	N	364	ENSP00000343891:K364N	ENSP00000343891:K364N	K	-	3	2	NLRP13	61115903	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.549000	0.02182	0.490000	0.27771	0.591000	0.81541	AAG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		22	153	0	0	0	0.014323	0	22	153				
SDC1	6382	broad.mit.edu	37	2	20403660	20403660	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:20403660C>G	ENST00000254351.4	-	3	785	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.E181Q|SDC1_ENST00000403076.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	181					canonical Wnt signaling pathway (GO:0060070)|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)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.E181Q(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCTCCATCCTCTGTGTGGGGA	0.657																																							uc002rdo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(541-543)GAG>CAG		syndecan 1 precursor							92.0	89.0	90.0					2																	20403660		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20403660C>G	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.541G>C	2.37:g.20403660C>G	ENSP00000254351:p.Glu181Gln					SDC1_uc002rdp.1_Missense_Mutation_p.E181Q|SDC1_uc010exv.2_Intron	p.E181Q	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	840	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		181			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.541G>C	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389212	0.42410	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000429035	T;T;T	0.38560	2.09;2.09;1.13	3.87	2.97	0.34412	.	0.229569	0.29964	N	0.010756	T	0.35828	0.0945	L	0.60455	1.87	0.09310	N	0.999991	B	0.31769	0.339	B	0.27076	0.076	T	0.38067	-0.9678	10	0.87932	D	0	-14.4302	9.2587	0.37599	0.0:0.7484:0.2516:0.0	.	181	P18827	SDC1_HUMAN	Q	181;181;189	ENSP00000254351:E181Q;ENSP00000370542:E181Q;ENSP00000400773:E189Q	ENSP00000254351:E181Q	E	-	1	0	SDC1	20267141	0.005000	0.15991	0.191000	0.23289	0.013000	0.08279	0.956000	0.29202	1.182000	0.42928	0.561000	0.74099	GAG		0.657	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		25	104	0	0	0	0.008361	0	25	104				
ABHD1	84696	broad.mit.edu	37	2	27352658	27352658	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:27352658G>C	ENST00000316470.4	+	6	768	c.654G>C	c.(652-654)caG>caC	p.Q218H		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	218						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.Q218H(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCAGGCAGGCTGCAGGGC	0.542																																							uc002rit.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(652-654)CAG>CAC		abhydrolase domain-containing protein 1							76.0	79.0	78.0					2																	27352658		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27352658G>C	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.654G>C	2.37:g.27352658G>C	ENSP00000326491:p.Gln218His					ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	p.Q218H	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN			6	814	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		218					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.654G>C	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417794	0.25552	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.71341	-0.56;2.86	4.87	1.85	0.25348	.	0.931448	0.09028	N	0.859140	T	0.63307	0.2500	L	0.27053	0.805	0.09310	N	1	P	0.41450	0.75	P	0.50314	0.637	T	0.54906	-0.8223	10	0.54805	T	0.06	-6.1013	1.6648	0.02799	0.1793:0.1508:0.4962:0.1737	.	218	Q96SE0	ABHD1_HUMAN	H	218;155	ENSP00000326491:Q218H;ENSP00000397522:Q155H	ENSP00000326491:Q218H	Q	+	3	2	ABHD1	27206162	0.001000	0.12720	0.040000	0.18447	0.551000	0.35334	-0.029000	0.12329	0.670000	0.31165	0.655000	0.94253	CAG		0.542	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		23	104	0	0	0	0.007291	0	23	104				
SNRNP200	23020	broad.mit.edu	37	2	96956196	96956196	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:96956196G>A	ENST00000323853.5	-	20	2687	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	870	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	p.I870I(1)		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						CATGAGATGTGATGAGTATGC	0.483																																							uc002svu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(2608-2610)ATC>ATT		activating signal cointegrator 1 complex subunit							134.0	126.0	129.0					2																	96956196		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96956196G>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.2610C>T	2.37:g.96956196G>A						SNRNP200_uc002svw.1_5'Flank	p.I870I	NM_014014	NP_054733	O75643	U520_HUMAN			20	2696	-			870			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.2610C>T	CCDS2020.1																																																																																				0.483	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		14	173	0	0	0	0.003163	0	14	173				
SNRNP200	23020	broad.mit.edu	37	2	96956427	96956427	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:96956427G>A	ENST00000323853.5	-	19	2625	c.2548C>T	c.(2548-2550)Ctg>Ttg	p.L850L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	850	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	p.L850L(1)		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						TGTACCTGCAGAATGTCCAGT	0.502																																							uc002svu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(2548-2550)CTG>TTG		activating signal cointegrator 1 complex subunit							167.0	166.0	166.0					2																	96956427		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96956427G>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.2548C>T	2.37:g.96956427G>A						SNRNP200_uc002svw.1_5'Flank	p.L850L	NM_014014	NP_054733	O75643	U520_HUMAN			19	2634	-			850			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.2548C>T	CCDS2020.1																																																																																				0.502	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		27	346	0	0	0	0.005443	0	27	346				
TMEM177	80775	broad.mit.edu	37	2	120439041	120439041	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:120439041C>T	ENST00000424086.1	+	2	1085	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TMEM177_ENST00000401466.1_Silent_p.F204F|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.F204F|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	204						integral component of membrane (GO:0016021)		p.F204F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGGCTGCCTTCAGCTTGGTGG	0.657																																							uc010flg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(610-612)TTC>TTT		transmembrane protein 177							57.0	58.0	57.0					2																	120439041		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120439041C>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.612C>T	2.37:g.120439041C>T						TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.F204F|TMEM177_uc002tmd.2_Silent_p.F204F|TMEM177_uc010flh.2_Intron	p.F204F	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	1085	+	Colorectal(110;0.196)		204			Helical; (Potential).		Q9BT20	Silent	SNP	ENST00000424086.1	37	c.612C>T	CCDS2128.1																																																																																				0.657	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		4	64	0	0	0	0.001168	0	4	64				
KYNU	8942	broad.mit.edu	37	2	143642955	143642955	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:143642955G>C	ENST00000410015.2	+	2	109	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	KYNU_ENST00000264170.4_Missense_Mutation_p.E7Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E7Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E7Q					kynureninase									p.E7Q(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTCATCTCTTGAGCTGCCGGC	0.453																																							uc002tvl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(19-21)GAG>CAG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						49.0	51.0	50.0					2																	143642955		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143642955G>C	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.19G>C	2.37:g.143642955G>C	ENSP00000387296:p.Glu7Gln					KYNU_uc002tvk.2_Missense_Mutation_p.E7Q|KYNU_uc010fnm.2_Missense_Mutation_p.E7Q	p.E7Q	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	2	149	+			7						Missense_Mutation	SNP	ENST00000410015.2	37	c.19G>C		.	.	.	.	.	.	.	.	.	.	G	14.90	2.672776	0.47781	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.64438	0.47;-0.1;0.47	5.13	5.13	0.70059	.	0.517267	0.20831	N	0.084884	T	0.50599	0.1625	L	0.36672	1.1	0.30800	N	0.739994	B;B	0.32507	0.373;0.373	B;B	0.27500	0.031;0.08	T	0.50625	-0.8806	10	0.17832	T	0.49	.	16.9396	0.86213	0.0:0.0:1.0:0.0	.	7;7	Q16719;Q9BVW3	KYNU_HUMAN;.	Q	7	ENSP00000264170:E7Q;ENSP00000364928:E7Q;ENSP00000386731:E7Q	ENSP00000264170:E7Q	E	+	1	0	KYNU	143359425	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	5.700000	0.68318	2.660000	0.90430	0.557000	0.71058	GAG		0.453	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		7	47	0	0	0	0.00308	0	7	47				
SCRN3	79634	broad.mit.edu	37	2	175268854	175268854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:175268854C>T	ENST00000272732.6	+	5	647	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	SCRN3_ENST00000409673.3_Nonsense_Mutation_p.Q182*	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	189							dipeptidase activity (GO:0016805)	p.Q182*(1)|p.Q189*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATTTCTAATCAACTTTCCAT	0.368																																							uc002uiq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(565-567)CAA>TAA		secernin 3							68.0	64.0	66.0					2																	175268854		2203	4300	6503	SO:0001587	stop_gained	79634				proteolysis		dipeptidase activity	g.chr2:175268854C>T	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.565C>T	2.37:g.175268854C>T	ENSP00000272732:p.Gln189*					SCRN3_uc010zen.1_Nonsense_Mutation_p.Q182*|SCRN3_uc010zeo.1_5'UTR	p.Q189*	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		5	653	+			189					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Nonsense_Mutation	SNP	ENST00000272732.6	37	c.565C>T	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209687	0.79240	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000548031	.	.	.	5.42	5.42	0.78866	.	0.111626	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-8.7884	14.1081	0.65104	0.1504:0.8496:0.0:0.0	.	.	.	.	X	189;182;189;189	.	ENSP00000272732:Q189X	Q	+	1	0	SCRN3	174977100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.795000	0.55499	2.521000	0.84997	0.563000	0.77884	CAA		0.368	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		3	48	0	0	0	0.009096	0	3	48				
TMEFF2	23671	broad.mit.edu	37	2	193059202	193059202	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:193059202C>T	ENST00000272771.5	-	1	1233	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.E17K|TMEFF2_ENST00000409056.3_Missense_Mutation_p.E17K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	17						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E17K(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CAAAAGCCCTCGCAAAGTGTC	0.592																																					Pancreas(50;1277 1381 28487 47072)	Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(49-51)GAG>AAG		transmembrane protein with EGF-like and two							34.0	39.0	38.0					2																	193059202		2202	4294	6496	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:193059202C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.49G>A	2.37:g.193059202C>T	ENSP00000272771:p.Glu17Lys					TMEFF2_uc002utd.1_Missense_Mutation_p.E17K	p.E17K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	443	-			17					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.49G>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533569	0.64972	.	.	ENSG00000144339	ENST00000392314;ENST00000272771;ENST00000409056	T;T;T	0.68765	0.29;0.29;-0.35	5.39	4.46	0.54185	.	0.439433	0.21908	N	0.067352	T	0.42765	0.1217	N	0.14661	0.345	0.29449	N	0.858598	B;B	0.30482	0.281;0.082	B;B	0.22880	0.042;0.003	T	0.31110	-0.9955	10	0.23891	T	0.37	-14.3507	8.2141	0.31501	0.0:0.7552:0.1602:0.0846	.	17;17	Q9UIK5-3;Q9UIK5	.;TEFF2_HUMAN	K	17	ENSP00000376128:E17K;ENSP00000272771:E17K;ENSP00000386871:E17K	ENSP00000272771:E17K	E	-	1	0	TMEFF2	192767447	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.076000	0.41548	2.523000	0.85059	0.462000	0.41574	GAG		0.592	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		6	42	0	0	0	0.008291	0	6	42				
HECW2	57520	broad.mit.edu	37	2	197106927	197106927	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:197106927A>G	ENST00000260983.3	-	20	3713	c.3531T>C	c.(3529-3531)ggT>ggC	p.G1177G	HECW2_ENST00000409111.1_Splice_Site_p.G821G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1177					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)	p.G1177G(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACGCTGGGTACCTGCAGCAA	0.473																																							uc002utm.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3529-3531)GGT>GGC		HECT, C2 and WW domain containing E3 ubiquitin							91.0	91.0	91.0					2																	197106927		2203	4300	6503	SO:0001630	splice_region_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197106927A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3530-1T>C	2.37:g.197106927A>G						HECW2_uc002utl.1_Silent_p.G821G	p.G1177G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			20	3714	-			1177					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.3531T>C	CCDS33354.1																																																																																				0.473	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Silent	27	119	0	0	0	0.007291	0	27	119				
CCDC150	284992	broad.mit.edu	37	2	197531497	197531497	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:197531497C>G	ENST00000389175.4	+	7	952	c.817C>G	c.(817-819)Caa>Gaa	p.Q273E	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	273								p.Q273E(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACAGAGCGCTCAAGAACTACT	0.358																																							uc002utp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)CAA>GAA		coiled-coil domain containing 150							51.0	49.0	50.0					2																	197531497		1818	4076	5894	SO:0001583	missense	284992							g.chr2:197531497C>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.817C>G	2.37:g.197531497C>G	ENSP00000373827:p.Gln273Glu					CCDC150_uc002uto.1_Missense_Mutation_p.Q273E|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.Q273E	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			7	952	+			273			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.817C>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735177	0.30774	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.29142	1.58	5.53	5.53	0.82687	.	0.159141	0.40554	N	0.001070	T	0.39332	0.1074	L	0.57536	1.79	0.80722	D	1	D;D	0.58620	0.971;0.983	P;P	0.57720	0.761;0.826	T	0.23976	-1.0173	10	0.02654	T	1	-10.4608	11.8271	0.52273	0.1744:0.8256:0.0:0.0	.	273;273	Q8NCX0;F5H6M2	CC150_HUMAN;.	E	273	ENSP00000373827:Q273E	ENSP00000373827:Q273E	Q	+	1	0	CCDC150	197239742	0.978000	0.34361	0.881000	0.34555	0.403000	0.30841	2.577000	0.46042	2.882000	0.98803	0.655000	0.94253	CAA		0.358	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		6	21	0	0	0	0.001984	0	6	21				
ABCA12	26154	broad.mit.edu	37	2	215851396	215851396	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:215851396C>T	ENST00000272895.7	-	28	4252	c.4033G>A	c.(4033-4035)Ggg>Agg	p.G1345R	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1027R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1345					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.G1345R(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGGCAACCCCGACTGTGAGA	0.433																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(4033-4035)GGG>AGG		ATP-binding cassette, sub-family A, member 12							86.0	83.0	84.0					2																	215851396		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215851396C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4033G>A	2.37:g.215851396C>T	ENSP00000272895:p.Gly1345Arg					ABCA12_uc002vev.2_Missense_Mutation_p.G1027R|ABCA12_uc010zjn.1_Missense_Mutation_p.G272R	p.G1345R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	28	4253	-		Renal(323;0.127)	1345					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4033G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111121	0.94339	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93133	-3.17;-3.17	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	D	0.96932	0.8998	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97166	0.9841	10	0.87932	D	0	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1345;1027	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1345;1027	ENSP00000272895:G1345R;ENSP00000374312:G1027R	ENSP00000272895:G1345R	G	-	1	0	ABCA12	215559641	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	7.729000	0.84864	2.640000	0.89533	0.563000	0.77884	GGG		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	72	0	0	0	0.009096	0	4	72				
DNAJB2	3300	broad.mit.edu	37	2	220147600	220147600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:220147600C>T	ENST00000336576.5	+	6	682	c.394C>T	c.(394-396)Cga>Tga	p.R132*	DNAJB2_ENST00000392086.4_Nonsense_Mutation_p.R132*|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	132					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.R132*(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGGTTCCCGACACTCAGG	0.537																																							uc002vkx.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(394-396)CGA>TGA		DnaJ (Hsp40) homolog, subfamily B, member 2							124.0	121.0	122.0					2																	220147600		2203	4300	6503	SO:0001587	stop_gained	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220147600C>T		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.394C>T	2.37:g.220147600C>T	ENSP00000338019:p.Arg132*					DNAJB2_uc002vkw.1_Nonsense_Mutation_p.R132*|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	p.R132*	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	631	+		Renal(207;0.0474)	132					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Nonsense_Mutation	SNP	ENST00000336576.5	37	c.394C>T	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698843	0.88830	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000439026	.	.	.	5.37	3.44	0.39384	.	0.811357	0.10326	N	0.688103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5176	0.61549	0.0:0.7016:0.2984:0.0	.	.	.	.	X	132	.	ENSP00000338019:R132X	R	+	1	2	DNAJB2	219855844	0.709000	0.27886	0.108000	0.21378	0.595000	0.36748	2.077000	0.41557	1.236000	0.43740	-0.300000	0.09419	CGA		0.537	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			14	158	0	0	0	0.003163	0	14	158				
PER2	8864	broad.mit.edu	37	2	239170885	239170885	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:239170885G>A	ENST00000254657.3	-	11	1533	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	PER2_ENST00000440245.1_Silent_p.I418I|PER2_ENST00000355768.2_Nonsense_Mutation_p.Q383*|PER2_ENST00000254658.3_Nonsense_Mutation_p.Q383*	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	418	PAC.				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)	p.I418I(1)		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)		TCCATGGGTTGATGAAGCTGG	0.592																																							uc002vyc.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(1252-1254)ATC>ATT		period 2							133.0	120.0	124.0					2																	239170885		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.chr2:239170885G>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.1254C>T	2.37:g.239170885G>A						PER2_uc010znv.1_Silent_p.I418I|PER2_uc010znw.1_Silent_p.I418I|PER2_uc010fyx.1_Nonsense_Mutation_p.Q383*	p.I418I	NM_022817	NP_073728	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)	11	1491	-		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)	418			PAC.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.1254C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604486	0.96626	.	.	ENSG00000132326	ENST00000254658;ENST00000355768	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.0984	9.1392	0.36892	0.1006:0.0:0.8994:0.0	.	.	.	.	X	383	.	ENSP00000254658:Q383X	Q	-	1	0	PER2	238835624	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.017000	0.40981	2.301000	0.77427	0.555000	0.69702	CAA		0.592	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	94	0	0	0	0.000602	0	5	94				
NCOA6	23054	broad.mit.edu	37	20	33338106	33338106	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:33338106G>A	ENST00000374796.2	-	10	4462	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S631F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	631	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S631F(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGCCCTGGGAGGGCACGAT	0.572																																							uc002xav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1891-1893)TCC>TTC		nuclear receptor coactivator 6							108.0	96.0	100.0					20																	33338106		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33338106G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1892C>T	20.37:g.33338106G>A	ENSP00000363929:p.Ser631Phe					NCOA6_uc002xaw.2_Missense_Mutation_p.S631F	p.S631F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	4463	-			631			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1892C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217349	0.58560	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.35605	1.3;1.3	6.17	5.23	0.72850	.	0.080192	0.53938	D	0.000053	T	0.36744	0.0978	N	0.24115	0.695	0.53688	D	0.999978	P	0.38223	0.623	P	0.46718	0.525	T	0.19778	-1.0295	10	0.44086	T	0.13	-3.8281	15.8705	0.79117	0.0646:0.0:0.9354:0.0	.	631	Q14686	NCOA6_HUMAN	F	631	ENSP00000363929:S631F;ENSP00000351894:S631F	ENSP00000351894:S631F	S	-	2	0	NCOA6	32801767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.229000	0.95273	1.631000	0.50456	0.655000	0.94253	TCC		0.572	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	132	0	0	0	0.000602	0	4	132				
EDEM2	55741	broad.mit.edu	37	20	33722746	33722746	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:33722746T>A	ENST00000374492.3	-	6	602	c.497A>T	c.(496-498)cAg>cTg	p.Q166L	EDEM2_ENST00000374491.3_Missense_Mutation_p.Q129L|EDEM2_ENST00000540582.1_Missense_Mutation_p.Q125L|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	166					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)	p.Q166L(1)		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)			AGTGGGGGTCTGAAAGGCTGA	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CAG>CTG		ER degradation enhancer, mannosidase alpha-like							71.0	64.0	66.0					20																	33722746		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.chr20:33722746T>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.497A>T	20.37:g.33722746T>A	ENSP00000363616:p.Gln166Leu					EDEM2_uc010zuv.1_Missense_Mutation_p.Q125L|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.Q129L|EDEM2_uc010zut.1_Missense_Mutation_p.Q125L|EDEM2_uc002xbp.2_Missense_Mutation_p.Q14L|EDEM2_uc002xbn.2_Missense_Mutation_p.Q14L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	p.Q166L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		6	597	-			166					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.497A>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046865	0.75846	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.42131	0.98;0.98;0.98	5.87	5.87	0.94306	.	0.097854	0.64402	D	0.000001	T	0.40015	0.1100	L	0.35644	1.08	0.80722	D	1	B;B;B	0.29646	0.027;0.213;0.253	B;B;B	0.33960	0.044;0.108;0.173	T	0.30707	-0.9969	10	0.66056	D	0.02	-16.8733	16.5764	0.84681	0.0:0.0:0.0:1.0	.	125;129;166	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	L	129;166;125	ENSP00000363615:Q129L;ENSP00000363616:Q166L;ENSP00000441548:Q125L	ENSP00000363615:Q129L	Q	-	2	0	EDEM2	33186407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.371000	0.80710	0.533000	0.62120	CAG		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		14	46	0	0	0	0.00245	0	14	46				
PLCG1	5335	broad.mit.edu	37	20	39795229	39795229	+	Missense_Mutation	SNP	C	C	G	rs35351109		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:39795229C>G	ENST00000373271.1	+	18	2519	c.2114C>G	c.(2113-2115)tCt>tGt	p.S705C	PLCG1_ENST00000373272.2_Missense_Mutation_p.S705C|PLCG1_ENST00000244007.3_Missense_Mutation_p.S705C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	705	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.S705C(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TATGCCATCTCTTTCCGGTGA	0.592																																							uc002xjp.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(2113-2115)TCT>TGT		phospholipase C, gamma 1 isoform b							112.0	101.0	105.0					20																	39795229		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39795229C>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2114C>G	20.37:g.39795229C>G	ENSP00000362368:p.Ser705Cys					PLCG1_uc002xjo.1_Missense_Mutation_p.S705C|PLCG1_uc010zwe.1_Missense_Mutation_p.S331C|PLCG1_uc010ggf.2_Missense_Mutation_p.S55C	p.S705C	NM_182811	NP_877963	P19174	PLCG1_HUMAN			18	2235	+		Myeloproliferative disorder(115;0.00878)	705			SH2 2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2114C>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934183	0.92458	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.95724	-3.79;-3.79;-3.79	5.7	5.7	0.88788	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.998;0.996	D	0.97990	1.0354	10	0.87932	D	0	.	20.1982	0.98246	0.0:1.0:0.0:0.0	.	705;281;705;705	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	C	705	ENSP00000244007:S705C;ENSP00000362368:S705C;ENSP00000362369:S705C	ENSP00000244007:S705C	S	+	2	0	PLCG1	39228643	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.032000	0.70918	2.848000	0.98002	0.655000	0.94253	TCT		0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		7	131	0	0	0	0.001984	0	7	131				
TRMT2A	27037	broad.mit.edu	37	22	20102949	20102949	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:20102949C>G	ENST00000252136.7	-	4	1118	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E244Q|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E244Q|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E244Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	244					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.E244Q(1)		breast(2)|endometrium(2)|lung(5)	9						ACCAGAAACTCACACTTATTA	0.607																																							uc002zrk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(730-732)GAG>CAG		HpaII tiny fragments locus 9C							68.0	62.0	64.0					22																	20102949		2202	4300	6502	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20102949C>G	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.730G>C	22.37:g.20102949C>G	ENSP00000252136:p.Glu244Gln					TRMT2A_uc002zrl.1_Missense_Mutation_p.E244Q|TRMT2A_uc002zrm.1_Missense_Mutation_p.E66Q|TRMT2A_uc002zrn.1_Missense_Mutation_p.E244Q|TRMT2A_uc011ahk.1_3'UTR|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.E244Q	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			5	945	-			244					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.730G>C	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814769	0.96982	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.56776	0.45;0.45;0.44	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	M	0.82323	2.585	0.80722	D	1	P;P;P	0.50943	0.866;0.532;0.94	P;B;P	0.52031	0.688;0.321;0.688	T	0.65713	-0.6101	10	0.20519	T	0.43	-32.3914	19.0103	0.92870	0.0:1.0:0.0:0.0	.	244;244;244	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	Q	244	ENSP00000252136:E244Q;ENSP00000385807:E244Q;ENSP00000395738:E244Q	ENSP00000252136:E244Q	E	-	1	0	TRMT2A	18482949	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.370000	0.79589	2.595000	0.87683	0.561000	0.74099	GAG		0.607	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		4	134	0	0	0	0.009096	0	4	134				
MCM5	4174	broad.mit.edu	37	22	35802587	35802587	+	Silent	SNP	C	C	T	rs571490966	byFrequency	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:35802587C>T	ENST00000216122.4	+	5	619	c.465C>T	c.(463-465)atC>atT	p.I155I	MCM5_ENST00000382011.5_Silent_p.I112I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	155					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.I155I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGCATCATCATCGCGGCCT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		19142	0.002		0.0	False		,,,				2504	0.0						uc003anu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(463-465)ATC>ATT		minichromosome maintenance complex component 5							88.0	67.0	74.0					22																	35802587		2203	4300	6503	SO:0001819	synonymous_variant	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35802587C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.465C>T	22.37:g.35802587C>T						MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Silent_p.I112I|MCM5_uc010gws.1_5'Flank	p.I155I	NM_006739	NP_006730	P33992	MCM5_HUMAN			5	559	+			155					O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	c.465C>T	CCDS13915.1																																																																																				0.592	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	66	0	0	0	0.001168	0	5	66				
MYH9	4627	broad.mit.edu	37	22	36737460	36737460	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:36737460G>C	ENST00000216181.5	-	3	675	c.445C>G	c.(445-447)Cac>Gac	p.H149D	MYH9_ENST00000401701.1_Missense_Mutation_p.H149D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	149	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)	p.H149D(1)		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						GCATAGATGTGAGGGGGCATC	0.522			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																														uc003apg.2		NA		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		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(445-447)CAC>GAC		myosin, heavy polypeptide 9, non-muscle							196.0	151.0	166.0					22																	36737460		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.chr22:36737460G>C		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.445C>G	22.37:g.36737460G>C	ENSP00000216181:p.His149Asp					MYH9_uc003aph.1_Missense_Mutation_p.H13D|MYH9_uc003api.1_Missense_Mutation_p.H149D	p.H149D	NM_002473	NP_002464	P35579	MYH9_HUMAN			3	676	-			149			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.445C>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716313	0.89205	.	.	ENSG00000100345	ENST00000337818;ENST00000216181;ENST00000401701	D;D	0.96334	-3.98;-3.98	5.04	5.04	0.67666	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.99464	4.58	0.80722	D	1	D;P	0.89917	1.0;0.812	D;D	0.97110	1.0;0.929	D	0.98789	1.0735	10	0.87932	D	0	.	18.774	0.91902	0.0:0.0:1.0:0.0	.	149;149	Q5BKV1;P35579	.;MYH9_HUMAN	D	13;149;149	ENSP00000216181:H149D;ENSP00000384631:H149D	ENSP00000216181:H149D	H	-	1	0	MYH9	35067406	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.869000	0.99810	2.507000	0.84556	0.561000	0.74099	CAC		0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	162	0	0	0	0.010729	0	10	162				
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Silent	SNP	A	A	T	rs550402193		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:43870650A>T	ENST00000417669.2	+	4	885	c.441A>T	c.(439-441)gcA>gcT	p.A147A	MPPED1_ENST00000439548.1_De_novo_Start_OutOfFrame|MPPED1_ENST00000538182.1_Silent_p.A180A|MPPED1_ENST00000542779.1_Silent_p.A147A|MPPED1_ENST00000443721.1_Silent_p.A147A|MPPED1_ENST00000414469.2_Silent_p.A41A			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity (GO:0016787)	p.A147A(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562																																							uc011apv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)GCA>GCT		metallophosphoesterase domain containing 1							132.0	135.0	134.0					22																	43870650		2118	4243	6361	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870650A>T	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.441A>T	22.37:g.43870650A>T						MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A	p.A147A	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			4	664	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	147					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.441A>T	CCDS46723.1																																																																																				0.562	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		4	143	0	0	0	0.009096	0	4	143				
TBC1D22A	25771	broad.mit.edu	37	22	47274580	47274580	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:47274580C>G	ENST00000337137.4	+	5	835	c.669C>G	c.(667-669)atC>atG	p.I223M	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I176M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I164M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I145M|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I176M	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	223	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.I223M(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTCCGGAATCCCTAAGCCAG	0.522																																							uc003bib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)ATC>ATG		TBC1 domain family, member 22A							128.0	123.0	125.0					22																	47274580		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47274580C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.669C>G	22.37:g.47274580C>G	ENSP00000336724:p.Ile223Met					TBC1D22A_uc010haf.2_Missense_Mutation_p.I193M|TBC1D22A_uc003bic.2_Missense_Mutation_p.I164M|TBC1D22A_uc003bie.2_Missense_Mutation_p.I145M|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I176M	p.I223M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	5	804	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	223			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.669C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808176	0.50421	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.17	2.69	0.31865	Rab-GAP/TBC domain (3);	0.156961	0.56097	D	0.000028	T	0.33933	0.0880	M	0.94142	3.5	0.36358	D	0.860483	P;D;D;P	0.67145	0.905;0.984;0.996;0.905	P;D;D;P	0.74023	0.886;0.982;0.979;0.886	T	0.50717	-0.8795	10	0.87932	D	0	-2.5953	8.2614	0.31788	0.0:0.7851:0.0:0.2149	.	223;145;164;223	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	M	223;176;164;145;176	ENSP00000336724:I223M;ENSP00000370383:I176M;ENSP00000384036:I164M;ENSP00000347932:I145M;ENSP00000385634:I176M	ENSP00000336724:I223M	I	+	3	3	TBC1D22A	45653244	1.000000	0.71417	0.995000	0.50966	0.705000	0.40729	0.525000	0.22956	1.188000	0.43014	0.585000	0.79938	ATC		0.522	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		6	152	0	0	0	0.00308	0	6	152				
DLEC1	9940	broad.mit.edu	37	3	38151719	38151719	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:38151719C>G	ENST00000308059.6	+	23	3411	c.3390C>G	c.(3388-3390)ctC>ctG	p.L1130L	DLEC1_ENST00000346219.3_Silent_p.L1130L|DLEC1_ENST00000452631.2_Silent_p.L1133L					deleted in lung and esophageal cancer 1									p.L1130L(2)		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)		GTTTCTCCCTCAAGTTTGAGT	0.557																																							uc003cho.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3388-3390)CTC>CTG		deleted in lung and esophageal cancer 1 isoform							113.0	121.0	119.0					3																	38151719		1984	4175	6159	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38151719C>G	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.3390C>G	3.37:g.38151719C>G						DLEC1_uc003chp.1_Silent_p.L1130L|DLEC1_uc010hgv.1_Silent_p.L1133L|DLEC1_uc003chr.1_Silent_p.L236L|DLEC1_uc010hgx.1_RNA	p.L1130L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	23	3411	+			1130						Silent	SNP	ENST00000308059.6	37	c.3390C>G	CCDS2672.2																																																																																				0.557	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		15	177	0	0	0	0.00245	0	15	177				
CACNA1D	776	broad.mit.edu	37	3	53785859	53785859	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:53785859C>G	ENST00000350061.5	+	28	4111	c.3600C>G	c.(3598-3600)taC>taG	p.Y1200*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Y1220*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Y1200*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Y107*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1200					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Y1220*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTTCTGGTACGTGGTGAACT	0.493																																							uc003dgv.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3598-3600)TAC>TAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						263.0	221.0	235.0					3																	53785859		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785859C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3600C>G	3.37:g.53785859C>G	ENSP00000288133:p.Tyr1200*					CACNA1D_uc003dgu.3_Nonsense_Mutation_p.Y1220*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.Y1200*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.Y867*|CACNA1D_uc003dgx.1_Nonsense_Mutation_p.Y348*	p.Y1200*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3763	+			1200			IV.|Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.3600C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	44	10.699222	0.99452	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	.	.	.	5.92	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9402	0.19189	0.0:0.6523:0.0:0.3477	.	.	.	.	X	1200;1220;1200;893;107	.	ENSP00000288139:Y1220X	Y	+	3	2	CACNA1D	53760899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.640000	0.24705	1.478000	0.48253	0.655000	0.94253	TAC		0.493	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		27	302	0	0	0	0.00632	0	27	302				
C3orf38	285237	broad.mit.edu	37	3	88205273	88205273	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:88205273C>G	ENST00000318887.3	+	3	788	c.478C>G	c.(478-480)Cta>Gta	p.L160V	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	160					apoptotic process (GO:0006915)			p.L158V(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAATCCTTTTCTAGGACCACC	0.388																																							uc003dqw.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(478-480)CTA>GTA		hypothetical protein LOC285237							70.0	67.0	68.0					3																	88205273		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205273C>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.478C>G	3.37:g.88205273C>G	ENSP00000322469:p.Leu160Val						p.L160V	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	789	+		Lung NSC(201;0.17)	160					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.478C>G	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390574	0.25118	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.93	0.313	0.15842	.	0.537909	0.19488	N	0.113044	T	0.31918	0.0812	M	0.64404	1.975	0.21841	N	0.99951	B	0.23249	0.082	B	0.21546	0.035	T	0.17410	-1.0370	9	0.29301	T	0.29	-0.6008	3.2578	0.06837	0.1086:0.4722:0.1174:0.3018	.	160	Q5JPI3	CC038_HUMAN	V	160	.	ENSP00000322469:L160V	L	+	1	2	C3orf38	88287963	0.005000	0.15991	0.484000	0.27391	0.941000	0.58515	0.114000	0.15520	0.094000	0.17404	0.563000	0.77884	CTA		0.388	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		4	90	0	0	0	0.000602	0	4	90				
SIDT1	54847	broad.mit.edu	37	3	113285349	113285349	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:113285349A>C	ENST00000264852.4	+	2	1031	c.305A>C	c.(304-306)gAg>gCg	p.E102A	SIDT1_ENST00000393830.3_Missense_Mutation_p.E102A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	102					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.E102A(1)		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						CAGCAGAAAGAGGTGCTGTCC	0.493																																							uc003eak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(304-306)GAG>GCG		SID1 transmembrane family, member 1 precursor							231.0	192.0	205.0					3																	113285349		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113285349A>C	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.305A>C	3.37:g.113285349A>C	ENSP00000264852:p.Glu102Ala					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.E102A|SIDT1_uc011big.1_5'UTR	p.E102A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			2	956	+			102			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.305A>C	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	A	6.523	0.464775	0.12402	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.13089	2.62;2.62	5.45	-7.7	0.01259	.	0.499266	0.18385	N	0.142836	T	0.02455	0.0075	N	0.00841	-1.15	0.23260	N	0.998025	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.05525	T	0.97	0.0517	12.0023	0.53237	0.1088:0.3532:0.538:0.0	.	102	Q9NXL6	SIDT1_HUMAN	A	102	ENSP00000264852:E102A;ENSP00000377416:E102A	ENSP00000264852:E102A	E	+	2	0	SIDT1	114768039	0.827000	0.29292	0.674000	0.29902	0.987000	0.75469	-0.146000	0.10250	-1.363000	0.02164	0.379000	0.24179	GAG		0.493	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		4	182	0	0	0	0.000602	0	4	182				
KIAA2018	205717	broad.mit.edu	37	3	113378190	113378190	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:113378190G>A	ENST00000478658.1	-	5	2356	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S780L			Q68DE3	K2018_HUMAN	KIAA2018	780						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S780L(1)		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						AGTGTTCATTGAGGAAGTACT	0.423																																							uc003eam.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2338-2340)TCA>TTA		hypothetical protein LOC205717							121.0	111.0	114.0					3																	113378190		1963	4166	6129	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378190G>A	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.2339C>T	3.37:g.113378190G>A	ENSP00000420721:p.Ser780Leu					KIAA2018_uc003eal.2_Missense_Mutation_p.S724L	p.S780L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2750	-			780					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.2339C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580698	0.13686	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15139	2.45;2.45	5.32	5.32	0.75619	.	0.496555	0.21137	N	0.079548	T	0.14657	0.0354	L	0.29908	0.895	0.09310	N	0.999992	B	0.28713	0.22	B	0.29267	0.1	T	0.15378	-1.0439	10	0.34782	T	0.22	-2.7543	14.6111	0.68517	0.0:0.1455:0.8545:0.0	.	780	Q68DE3	K2018_HUMAN	L	780	ENSP00000320794:S780L;ENSP00000420721:S780L	ENSP00000320794:S780L	S	-	2	0	KIAA2018	114860880	1.000000	0.71417	0.647000	0.29507	0.027000	0.11550	4.978000	0.63799	2.489000	0.83994	0.650000	0.86243	TCA		0.423	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		12	139	0	0	0	0.001855	0	12	139				
ATR	545	broad.mit.edu	37	3	142255000	142255000	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:142255000C>G	ENST00000350721.4	-	20	3890	c.3769G>C	c.(3769-3771)Gat>Cat	p.D1257H	ATR_ENST00000383101.3_Missense_Mutation_p.D1193H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1257					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)	p.D1257H(1)		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						TCTGGATGATCAGGTAAAAAA	0.269								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(3769-3771)GAT>CAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							58.0	67.0	64.0					3																	142255000		2164	4276	6440	SO:0001583	missense	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.chr3:142255000C>G	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.3769G>C	3.37:g.142255000C>G	ENSP00000343741:p.Asp1257His						p.D1257H	NM_001184	NP_001175	Q13535	ATR_HUMAN			20	3891	-			1257					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3769G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666792	0.67814	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.71341	-0.56;-0.56	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.81011	-0.1126	10	0.51188	T	0.08	-24.5855	14.1451	0.65347	0.0:0.9284:0.0:0.0715	.	1257	Q13535	ATR_HUMAN	H	1257;1193	ENSP00000343741:D1257H;ENSP00000372581:D1193H	ENSP00000343741:D1257H	D	-	1	0	ATR	143737690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.047000	0.64232	2.717000	0.92951	0.585000	0.79938	GAT		0.269	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		8	78	0	0	0	0.004482	0	8	78				
SLC33A1	9197	broad.mit.edu	37	3	155571730	155571730	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:155571730G>A	ENST00000392845.3	-	1	437	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC33A1_ENST00000359479.3_Silent_p.F19F|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	19					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGAGTGACTGAAATTCCCTG	0.617																																							uc003fan.3		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(55-57)TTC>TTT		acetyl-coenzyme A transporter							26.0	31.0	29.0					3																	155571730		2197	4296	6493	SO:0001819	synonymous_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571730G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.57C>T	3.37:g.155571730G>A						SLC33A1_uc003fao.1_Silent_p.F19F	p.F19F	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	438	-			19			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	c.57C>T	CCDS3173.1																																																																																				0.617	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		5	34	0	0	0	0.006214	0	5	34				
ACTRT3	84517	broad.mit.edu	37	3	169485492	169485492	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:169485492C>T	ENST00000330368.2	-	2	1221	c.847G>A	c.(847-849)Gat>Aat	p.D283N	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	283						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.D283N(1)									AGGCCTGTATCACATTTCATT	0.453																																							uc003ffs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GAT>AAT		actin related protein M1							105.0	119.0	114.0					3																	169485492		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169485492C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.847G>A	3.37:g.169485492C>T	ENSP00000333037:p.Asp283Asn					TERC_uc003ffr.1_5'Flank	p.D283N	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1222	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		283					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.847G>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054187	0.93793	.	.	ENSG00000184378	ENST00000330368	T	0.09630	2.96	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000026	T	0.37732	0.1014	M	0.82823	2.61	0.53005	D	0.999962	D	0.58620	0.983	D	0.69824	0.966	T	0.18618	-1.0331	10	0.87932	D	0	.	17.7713	0.88493	0.0:1.0:0.0:0.0	.	283	Q9BYD9	ARPM1_HUMAN	N	283	ENSP00000333037:D283N	ENSP00000333037:D283N	D	-	1	0	AC078802.1	170968186	1.000000	0.71417	0.976000	0.42696	0.916000	0.54674	5.890000	0.69774	2.744000	0.94065	0.561000	0.74099	GAT		0.453	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		15	248	0	0	0	0.004007	0	15	248				
LRCH3	84859	broad.mit.edu	37	3	197581296	197581296	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:197581296G>A	ENST00000425562.2	+	14	1624	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	LRCH3_ENST00000441090.2_Missense_Mutation_p.D388N|LRCH3_ENST00000438796.2_Missense_Mutation_p.D542N|LRCH3_ENST00000536618.1_Missense_Mutation_p.D137N|LRCH3_ENST00000334859.4_Missense_Mutation_p.D542N|LRCH3_ENST00000414675.2_Missense_Mutation_p.D514N			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	542						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.D542N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAGCACACTGATGATAGTGC	0.423																																							uc011bul.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1624-1626)GAT>AAT		leucine-rich repeats and calponin homology (CH)							279.0	216.0	237.0					3																	197581296		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197581296G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1624G>A	3.37:g.197581296G>A	ENSP00000393579:p.Asp542Asn					LRCH3_uc003fyj.1_Missense_Mutation_p.D542N|LRCH3_uc011bum.1_Missense_Mutation_p.D514N|LRCH3_uc011bun.1_Missense_Mutation_p.D388N|LRCH3_uc003fyk.2_Missense_Mutation_p.D137N	p.D542N	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	14	1629	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		542					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1624G>A		.	.	.	.	.	.	.	.	.	.	G	25.3	4.621152	0.87460	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;T;T;T;T;T	0.69685	1.96;1.33;1.82;2.21;1.98;0.69;-0.42;0.14	5.52	5.52	0.82312	.	0.105878	0.64402	D	0.000008	T	0.72851	0.3512	L	0.32530	0.975	0.41142	D	0.985964	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992	D;D;D;D;D	0.91635	0.987;0.987;0.999;0.974;0.921	T	0.65973	-0.6038	10	0.13108	T	0.6	-22.9404	18.2617	0.90038	0.0:0.0:1.0:0.0	.	388;514;542;542;542	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	N	542;388;514;542;542;137;53;39	ENSP00000399751:D542N;ENSP00000394609:D388N;ENSP00000394965:D514N;ENSP00000334375:D542N;ENSP00000393579:D542N;ENSP00000439083:D137N;ENSP00000395309:D53N;ENSP00000400164:D39N	ENSP00000334375:D542N	D	+	1	0	LRCH3	199065693	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.676000	0.74498	2.622000	0.88805	0.555000	0.69702	GAT		0.423	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		19	95	0	0	0	0.008871	0	19	95				
ATP8A1	10396	broad.mit.edu	37	4	42457409	42457409	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:42457409G>C	ENST00000381668.5	-	29	2953	c.2722C>G	c.(2722-2724)Ctt>Gtt	p.L908V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L893V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	908					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)	p.L908V(1)|p.L893V(1)		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)	AATATTCCAAGAGTTAAAGGA	0.403																																							uc003gwr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(2722-2724)CTT>GTT		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						150.0	142.0	145.0					4																	42457409		2203	4300	6503	SO:0001583	missense	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.chr4:42457409G>C	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.2722C>G	4.37:g.42457409G>C	ENSP00000371084:p.Leu908Val					ATP8A1_uc003gwq.2_Missense_Mutation_p.L134V|ATP8A1_uc003gws.2_Missense_Mutation_p.L893V	p.L908V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			29	2954	-			908			Helical; (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2722C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555109	0.45487	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.94576	-3.46;-3.46	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000015	D	0.92747	0.7694	L	0.45698	1.435	0.80722	D	1	B;B;B	0.15719	0.014;0.01;0.01	B;B;B	0.23716	0.048;0.021;0.021	D	0.89324	0.3642	10	0.45353	T	0.12	.	18.8625	0.92278	0.0:0.0:1.0:0.0	.	893;908;900	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	908;893	ENSP00000371084:L908V;ENSP00000264449:L893V	ENSP00000264449:L893V	L	-	1	0	ATP8A1	42152166	1.000000	0.71417	0.984000	0.44739	0.938000	0.57974	6.155000	0.71833	2.509000	0.84616	0.557000	0.71058	CTT		0.403	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		6	98	0	0	0	0.001984	0	6	98				
TMPRSS11A	339967	broad.mit.edu	37	4	68812269	68812269	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:68812269C>T	ENST00000334830.7	-	2	778	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R10Q|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R11Q|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	11					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R11Q(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTTCTGCTTCGGGTGCCAAA	0.488																																					NSCLC(26;2 894 10941 14480 22546)	NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(31-33)CGA>CAA		transmembrane protease, serine 11A isoform 1							73.0	66.0	68.0					4																	68812269		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68812269C>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.32G>A	4.37:g.68812269C>T	ENSP00000334611:p.Arg11Gln					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R11Q	p.R11Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			2	153	-			11			Cytoplasmic (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.32G>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055193	0.19907	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.36	4.59	-9.17	0.00691	.	1.975350	0.02895	N	0.134596	T	0.77253	0.4103	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.06405	0.002;0.001	T	0.67597	-0.5630	10	0.36615	T	0.2	.	9.9648	0.41719	0.0:0.2318:0.1707:0.5975	.	11;11	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	Q	10;11;11;5	ENSP00000426911:R10Q;ENSP00000334611:R11Q;ENSP00000379491:R11Q;ENSP00000427621:R5Q	ENSP00000334611:R11Q	R	-	2	0	TMPRSS11A	68494864	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.101000	0.00295	-3.032000	0.00266	-1.916000	0.00518	CGA		0.488	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		5	55	0	0	0	0.001168	0	5	55				
BANK1	55024	broad.mit.edu	37	4	102839186	102839186	+	Missense_Mutation	SNP	G	G	T	rs532040143		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:102839186G>T	ENST00000322953.4	+	7	1320	c.1046G>T	c.(1045-1047)tGt>tTt	p.C349F	BANK1_ENST00000504592.1_Missense_Mutation_p.C334F|BANK1_ENST00000444316.2_Missense_Mutation_p.C319F|BANK1_ENST00000508653.1_Missense_Mutation_p.C216F|BANK1_ENST00000428908.1_Missense_Mutation_p.C216F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	349					B cell activation (GO:0042113)			p.C349F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTCTCCACTGTGCAGCAAAA	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15453	0.0		0.0	False		,,,				2504	0.0						uc003hvy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1045-1047)TGT>TTT		B-cell scaffold protein with ankyrin repeats 1							99.0	98.0	99.0					4																	102839186		2203	4299	6502	SO:0001583	missense	55024				B cell activation			g.chr4:102839186G>T	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1046G>T	4.37:g.102839186G>T	ENSP00000320509:p.Cys349Phe					BANK1_uc003hvx.3_Missense_Mutation_p.C334F|BANK1_uc010ill.2_Missense_Mutation_p.C216F|BANK1_uc003hvz.3_Missense_Mutation_p.C319F	p.C349F	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	7	1320	+		Hepatocellular(203;0.217)	349			ANK 1.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1046G>T	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	1.207	-0.630679	0.03584	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.66	4.66	0.58398	Ankyrin repeat-containing domain (1);	0.153229	0.43919	D	0.000514	T	0.47655	0.1457	N	0.25647	0.755	0.37683	D	0.923547	D;P;P	0.89917	1.0;0.946;0.946	D;P;P	0.91635	0.999;0.636;0.636	T	0.43925	-0.9361	10	0.06099	T	0.92	.	10.1982	0.43067	0.0:0.0:0.8019:0.1981	.	216;349;334	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	F	334;349;216;216;319	ENSP00000421443:C334F;ENSP00000320509:C349F;ENSP00000412748:C216F;ENSP00000422314:C216F;ENSP00000388817:C319F	ENSP00000320509:C349F	C	+	2	0	BANK1	103058209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.409000	0.81822	0.655000	0.94253	TGT		0.378	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		22	62	1	0	1.55469e-16	0.00333	1.74903e-16	22	62				
ANKRD50	57182	broad.mit.edu	37	4	125591892	125591892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:125591892C>A	ENST00000504087.1	-	4	3577	c.2540G>T	c.(2539-2541)gGa>gTa	p.G847V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G668V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	847								p.G847V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGTGTCCATCCAGCATCATC	0.433																																							uc003ifg.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2539-2541)GGA>GTA		ankyrin repeat domain 50							188.0	171.0	176.0					4																	125591892		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591892C>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2540G>T	4.37:g.125591892C>A	ENSP00000425658:p.Gly847Val					ANKRD50_uc011cgo.1_Missense_Mutation_p.G668V|ANKRD50_uc010inw.2_Missense_Mutation_p.G847V	p.G847V	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2806	-			847			ANK 12.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2540G>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896877	0.72639	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.78126	-1.15;-1.15	5.1	5.1	0.69264	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.92437	0.7599	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94608	0.7802	10	0.72032	D	0.01	.	18.7084	0.91646	0.0:1.0:0.0:0.0	.	847	Q9ULJ7	ANR50_HUMAN	V	847;668	ENSP00000425658:G847V;ENSP00000425355:G668V	ENSP00000425658:G847V	G	-	2	0	ANKRD50	125811342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.664000	0.90586	0.561000	0.74099	GGA		0.433	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		11	186	1	0	4.36969e-10	0.001855	4.84027e-10	11	186				
SDHA	6389	broad.mit.edu	37	5	251536	251536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:251536G>C	ENST00000264932.6	+	13	1862	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.E535Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	583					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)	p.E583Q(1)		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)	CTACGGAGCAGAGGCACGGAA	0.612									Familial Paragangliomas																														uc003jao.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GAG>CAG		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						43.0	53.0	50.0					5																	251536		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.chr5:251536G>C	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.1747G>C	5.37:g.251536G>C	ENSP00000264932:p.Glu583Gln					SDHA_uc011clv.1_Missense_Mutation_p.E583Q|SDHA_uc011clw.1_Missense_Mutation_p.E535Q|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.E358Q|SDHA_uc003jar.3_Missense_Mutation_p.E177Q	p.E583Q	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		13	1862	+			583					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1747G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	15.19	2.759696	0.49468	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	T;T;T	0.80304	-1.36;-1.36;-1.36	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84270	0.5435	M	0.65975	2.015	0.80722	D	1	P;B;D;B	0.65815	0.703;0.348;0.995;0.273	P;B;P;B	0.54238	0.457;0.315;0.746;0.315	D	0.86020	0.1506	10	0.56958	D	0.05	.	13.5022	0.61462	0.0:0.0:1.0:0.0	.	535;583;177;583	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	Q	583;438;535;29	ENSP00000264932:E583Q;ENSP00000427703:E535Q;ENSP00000421911:E29Q	ENSP00000264932:E583Q	E	+	1	0	SDHA	304536	1.000000	0.71417	0.962000	0.40283	0.444000	0.32077	8.834000	0.92094	1.853000	0.53794	0.305000	0.20034	GAG		0.612	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		9	206	0	0	0	0.008291	0	9	206				
IRX1	79192	broad.mit.edu	37	5	3600724	3600724	+	Splice_Site	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:3600724G>A	ENST00000302006.3	+	3	1366	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	438					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E438E(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTCGCAGAGAGAGACCTCG	0.607																																							uc003jde.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1312-1314)GAG>GAA		iroquois homeobox protein 1							54.0	59.0	58.0					5																	3600724		2203	4300	6503	SO:0001630	splice_region_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600724G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1313-1G>A	5.37:g.3600724G>A							p.E438E	NM_024337	NP_077313	P78414	IRX1_HUMAN			3	1366	+			438					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.1314G>A	CCDS34132.1																																																																																				0.607	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	Silent	4	228	0	0	0	0.000602	0	4	228				
MYO10	4651	broad.mit.edu	37	5	16701570	16701570	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:16701570C>T	ENST00000513610.1	-	25	3388	c.2934G>A	c.(2932-2934)gaG>gaA	p.E978E	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Silent_p.E317E|MYO10_ENST00000515803.1_Silent_p.E317E|MYO10_ENST00000274203.9_Silent_p.E335E|MYO10_ENST00000427430.2_Silent_p.E335E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	978					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)	p.E978E(1)		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						AGTTGGGCTTCTCCTCGCATG	0.597																																							uc003jft.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2932-2934)GAG>GAA		myosin X							35.0	39.0	38.0					5																	16701570		2111	4232	6343	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701570C>T	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.2934G>A	5.37:g.16701570C>T						MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.E335E|MYO10_uc011cne.1_Silent_p.E335E|MYO10_uc010itx.2_Silent_p.E601E	p.E978E	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			25	3402	-			978					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.2934G>A	CCDS54834.1																																																																																				0.597	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		5	41	0	0	0	0.000602	0	5	41				
CDH6	1004	broad.mit.edu	37	5	31317488	31317488	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:31317488C>G	ENST00000265071.2	+	10	1784	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q452E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	507	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)|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)	p.Q507E(1)		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						TTAGTTGATTCAGACCCTGCA	0.383																																							uc003jhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1519-1521)CAG>GAG		cadherin 6, type 2 preproprotein							78.0	72.0	74.0					5																	31317488		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.chr5:31317488C>G	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.1519C>G	5.37:g.31317488C>G	ENSP00000265071:p.Gln507Glu					CDH6_uc003jhd.1_Missense_Mutation_p.Q507E	p.Q507E	NM_004932	NP_004923	P55285	CADH6_HUMAN			10	1845	+			507			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1519C>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249068	0.80024	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.53206	0.63;0.63	4.75	4.75	0.60458	Cadherin (3);Cadherin-like (1);	0.056524	0.64402	D	0.000001	T	0.59824	0.2222	M	0.71581	2.175	0.54753	D	0.999985	B;P	0.48911	0.051;0.917	B;P	0.50405	0.068;0.64	T	0.64343	-0.6430	10	0.54805	T	0.06	.	18.3208	0.90238	0.0:1.0:0.0:0.0	.	507;507	P55285;P55285-2	CADH6_HUMAN;.	E	452;507	ENSP00000424843:Q452E;ENSP00000265071:Q507E	ENSP00000265071:Q507E	Q	+	1	0	CDH6	31353245	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.246000	0.78247	2.621000	0.88768	0.650000	0.86243	CAG		0.383	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		9	87	0	0	0	0.010729	0	9	87				
PLK2	10769	broad.mit.edu	37	5	57753340	57753340	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:57753340C>T	ENST00000274289.3	-	6	1084	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	262	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)	p.D262N(1)		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)		GCCCAAATGTCTGATTCACAG	0.373																																							uc003jrn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(784-786)GAC>AAC		polo-like kinase 2							101.0	98.0	99.0					5																	57753340		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753340C>T		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.784G>A	5.37:g.57753340C>T	ENSP00000274289:p.Asp262Asn						p.D262N	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	6	911	-		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)	262			Protein kinase.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.784G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519394	0.96416	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.75154	-0.91	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	D	0.92554	0.7635	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95322	0.8421	10	0.87932	D	0	-26.9036	19.5182	0.95174	0.0:1.0:0.0:0.0	.	262	Q9NYY3	PLK2_HUMAN	N	262;262;248	ENSP00000274289:D262N	ENSP00000274289:D262N	D	-	1	0	PLK2	57789097	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.463000	0.80869	2.603000	0.88011	0.655000	0.94253	GAC		0.373	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		8	66	0	0	0	0.004482	0	8	66				
PPWD1	23398	broad.mit.edu	37	5	64867882	64867882	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:64867882G>A	ENST00000261308.5	+	5	810	c.738G>A	c.(736-738)atG>atA	p.M246I	PPWD1_ENST00000538977.1_Missense_Mutation_p.M90I|PPWD1_ENST00000535264.1_Missense_Mutation_p.M216I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	246					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.M246I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AATCTGGGATGATTGAATACT	0.378																																							uc003jtv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)ATG>ATA		peptidylprolyl isomerase domain and WD repeat							85.0	89.0	87.0					5																	64867882		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64867882G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.738G>A	5.37:g.64867882G>A	ENSP00000261308:p.Met246Ile					PPWD1_uc011cqv.1_Missense_Mutation_p.M216I|PPWD1_uc011cqw.1_Missense_Mutation_p.M90I	p.M246I	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	745	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	246			WD 3.		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.738G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319102	0.41096	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.62364	0.03;0.03;5.08;0.03	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	L	0.31371	0.925	0.80722	D	1	B;B	0.18166	0.026;0.015	B;B	0.17433	0.018;0.008	T	0.48536	-0.9027	10	0.09590	T	0.72	.	20.1207	0.97960	0.0:0.0:1.0:0.0	.	216;246	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	246;216;90;165	ENSP00000261308:M246I;ENSP00000442371:M216I;ENSP00000444496:M90I;ENSP00000423234:M165I	ENSP00000261308:M246I	M	+	3	0	PPWD1	64903638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.791000	0.99081	2.755000	0.94549	0.491000	0.48974	ATG		0.378	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		4	111	0	0	0	0.009096	0	4	111				
ERBB2IP	55914	broad.mit.edu	37	5	65288649	65288649	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:65288649G>C	ENST00000284037.5	+	3	492	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E35Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	35					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)	p.E35Q(1)		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)		TTGCAGCTTAGAACAAGTTCC	0.393																																							uc003juk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(103-105)GAA>CAA		ERBB2 interacting protein isoform 2							104.0	102.0	103.0					5																	65288649		2203	4300	6503	SO:0001583	missense	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.chr5:65288649G>C		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.103G>C	5.37:g.65288649G>C	ENSP00000284037:p.Glu35Gln					ERBB2IP_uc003juh.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003jui.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003juj.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E35Q|ERBB2IP_uc011cqz.1_Missense_Mutation_p.E35Q|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E35Q|ERBB2IP_uc003jul.1_Missense_Mutation_p.E35Q	p.E35Q	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	3	411	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	35			LRR 1.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.103G>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057179	0.55325	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.38560	1.31;1.31;1.37;1.31;1.5;1.13;1.38;1.3;1.54;1.13	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	N	0.00569	-1.365	0.80722	D	1	B;D;D;D;D;D;B;D	0.89917	0.057;0.999;0.979;1.0;0.997;0.999;0.34;0.999	B;D;P;D;D;D;B;D	0.83275	0.05;0.996;0.822;0.996;0.972;0.994;0.343;0.996	T	0.56673	-0.7940	10	0.13108	T	0.6	.	18.9363	0.92586	0.0:0.0:1.0:0.0	.	35;35;35;35;35;35;35;35	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	35	ENSP00000284037:E35Q;ENSP00000370330:E35Q;ENSP00000397833:E35Q;ENSP00000370326:E35Q;ENSP00000370323:E35Q;ENSP00000370322:E35Q;ENSP00000370325:E35Q;ENSP00000422766:E35Q;ENSP00000426632:E35Q;ENSP00000422015:E35Q	ENSP00000284037:E35Q	E	+	1	0	ERBB2IP	65324405	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.484000	0.66844	2.476000	0.83614	0.655000	0.94253	GAA		0.393	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		6	140	0	0	0	0.001984	0	6	140				
MAST4	375449	broad.mit.edu	37	5	66460707	66460707	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:66460707G>A	ENST00000403625.2	+	29	5995	c.5700G>A	c.(5698-5700)agG>agA	p.R1900R	MAST4_ENST00000261569.7_Silent_p.R1706R|MAST4_ENST00000404260.3_Silent_p.R1903R|MAST4_ENST00000403666.1_Silent_p.R1711R|MAST4_ENST00000405643.1_Silent_p.R1721R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1903						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R1903R(1)		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)		AGAGGGACAGGAAAGGTCCCC	0.567																																							uc003jut.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(5131-5133)AGG>AGA		microtubule associated serine/threonine kinase							50.0	56.0	54.0					5																	66460707		1978	4162	6140	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460707G>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.5700G>A	5.37:g.66460707G>A						MAST4_uc003juw.2_Silent_p.R1639R|MAST4_uc003jux.2_5'Flank	p.R1711R	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5201	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1903					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5133G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	7.146	0.582719	0.13749	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.78	2.96	0.34315	.	.	.	.	.	T	0.54822	0.1882	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.50338	-0.8840	4	.	.	.	-7.8048	6.2941	0.21077	0.3295:0.0:0.6705:0.0	.	.	.	.	K	957	.	.	E	+	1	0	MAST4	66496463	0.998000	0.40836	0.209000	0.23619	0.157000	0.22087	0.958000	0.29227	1.232000	0.43678	0.467000	0.42956	GAA		0.567	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	69	0	0	0	0.004482	0	6	69				
CD180	4064	broad.mit.edu	37	5	66480332	66480332	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:66480332C>G	ENST00000256447.4	-	3	496	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	113					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L113L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCATGAATATCAGGGGATTTC	0.393																																							uc003juy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(337-339)CTG>CTC		CD180 molecule precursor							125.0	125.0	125.0					5																	66480332		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66480332C>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.339G>C	5.37:g.66480332C>G							p.L113L	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	487	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	113			LRR 3.|Extracellular (Potential).		B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.339G>C	CCDS3992.1																																																																																				0.393	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		18	180	0	0	0	0.007413	0	18	180				
ENC1	8507	broad.mit.edu	37	5	73931322	73931322	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:73931322C>G	ENST00000302351.4	-	2	2119	c.989G>C	c.(988-990)aGa>aCa	p.R330T	ENC1_ENST00000537006.1_Missense_Mutation_p.R330T|ENC1_ENST00000510316.1_Missense_Mutation_p.R257T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	330					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R330T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		AAACTCTTTTCTTGGGCTGGG	0.478																																							uc003kdc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(988-990)AGA>ACA		ectodermal-neural cortex (with BTB-like domain)							125.0	135.0	131.0					5																	73931322		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931322C>G	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.989G>C	5.37:g.73931322C>G	ENSP00000306356:p.Arg330Thr					ENC1_uc011css.1_Missense_Mutation_p.R257T	p.R330T	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2120	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	330			Kelch 1.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.989G>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091855	0.76756	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.85339	-1.97;-1.97;-1.97	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92198	0.7526	M	0.79614	2.46	0.80722	D	1	D	0.60160	0.987	P	0.62298	0.9	D	0.92325	0.5869	10	0.87932	D	0	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	330	O14682	ENC1_HUMAN	T	330;257;330	ENSP00000306356:R330T;ENSP00000423804:R257T;ENSP00000446289:R330T	ENSP00000306356:R330T	R	-	2	0	ENC1	73967078	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	7.818000	0.86416	2.793000	0.96121	0.561000	0.74099	AGA		0.478	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		10	233	0	0	0	0.010729	0	10	233				
F2R	2149	broad.mit.edu	37	5	76028674	76028674	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:76028674G>A	ENST00000319211.4	+	2	889	c.624G>A	c.(622-624)atG>atA	p.M208I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	208					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|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 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 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 JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.M208I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TGTATCCCATGCAGTCCCTCT	0.542																																							uc003ken.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(622-624)ATG>ATA		coagulation factor II receptor precursor	Streptokinase(DB00086)						182.0	180.0	181.0					5																	76028674		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028674G>A	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.624G>A	5.37:g.76028674G>A	ENSP00000321326:p.Met208Ile						p.M208I	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	889	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	208			Cytoplasmic (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.624G>A	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383795	0.04966	.	.	ENSG00000181104	ENST00000319211	T	0.36699	1.24	5.07	-0.157	0.13387	GPCR, rhodopsin-like superfamily (1);	0.386097	0.31809	N	0.007040	T	0.19886	0.0478	N	0.04387	-0.21	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20338	-1.0278	10	0.11182	T	0.66	-15.6128	24.4953	0.99990	0.0:0.1655:0.8344:0.0	.	208	P25116	PAR1_HUMAN	I	208	ENSP00000321326:M208I	ENSP00000321326:M208I	M	+	3	0	F2R	76064430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	1.242000	0.32755	-0.138000	0.11434	-0.270000	0.10280	ATG		0.542	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			37	242	0	0	0	0.004289	0	37	242				
SLCO4C1	353189	broad.mit.edu	37	5	101595922	101595922	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:101595922G>C	ENST00000310954.6	-	6	1409	c.1123C>G	c.(1123-1125)Cta>Gta	p.L375V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L375V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTACCTTTAGAGCAGCTGGA	0.358																																							uc003knm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1123-1125)CTA>GTA		solute carrier organic anion transporter family,							38.0	39.0	38.0					5																	101595922		2201	4293	6494	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101595922G>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1123C>G	5.37:g.101595922G>C	ENSP00000309741:p.Leu375Val						p.L375V	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	6	1410	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	375			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1123C>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	g	2.911	-0.225293	0.06022	.	.	ENSG00000173930	ENST00000310954	T	0.39229	1.09	5.76	3.02	0.34903	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106857	0.40385	N	0.001119	T	0.25791	0.0628	N	0.22421	0.69	0.26370	N	0.976908	B	0.12013	0.005	B	0.17979	0.02	T	0.19811	-1.0294	10	0.16896	T	0.51	.	9.6778	0.40052	0.1188:0.1185:0.7627:0.0	.	375	Q6ZQN7	SO4C1_HUMAN	V	375	ENSP00000309741:L375V	ENSP00000309741:L375V	L	-	1	2	SLCO4C1	101623821	0.990000	0.36364	0.992000	0.48379	0.555000	0.35460	0.454000	0.21827	0.352000	0.24053	-0.713000	0.03633	CTA		0.358	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		3	15	0	0	0	0.004672	0	3	15				
SLCO6A1	133482	broad.mit.edu	37	5	101755593	101755593	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:101755593A>T	ENST00000506729.1	-	8	1580	c.1409T>A	c.(1408-1410)gTg>gAg	p.V470E	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V470E|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V408E|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	470						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V470E(1)		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)		AATAATAAACACAAGCAGTAT	0.338																																							uc003knn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1408-1410)GTG>GAG		solute carrier organic anion transporter family,							108.0	113.0	111.0					5																	101755593		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101755593A>T	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.1409T>A	5.37:g.101755593A>T	ENSP00000421339:p.Val470Glu					SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.V470E|SLCO6A1_uc003knq.2_Missense_Mutation_p.V408E	p.V470E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	8	1581	-		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)	470			Helical; Name=9; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1409T>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285084	0.40394	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.42900	0.96;0.96;0.96	4.99	-4.28	0.03732	Major facilitator superfamily domain, general substrate transporter (1);	2.093660	0.02067	N	0.051235	T	0.37945	0.1022	L	0.39898	1.24	0.09310	N	1	P;P	0.40360	0.61;0.714	B;P	0.47891	0.26;0.56	T	0.28618	-1.0038	10	0.30854	T	0.27	.	2.5306	0.04702	0.356:0.3894:0.1369:0.1177	.	408;470	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	E	470;470;408	ENSP00000421339:V470E;ENSP00000369135:V470E;ENSP00000373671:V408E	ENSP00000369135:V470E	V	-	2	0	SLCO6A1	101783492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.170000	0.09897	-0.795000	0.04462	-1.236000	0.01555	GTG		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		13	68	0	0	0	0.00245	0	13	68				
CD14	929	broad.mit.edu	37	5	140012043	140012043	+	Missense_Mutation	SNP	T	T	G	rs536505189		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:140012043T>G	ENST00000302014.6	-	2	1155	c.526A>C	c.(526-528)Agc>Cgc	p.S176R	CD14_ENST00000401743.2_Missense_Mutation_p.S176R	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	176					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)	p.S176R(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAATGCTCAGTACCTTG	0.617																																							uc003lgi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(526-528)AGC>CGC		CD14 antigen precursor							62.0	57.0	59.0					5																	140012043		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.chr5:140012043T>G		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.526A>C	5.37:g.140012043T>G	ENSP00000304236:p.Ser176Arg					CD14_uc003lgj.1_Missense_Mutation_p.S176R	p.S176R	NM_000591	NP_000582	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	880	-			176			LRR 5.		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.526A>C	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.271229	0.23221	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	T;T;T	0.29917	2.16;2.16;1.55	5.96	4.76	0.60689	.	0.989400	0.08237	N	0.976715	T	0.23054	0.0557	N	0.22421	0.69	0.27050	N	0.963811	B	0.22080	0.064	B	0.15052	0.012	T	0.06373	-1.0830	10	0.38643	T	0.18	-6.0527	10.367	0.44030	0.0:0.0:0.1632:0.8368	.	176	P08571	CD14_HUMAN	R	176	ENSP00000304236:S176R;ENSP00000385519:S176R;ENSP00000426543:S176R	ENSP00000304236:S176R	S	-	1	0	CD14	139992227	0.004000	0.15560	0.618000	0.29105	0.019000	0.09904	-0.290000	0.08354	2.285000	0.76669	0.533000	0.62120	AGC		0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		10	54	0	0	0	0.003163	0	10	54				
PCDHGA12	26025	broad.mit.edu	37	5	140890710	140890710	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:140890710G>C	ENST00000252085.3	+	4	2911	c.2769G>C	c.(2767-2769)aaG>aaC	p.K923N	PCDHGA2_ENST00000394576.2_Missense_Mutation_p.K923N|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.K921N|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.K922N|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.K914N|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.K922N|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.K923N|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.K918N|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.K929N|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.K926N|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.K920N|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.K923N|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.K922N|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.K922N|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.K935N|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.K927N|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.K920N|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.K923N|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.K923N|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.K923N|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.K925N|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.K741N	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	923					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K923N(9)|p.K922N(7)|p.K920N(3)|p.K918N(2)|p.K925N(2)|p.K935N(2)|p.K914N(1)|p.K921N(1)|p.K927N(1)|p.K929N(1)|p.K926N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCAACAAGAAGAAGTCGG	0.597																																							uc003lla.1		NA																	30	Substitution - Missense(30)		lung(30)	ovary(3)	3						c.(2803-2805)AAG>AAC		protocadherin gamma subfamily C, 5 isoform 1							75.0	72.0	73.0					5																	140890710		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140890710G>C	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2769G>C	5.37:g.140890710G>C	ENSP00000252085:p.Lys923Asn					PCDHGA1_uc003lji.1_Missense_Mutation_p.K922N|PCDHGA2_uc003ljk.1_Missense_Mutation_p.K923N|PCDHGA3_uc003ljm.1_Missense_Mutation_p.K923N|PCDHGA3_uc010jfx.1_Missense_Mutation_p.K683N|PCDHGB1_uc003ljo.1_Missense_Mutation_p.K918N|PCDHGA4_uc003ljq.1_Missense_Mutation_p.K922N|PCDHGB2_uc003ljs.1_Missense_Mutation_p.K922N|PCDHGA5_uc003lju.1_Missense_Mutation_p.K922N|PCDHGB3_uc003ljw.1_Missense_Mutation_p.K920N|PCDHGA6_uc003ljy.1_Missense_Mutation_p.K923N|PCDHGA7_uc003lka.1_Missense_Mutation_p.K923N|PCDHGB4_uc003lkc.1_Missense_Mutation_p.K914N|PCDHGA8_uc003lkd.1_Missense_Mutation_p.K923N|PCDHGB5_uc003lkf.1_Missense_Mutation_p.K914N|PCDHGA9_uc003lkh.1_Missense_Mutation_p.K923N|PCDHGB6_uc003lkj.1_Missense_Mutation_p.K921N|PCDHGA10_uc003lkl.1_Missense_Mutation_p.K927N|PCDHGB7_uc003lkn.1_Missense_Mutation_p.K920N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.K741N|PCDHGA11_uc003lkq.1_Missense_Mutation_p.K926N|PCDHGA12_uc003lkt.1_Missense_Mutation_p.K923N|PCDHGC3_uc003lkv.1_Missense_Mutation_p.K925N|PCDHGC3_uc003lkw.1_Missense_Mutation_p.K125N|PCDHGC4_uc003lky.1_Missense_Mutation_p.K929N	p.K935N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	2805	+			935			Cytoplasmic (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2805G>C	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723705	0.30593	.	.	ENSG00000204956;ENSG00000081853;ENSG00000254245;ENSG00000254221;ENSG00000253910;ENSG00000253485;ENSG00000253731;ENSG00000253537;ENSG00000253953;ENSG00000253767;ENSG00000253305;ENSG00000253846;ENSG00000254122;ENSG00000253873;ENSG00000253873;ENSG00000253159;ENSG00000240184;ENSG00000242419;ENSG00000240764	ENST00000517417;ENST00000394576;ENST00000253812;ENST00000523390;ENST00000522605;ENST00000518069;ENST00000517434;ENST00000518325;ENST00000519479;ENST00000398604;ENST00000520790;ENST00000398610;ENST00000398594;ENST00000398587;ENST00000518882;ENST00000252085;ENST00000308177;ENST00000306593;ENST00000252087	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64991	0.23;0.21;0.32;0.29;0.2;0.3;0.35;0.19;0.21;0.26;0.19;0.15;0.24;0.28;-0.13;0.22;0.25;0.16;0.21	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000134	T	0.77025	0.4070	M	0.74881	2.28	0.41506	D	0.988317	P;P;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.761;0.468;0.92;0.994;1.0;0.986;0.992;0.974;0.998;0.995;0.997;1.0;0.998;0.974;0.986;0.997;0.997;0.974;0.986;0.986;0.999;0.986;0.997;0.986	B;B;P;P;D;P;D;P;D;P;P;D;D;P;P;P;P;P;P;P;D;P;P;P	0.85130	0.42;0.223;0.624;0.808;0.976;0.902;0.955;0.861;0.941;0.861;0.861;0.997;0.941;0.861;0.902;0.902;0.902;0.861;0.902;0.902;0.976;0.861;0.902;0.902	T	0.77910	-0.2411	10	0.45353	T	0.12	.	13.1109	0.59273	0.0801:0.0:0.9199:0.0	.	935;929;125;925;923;926;741;920;927;921;923;914;923;914;923;923;920;922;922;922;918;923;923;922	Q9Y5F6;Q9Y5F7;Q9BR81;Q9UN70;O60330;Q9Y5H2;Q9Y5H2-3;Q9Y5F8;Q9Y5H3;Q9Y5F9;Q9Y5G4;Q9Y5G0;Q9Y5G5;Q9UN71;Q9Y5G6;Q9Y5G7;Q9Y5G1;Q9Y5G8;Q9Y5G2;Q9Y5G9;Q9Y5G3;Q9Y5H0;Q9Y5H1;Q9Y5H4	PCDGM_HUMAN;PCDGL_HUMAN;.;PCDGK_HUMAN;PCDGC_HUMAN;PCDGB_HUMAN;.;PCDGJ_HUMAN;PCDGA_HUMAN;PCDGI_HUMAN;PCDG9_HUMAN;PCDGH_HUMAN;PCDG8_HUMAN;PCDGG_HUMAN;PCDG7_HUMAN;PCDG6_HUMAN;PCDGF_HUMAN;PCDG5_HUMAN;PCDGE_HUMAN;PCDG4_HUMAN;PCDGD_HUMAN;PCDG3_HUMAN;PCDG2_HUMAN;PCDG1_HUMAN	N	922;923;923;918;922;922;923;923;914;923;921;927;920;926;741;923;925;929;935	ENSP00000431083:K922N;ENSP00000378077:K923N;ENSP00000253812:K923N;ENSP00000429273:K918N;ENSP00000429018:K922N;ENSP00000429834:K922N;ENSP00000429601:K923N;ENSP00000430024:K923N;ENSP00000428288:K914N;ENSP00000381605:K923N;ENSP00000428603:K921N;ENSP00000381611:K927N;ENSP00000381594:K920N;ENSP00000381589:K926N;ENSP00000428333:K741N;ENSP00000252085:K923N;ENSP00000312070:K925N;ENSP00000306918:K929N;ENSP00000252087:K935N	ENSP00000381611:K927N	K	+	3	2	PCDHGA12;PCDHGA10;PCDHGA11;PCDHGB7;PCDHGA8;PCDHGC5;PCDHGA7;PCDHGB6;PCDHGC4;PCDHGA6;PCDHGC3;PCDHGA5;PCDHGA3;PCDHGB2;PCDHGA2;PCDHGA1;PCDHGB4;PCDHGB1	140870894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.162000	0.71874	2.390000	0.81377	0.511000	0.50034	AAG		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		8	97	0	0	0	0.004482	0	8	97				
HMP19	51617	broad.mit.edu	37	5	173531304	173531304	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:173531304C>G	ENST00000303177.3	+	4	549	c.287C>G	c.(286-288)aCc>aGc	p.T96S	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		96					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T96S(1)									AAAGCCTTCACCTATGATCAC	0.473																																							uc003mcx.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(286-288)ACC>AGC		HMP19 protein							202.0	167.0	179.0					5																	173531304		2203	4300	6503	SO:0001583	missense	51617				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding	g.chr5:173531304C>G																												ENST00000303177.3:c.287C>G	5.37:g.173531304C>G	ENSP00000307722:p.Thr96Ser					HMP19_uc011dfh.1_5'UTR	p.T96S	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	432	+	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	96			Lumenal (Potential).		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	ENST00000303177.3	37	c.287C>G	CCDS4391.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357211	0.82243	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521278;ENST00000519717	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.73122	-0.4082	9	0.34782	T	0.22	-24.0552	19.2541	0.93938	0.0:1.0:0.0:0.0	.	96	Q9Y328	NSG2_HUMAN	S	96	.	ENSP00000307722:T96S	T	+	2	0	AC011333.1	173463910	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.722000	0.68485	2.607000	0.88179	0.655000	0.94253	ACC		0.473	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			15	72	0	0	0	0.007413	0	15	72				
GPRIN1	114787	broad.mit.edu	37	5	176026184	176026184	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:176026184C>G	ENST00000303991.4	-	2	829	c.652G>C	c.(652-654)Gat>Cat	p.D218H		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	218					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.D218H(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAAAGGATCTACTTTTCCC	0.517																																							uc003meo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)GAT>CAT		G protein-regulated inducer of neurite outgrowth							83.0	83.0	83.0					5																	176026184		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176026184C>G	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.652G>C	5.37:g.176026184C>G	ENSP00000305839:p.Asp218His						p.D218H	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	827	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	218					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.652G>C	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738272	0.49045	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.13657	2.57	4.88	4.88	0.63580	.	0.211787	0.23797	N	0.044463	T	0.19287	0.0463	M	0.77820	2.39	0.09310	N	1	P	0.43287	0.802	B	0.40677	0.337	T	0.25502	-1.0130	10	0.59425	D	0.04	-0.3506	9.5376	0.39231	0.0:0.903:0.0:0.097	.	218	Q7Z2K8	GRIN1_HUMAN	H	218	ENSP00000305839:D218H	ENSP00000305839:D218H	D	-	1	0	GPRIN1	175958790	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	0.588000	0.23924	2.406000	0.81754	0.563000	0.77884	GAT		0.517	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		15	176	0	0	0	0.004007	0	15	176				
ZFP2	80108	broad.mit.edu	37	5	178359365	178359365	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:178359365G>A	ENST00000361362.2	+	5	1581	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ZFP2_ENST00000523286.1_Missense_Mutation_p.E351K|ZFP2_ENST00000520301.1_Missense_Mutation_p.E351K|ZFP2_ENST00000503510.2_Missense_Mutation_p.E351K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	351					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.E351K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCACACTGGAGAGAAACCTTA	0.413																																							uc003mjn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1051-1053)GAG>AAG		zinc finger protein 2 homolog							79.0	75.0	76.0					5																	178359365		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359365G>A	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1051G>A	5.37:g.178359365G>A	ENSP00000354453:p.Glu351Lys					ZFP2_uc010jky.2_Missense_Mutation_p.E351K|ZFP2_uc010jkx.1_Missense_Mutation_p.E351K	p.E351K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1560	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	351					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.1051G>A	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462532	0.63513	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.79	3.92	0.45320	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32736	N	0.005707	T	0.28797	0.0714	L	0.42686	1.345	0.38355	D	0.944455	P	0.45672	0.864	P	0.48063	0.565	T	0.14587	-1.0467	10	0.62326	D	0.03	-8.3029	10.9328	0.47228	0.0913:0.0:0.9087:0.0	.	351	Q6ZN57	ZFP2_HUMAN	K	351	ENSP00000354453:E351K;ENSP00000430980:E351K;ENSP00000430531:E351K;ENSP00000438114:E351K	ENSP00000354453:E351K	E	+	1	0	ZFP2	178291971	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.419000	0.59835	1.240000	0.43803	0.655000	0.94253	GAG		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		7	87	0	0	0	0.001984	0	7	87				
PAK1IP1	55003	broad.mit.edu	37	6	10707679	10707679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:10707679G>C	ENST00000379568.3	+	8	1063	c.772G>C	c.(772-774)Gag>Cag	p.E258Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	258					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E258Q(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328																																							uc003mzg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GAG>CAG		PAK1 interacting protein 1							234.0	215.0	222.0					6																	10707679		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10707679G>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.772G>C	6.37:g.10707679G>C	ENSP00000368887:p.Glu258Gln						p.E258Q	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN			8	803	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	258			WD 5.		Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.772G>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021064	0.75275	.	.	ENSG00000111845	ENST00000379568	T	0.35421	1.31	5.76	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146447	0.64402	D	0.000010	T	0.20536	0.0494	L	0.49350	1.555	0.36654	D	0.877541	B	0.28258	0.205	B	0.29440	0.102	T	0.09143	-1.0688	10	0.59425	D	0.04	-13.749	12.783	0.57487	0.0792:0.0:0.9208:0.0	.	258	Q9NWT1	PK1IP_HUMAN	Q	258	ENSP00000368887:E258Q	ENSP00000368887:E258Q	E	+	1	0	PAK1IP1	10815665	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.120000	0.71596	1.431000	0.47355	0.655000	0.94253	GAG		0.328	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		11	226	0	0	0	0.001855	0	11	226				
VARS	7407	broad.mit.edu	37	6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T	rs199533729		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Missense_Mutation_p.R203H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					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)	p.R498H(2)		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)	GAGCAGGGTGCGACCTGTCAG	0.597																																							uc003nxe.2		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1492-1494)CGC>CAC		valyl-tRNA synthetase	L-Valine(DB00161)						73.0	77.0	76.0					6																	31752254		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752254C>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.1493G>A	6.37:g.31752254C>T	ENSP00000364815:p.Arg498His					VARS_uc011doi.1_RNA	p.R498H	NM_006295	NP_006286	P26640	SYVC_HUMAN			12	1916	-			498					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1493G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020064	0.93462	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T	0.04406	3.63	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.83692	2.655	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.00824	-1.1551	10	0.35671	T	0.21	-13.372	17.587	0.87984	0.0:1.0:0.0:0.0	.	498	P26640	SYVC_HUMAN	H	498;203	ENSP00000364815:R498H	ENSP00000364815:R498H	R	-	2	0	VARS	31860233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.403000	0.66338	2.747000	0.94245	0.655000	0.94253	CGC		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		4	201	0	0	0	0.000602	0	4	201				
RUNX2	860	broad.mit.edu	37	6	45459812	45459812	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:45459812C>T	ENST00000371438.1	+	5	1178	c.820C>T	c.(820-822)Cca>Tca	p.P274S	RUNX2_ENST00000359524.5_Missense_Mutation_p.P260S|RUNX2_ENST00000371436.6_Missense_Mutation_p.P274S|RUNX2_ENST00000465038.2_Missense_Mutation_p.P274S|RUNX2_ENST00000541979.1_Missense_Mutation_p.P342S|RUNX2_ENST00000352853.5_Missense_Mutation_p.P342S|RUNX2_ENST00000576263.1_Missense_Mutation_p.P274S|RUNX2_ENST00000371432.3_Missense_Mutation_p.P260S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	274	Pro/Ser/Thr-rich.				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)	p.P274S(1)|p.P342S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAACTCTGCACCAAGTCCTTT	0.532																																							uc011dvx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(820-822)CCA>TCA		runt-related transcription factor 2 isoform a							261.0	202.0	222.0					6																	45459812		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.chr6:45459812C>T	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.820C>T	6.37:g.45459812C>T	ENSP00000360493:p.Pro274Ser					RUNX2_uc011dvy.1_Missense_Mutation_p.P274S|RUNX2_uc003oxt.2_Missense_Mutation_p.P260S	p.P274S	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			6	1030	+			274			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.820C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373683	0.42105	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	6.03	6.03	0.97812	.	0.046439	0.85682	D	0.000000	T	0.44222	0.1283	N	0.14661	0.345	0.53688	D	0.999978	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.14023	0.01;0.005;0.004	T	0.32322	-0.9911	10	0.33141	T	0.24	-4.5928	18.7472	0.91797	0.0:1.0:0.0:0.0	.	342;274;260	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	S	274;342;342;274;274;260;260	ENSP00000420707:P274S;ENSP00000319087:P342S;ENSP00000446290:P342S;ENSP00000360493:P274S;ENSP00000360491:P274S;ENSP00000352514:P260S;ENSP00000360486:P260S	ENSP00000319087:P342S	P	+	1	0	RUNX2	45567790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.259000	0.65485	2.854000	0.98071	0.655000	0.94253	CCA		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	134	0	0	0	0.009096	0	4	134				
PKHD1	5314	broad.mit.edu	37	6	51720762	51720762	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:51720762T>C	ENST00000371117.3	-	49	8115	c.7840A>G	c.(7840-7842)Atg>Gtg	p.M2614V	PKHD1_ENST00000340994.4_Missense_Mutation_p.M2614V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2614					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)					AGCAGAGCCATCCAGCCACGA	0.423																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7840-7842)ATG>GTG		fibrocystin isoform 1							181.0	182.0	182.0					6																	51720762		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.chr6:51720762T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7840A>G	6.37:g.51720762T>C	ENSP00000360158:p.Met2614Val					PKHD1_uc010jzn.1_Missense_Mutation_p.M597V|PKHD1_uc003pai.2_Missense_Mutation_p.M2614V	p.M2614V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			49	8116	-	Lung NSC(77;0.0605)		2614			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7840A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541169	0.65085	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89875	-2.4;-2.58	6.17	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.91442	0.7299	M	0.77616	2.38	0.33526	D	0.593061	D;D;D	0.71674	0.983;0.998;0.996	P;D;P	0.77557	0.829;0.99;0.901	D	0.91065	0.4888	10	0.42905	T	0.14	.	11.4722	0.50275	0.0:0.0693:0.0:0.9307	.	2614;2614;2614	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2614	ENSP00000360158:M2614V;ENSP00000341097:M2614V	ENSP00000341097:M2614V	M	-	1	0	PKHD1	51828721	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.307000	0.65762	1.160000	0.42584	0.533000	0.62120	ATG		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	104	0	0	0	0.008361	0	17	104				
KHDRBS2	202559	broad.mit.edu	37	6	62688017	62688017	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:62688017G>A	ENST00000281156.4	-	4	715	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.S146L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ACTCATACGTGAATAAGCTTC	0.368																																							uc003peg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(436-438)TCA>TTA		KH domain-containing, RNA-binding, signal							119.0	110.0	113.0					6																	62688017		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62688017G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.437C>T	6.37:g.62688017G>A	ENSP00000281156:p.Ser146Leu						p.S146L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	684	-			146					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.437C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595784	0.46318	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.17370	2.28	5.46	5.46	0.80206	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.20530	0.585	0.49051	D	0.99974	B	0.33103	0.397	B	0.30316	0.114	T	0.26224	-1.0109	10	0.30078	T	0.28	-2.5542	19.3174	0.94220	0.0:0.0:1.0:0.0	.	146	Q5VWX1	KHDR2_HUMAN	L	146	ENSP00000281156:S146L	ENSP00000281156:S146L	S	-	2	0	KHDRBS2	62745976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.557000	0.67313	2.569000	0.86673	0.650000	0.86243	TCA		0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	85	0	0	0	0.008291	0	10	85				
MAD1L1	8379	broad.mit.edu	37	7	2108903	2108903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:2108903C>T	ENST00000406869.1	-	12	1701	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	MAD1L1_ENST00000399654.2_Missense_Mutation_p.E382K|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E382K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E290K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	382	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)		p.E382K(1)		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)		TTCCTCTCCTCCAACAGCTGG	0.637																																							uc003slh.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1144-1146)GAG>AAG		MAD1-like 1 protein							41.0	47.0	45.0					7																	2108903		2086	4221	6307	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.chr7:2108903C>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.1144G>A	7.37:g.2108903C>T	ENSP00000385334:p.Glu382Lys					MAD1L1_uc003sle.1_Missense_Mutation_p.E111K|MAD1L1_uc003slf.1_Missense_Mutation_p.E382K|MAD1L1_uc003slg.1_Missense_Mutation_p.E382K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E382K|MAD1L1_uc003sli.1_Missense_Mutation_p.E290K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E335K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E382K	p.E382K	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	12	1410	-		Ovarian(82;0.0272)	382			Necessary for interaction with NEK2.|Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1144G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898111	0.52227	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.29	5.29	0.74685	.	0.055621	0.64402	D	0.000001	T	0.32645	0.0836	L	0.61387	1.9	0.43777	D	0.9963	P;B;B	0.35192	0.489;0.243;0.374	B;B;B	0.38655	0.176;0.207;0.278	T	0.08493	-1.0719	10	0.06891	T	0.86	-36.5554	16.1241	0.81380	0.0:1.0:0.0:0.0	.	381;290;382	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	K	290;382;382;382;49	ENSP00000384155:E290K;ENSP00000382562:E382K;ENSP00000385334:E382K;ENSP00000265854:E382K;ENSP00000414877:E49K	ENSP00000265854:E382K	E	-	1	0	MAD1L1	2075429	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	5.539000	0.67199	2.489000	0.83994	0.655000	0.94253	GAG		0.637	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		6	102	0	0	0	0.006214	0	6	102				
HECW1	23072	broad.mit.edu	37	7	43548608	43548608	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:43548608C>T	ENST00000395891.2	+	24	4512	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Silent_p.L1269L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1303	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1303L(1)|p.L1282L(1)		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						CTTCTTCCTTCTGTCTCAGGA	0.527																																							uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3907-3909)CTG>TTG		NEDD4-like ubiquitin-protein ligase 1							137.0	133.0	134.0					7																	43548608		1886	4117	6003	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43548608C>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.3907C>T	7.37:g.43548608C>T						HECW1_uc011kbi.1_Silent_p.L1269L|uc003tig.1_RNA	p.L1303L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			24	4512	+			1303			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3907C>T	CCDS5469.2																																																																																				0.527	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		16	307	0	0	0	0.003163	0	16	307				
PKD1L1	168507	broad.mit.edu	37	7	47979820	47979820	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:47979820C>T	ENST00000289672.2	-	3	305	c.255G>A	c.(253-255)caG>caA	p.Q85Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	85					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.Q85Q(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						AGGATGGGCTCTGTGATTCCC	0.468																																							uc003tny.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(253-255)CAG>CAA		polycystin-1L1							162.0	138.0	146.0					7																	47979820		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47979820C>T	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.255G>A	7.37:g.47979820C>T							p.Q85Q	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			3	255	-			85			Extracellular (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.255G>A	CCDS34633.1																																																																																				0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	230	0	0	0	0.000602	0	4	230				
ACN9	57001	broad.mit.edu	37	7	96810322	96810322	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:96810322A>G	ENST00000360382.4	+	3	255		c.e3-1		ACN9_ENST00000432641.2_Splice_Site|ACN9_ENST00000479853.1_Splice_Site					ACN9 homolog (S. cerevisiae)									p.?(1)		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)					TTATCTTTTTAGGTGTATGCA	0.328																																							uc003uoo.3		NA																	1	Unknown(1)		lung(1)		0						c.e2-2		ACN9 homolog precursor							54.0	54.0	54.0					7																	96810322		2203	4299	6502	SO:0001630	splice_region_variant	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810322A>G	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.205-1A>G	7.37:g.96810322A>G							p.V59_splice	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			2	1306	+	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)								Splice_Site	SNP	ENST00000360382.4	37	c.175_splice		.	.	.	.	.	.	.	.	.	.	A	17.81	3.481722	0.63849	.	.	ENSG00000196636	ENST00000432641	.	.	.	4.52	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.26924	N	0.966615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2202	0.31537	0.7971:0.2029:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACN9	96648258	1.000000	0.71417	0.031000	0.17742	0.916000	0.54674	6.013000	0.70776	0.839000	0.34971	0.482000	0.46254	.		0.328	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186	Intron	5	31	0	0	0	0.00308	0	5	31				
SLC12A9	56996	broad.mit.edu	37	7	100459452	100459452	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:100459452G>C	ENST00000354161.3	+	12	1755	c.1630G>C	c.(1630-1632)Gcc>Ccc	p.A544P	SLC12A9_ENST00000428758.1_Missense_Mutation_p.A544P|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A455P|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A455P|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A544P	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					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)	p.A544P(1)		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)					CCCCCGGGGCGCCCTGCCTCT	0.657																																							uc003uwp.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1630-1632)GCC>CCC		solute carrier family 12 (potassium/chloride							31.0	37.0	35.0					7																	100459452		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459452G>C	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.1630G>C	7.37:g.100459452G>C	ENSP00000275730:p.Ala544Pro					SLC12A9_uc003uwq.2_Missense_Mutation_p.A455P|SLC12A9_uc011kki.1_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.2_Missense_Mutation_p.A280P|SLC12A9_uc003uws.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.2_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.2_Missense_Mutation_p.A75P	p.A544P	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			12	1772	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		544			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1630G>C	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730854	0.48939	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.91351	-2.56;-2.55;-2.18;-2.18;-2.83	5.56	2.67	0.31697	.	0.380748	0.29113	N	0.013107	D	0.88526	0.6460	L	0.27053	0.805	0.09310	N	0.999991	D;B	0.63046	0.992;0.279	D;B	0.64237	0.923;0.346	T	0.78585	-0.2147	10	0.49607	T	0.09	.	4.353	0.11165	0.17:0.0:0.487:0.343	.	455;544	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	P	544;544;455;455;544;170	ENSP00000443702:A544P;ENSP00000408301:A544P;ENSP00000275729:A455P;ENSP00000413796:A455P;ENSP00000275730:A544P	ENSP00000275729:A455P	A	+	1	0	SLC12A9	100297388	0.064000	0.20934	0.497000	0.27552	0.993000	0.82548	0.596000	0.24044	0.651000	0.30788	0.478000	0.44815	GCC		0.657	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		8	43	0	0	0	0.014323	0	8	43				
MUC17	140453	broad.mit.edu	37	7	100682517	100682517	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:100682517C>T	ENST00000306151.4	+	3	7884	c.7820C>T	c.(7819-7821)aCt>aTt	p.T2607I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2607	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)	p.T2607I(1)		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)					CCTGTCACCACTTCTACTGAA	0.443																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7819-7821)ACT>ATT		mucin 17 precursor							254.0	257.0	256.0					7																	100682517		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682517C>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.7820C>T	7.37:g.100682517C>T	ENSP00000302716:p.Thr2607Ile					MUC17_uc010lho.1_RNA	p.T2607I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7873	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2607			Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7820C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.857	0.159293	0.09236	.	.	ENSG00000169876	ENST00000306151	T	0.02916	4.11	0.673	-0.284	0.12870	.	.	.	.	.	T	0.01976	0.0062	L	0.32530	0.975	0.09310	N	1	P	0.45531	0.86	B	0.36885	0.235	T	0.47169	-0.9138	9	0.31617	T	0.26	.	3.7995	0.08753	0.0:0.4729:0.0:0.5271	.	2607	Q685J3	MUC17_HUMAN	I	2607	ENSP00000302716:T2607I	ENSP00000302716:T2607I	T	+	2	0	MUC17	100469237	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.332000	0.07904	-0.115000	0.11915	-1.381000	0.01174	ACT		0.443	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		74	404	0	0	0	0.01441	0	74	404				
CLDN15	24146	broad.mit.edu	37	7	100877591	100877591	+	Missense_Mutation	SNP	G	G	A	rs80277788	byFrequency	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:100877591G>A	ENST00000401528.1	-	3	1475	c.350C>T	c.(349-351)gCg>gTg	p.A117V	CLDN15_ENST00000308344.5_Missense_Mutation_p.A117V|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	117					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A117V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TGCGGTGGCCGCCAGCTTGGC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15077	0.002		0.0	False		,,,				2504	0.0						uc003uyg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)GCG>GTG		claudin 15							49.0	57.0	54.0					7																	100877591		2203	4300	6503	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100877591G>A	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.350C>T	7.37:g.100877591G>A	ENSP00000385300:p.Ala117Val					CLDN15_uc003uyh.1_Missense_Mutation_p.A117V|CLDN15_uc003uyi.2_3'UTR	p.A117V	NM_014343	NP_055158	P56746	CLD15_HUMAN			2	604	-	Lung NSC(181;0.168)|all_lung(186;0.215)		117			Cytoplasmic (Potential).		B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.350C>T	CCDS5717.1	4	0.0018315018315018315	0	0.0	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	G	15.46	2.840299	0.51057	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;T	0.86432	-2.12;-2.12;0.17	5.48	2.61	0.31194	.	0.169599	0.51477	D	0.000090	T	0.79964	0.4537	L	0.52126	1.63	0.38536	D	0.949096	P	0.47409	0.895	P	0.47981	0.563	T	0.78758	-0.2079	10	0.48119	T	0.1	.	6.3241	0.21234	0.1734:0.153:0.6736:0.0	.	117	P56746	CLD15_HUMAN	V	117;117;94	ENSP00000308870:A117V;ENSP00000385300:A117V;ENSP00000390230:A94V	ENSP00000308870:A117V	A	-	2	0	CLDN15	100664311	1.000000	0.71417	0.852000	0.33557	0.025000	0.11179	4.688000	0.61715	0.246000	0.21394	0.561000	0.74099	GCG		0.657	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		46	110	0	0	0	0.01441	0	46	110				
PTPRZ1	5803	broad.mit.edu	37	7	121636514	121636514	+	Missense_Mutation	SNP	G	G	C	rs371531195		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:121636514G>C	ENST00000393386.2	+	9	1418	c.1007G>C	c.(1006-1008)cGa>cCa	p.R336P	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R336P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	336	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R336P(2)		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						GAAAGACCTCGAGTCGTTTAT	0.408																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1006-1008)CGA>CCA		protein tyrosine phosphatase, receptor-type,							131.0	125.0	127.0					7																	121636514		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636514G>C	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.1007G>C	7.37:g.121636514G>C	ENSP00000377047:p.Arg336Pro					PTPRZ1_uc003vjz.2_Missense_Mutation_p.R336P	p.R336P	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			9	1402	+			336			Extracellular (Potential).|Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1007G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269544	0.80469	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.56611	0.45;0.45	5.92	5.92	0.95590	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.65333	0.2681	L	0.29908	0.895	0.46203	D	0.998921	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66866	-0.5815	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	336;336	C9JFM0;P23471	.;PTPRZ_HUMAN	P	336	ENSP00000377047:R336P;ENSP00000410000:R336P	ENSP00000377047:R336P	R	+	2	0	PTPRZ1	121423750	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	9.209000	0.95087	2.809000	0.96659	0.655000	0.94253	CGA		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	138	0	0	0	0.009096	0	4	138				
RNF133	168433	broad.mit.edu	37	7	122338652	122338653	+	Missense_Mutation	DNP	CC	CC	AG	rs548637042		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:122338652_122338653CC>AG	ENST00000340112.2	-	1	557_558	c.320_321GG>CT	c.(319-321)cGG>cCT	p.R107P	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	107	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R107P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TACAACCTCCCCGTTCAATAAG	0.455																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(319-321)CGG>CCT		ring finger protein 133																																				SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338652_122338653CC>AG	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.320_321delinsAG	7.37:g.122338652_122338653delinsAG	ENSP00000344489:p.Arg107Pro					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.R107P	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	556_557	-			107			PA.		A4D0W2|Q8N7G7	Missense_Mutation	DNP	ENST00000340112.2	37	c.320_321GG>CT	CCDS5784.1																																																																																				0.455	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		22	247	0	0	0	0.004672	0	22	247				
MEST	4232	broad.mit.edu	37	7	130143804	130143804	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:130143804T>G	ENST00000223215.4	+	11	1078	c.857T>G	c.(856-858)gTa>gGa	p.V286G	MEST_ENST00000416162.2_Missense_Mutation_p.V243G|MEST_ENST00000341441.5_Missense_Mutation_p.V277G|MEST_ENST00000393187.1_Missense_Mutation_p.V277G|MEST_ENST00000437945.1_Intron|MEST_ENST00000378576.4_Missense_Mutation_p.V243G	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	286					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.V286G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TTGGATCCTGTAAATCCCTAT	0.398																																					Colon(126;2182 2305 6517 35181)	Colon(126;2182 2305 6517 35181)	uc003vqg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(856-858)GTA>GGA		mesoderm specific transcript isoform a							158.0	156.0	157.0					7																	130143804		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130143804T>G		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.857T>G	7.37:g.130143804T>G	ENSP00000223215:p.Val286Gly					MEST_uc003vqc.2_Missense_Mutation_p.V277G|MEST_uc003vqd.2_Missense_Mutation_p.V243G|MEST_uc003vqf.2_Missense_Mutation_p.V277G|MEST_uc011kph.1_Missense_Mutation_p.V272G|MEST_uc010lmg.2_Intron	p.V286G	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			11	1074	+	Melanoma(18;0.0435)		286			Helical; (Potential).		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.857T>G	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676233	0.88445	.	.	ENSG00000106484	ENST00000341441;ENST00000416162;ENST00000378576;ENST00000393187;ENST00000223215	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.08	6.08	0.98989	.	0.055914	0.64402	D	0.000001	D	0.83275	0.5219	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.85673	0.1296	10	0.87932	D	0	.	15.8241	0.78683	0.0:0.0:0.0:1.0	.	272;286;243	B4DQW6;Q5EB52;Q5EB52-3	.;MEST_HUMAN;.	G	277;243;243;277;286	ENSP00000342749:V277G;ENSP00000408933:V243G;ENSP00000367839:V243G;ENSP00000376884:V277G;ENSP00000223215:V286G	ENSP00000223215:V286G	V	+	2	0	MEST	129931040	1.000000	0.71417	0.838000	0.33150	0.993000	0.82548	6.071000	0.71229	2.330000	0.79161	0.533000	0.62120	GTA		0.398	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		14	177	0	0	0	0.00499	0	14	177				
CNOT4	4850	broad.mit.edu	37	7	135098287	135098287	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:135098287G>A	ENST00000315544.5	-	6	916	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CNOT4_ENST00000451834.1_Missense_Mutation_p.L213F|CNOT4_ENST00000423368.2_Missense_Mutation_p.L213F|CNOT4_ENST00000428680.2_Missense_Mutation_p.L213F|CNOT4_ENST00000361528.4_Missense_Mutation_p.L213F|CNOT4_ENST00000356162.4_Missense_Mutation_p.L213F|CNOT4_ENST00000541284.1_Missense_Mutation_p.L213F|CNOT4_ENST00000414802.1_Missense_Mutation_p.L213F	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	213					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L213F(4)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AATTCATGAAGATACATGCAG	0.418																																					Ovarian(51;766 1130 5502 35047 50875)	Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(637-639)CTT>TTT		CCR4-NOT transcription complex, subunit 4							128.0	118.0	121.0					7																	135098287		1861	4108	5969	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135098287G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.637C>T	7.37:g.135098287G>A	ENSP00000326731:p.Leu213Phe					CNOT4_uc003vss.2_Missense_Mutation_p.L213F|CNOT4_uc011kpz.1_Missense_Mutation_p.L213F|CNOT4_uc003vst.2_Missense_Mutation_p.L213F|CNOT4_uc003vsu.1_Missense_Mutation_p.L213F|CNOT4_uc011kpy.1_Missense_Mutation_p.L213F	p.L213F	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			6	944	-			213			C3H1-type.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.637C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006368	0.74932	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.61158	0.16;0.14;0.19;0.17;0.21;0.21;0.13;0.15	5.95	5.95	0.96441	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.91459	3.21	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.999	D;D;D;D;D;D	0.97110	0.999;1.0;0.997;0.999;0.986;0.994	D	0.83901	0.0290	10	0.87932	D	0	-10.7034	13.5625	0.61797	0.0708:0.0:0.9292:0.0	.	213;213;213;213;213;213	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	F	213	ENSP00000445508:L213F;ENSP00000388491:L213F;ENSP00000406777:L213F;ENSP00000354673:L213F;ENSP00000416532:L213F;ENSP00000348485:L213F;ENSP00000399108:L213F;ENSP00000326731:L213F	ENSP00000262563:L213F	L	-	1	0	CNOT4	134748827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.632000	0.83247	2.826000	0.97356	0.563000	0.77884	CTT		0.418	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		5	80	0	0	0	0.001168	0	5	80				
KIAA1549	57670	broad.mit.edu	37	7	138602619	138602619	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:138602619C>G	ENST00000422774.1	-	2	1801	c.1753G>C	c.(1753-1755)Gac>Cac	p.D585H	KIAA1549_ENST00000440172.1_Missense_Mutation_p.D585H|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D535H			Q9HCM3	K1549_HUMAN	KIAA1549	585	Ser-rich.					integral component of membrane (GO:0016021)		p.D585H(1)|p.D535H(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACACTCGGGTCTCTGACGGCA	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(1753-1755)GAC>CAC		hypothetical protein LOC57670 isoform 1							66.0	68.0	67.0					7																	138602619		1969	4145	6114	SO:0001583	missense	57670					integral to membrane		g.chr7:138602619C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1753G>C	7.37:g.138602619C>G	ENSP00000416040:p.Asp585His					KIAA1549_uc003vuk.3_Missense_Mutation_p.D535H|KIAA1549_uc011kqj.1_Missense_Mutation_p.D585H	p.D585H	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	1802	-			585			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1753G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	7.180	0.589485	0.13812	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.93;1.93;1.93	3.97	0.797	0.18654	.	0.979373	0.08341	N	0.960819	T	0.15435	0.0372	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.14023	0.005;0.01	T	0.30001	-0.9993	10	0.48119	T	0.1	.	5.0106	0.14310	0.0:0.4467:0.0:0.5533	.	585;585	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	H	585;535;585	ENSP00000406661:D585H;ENSP00000242365:D535H;ENSP00000416040:D585H	ENSP00000242365:D535H	D	-	1	0	KIAA1549	138253159	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.057000	0.14279	0.339000	0.23719	0.591000	0.81541	GAC		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	25	0	0	0	0.000602	0	4	25				
CLCN1	1180	broad.mit.edu	37	7	143027907	143027907	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:143027907T>G	ENST00000343257.2	+	8	983	c.896T>G	c.(895-897)gTt>gGt	p.V299G	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	299					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)	p.V299G(1)		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)					TACTTTGCTGTTCGGAACTAC	0.552																																							uc003wcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(895-897)GTT>GGT		chloride channel 1, skeletal muscle							163.0	127.0	140.0					7																	143027907		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143027907T>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.896T>G	7.37:g.143027907T>G	ENSP00000339867:p.Val299Gly					CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Missense_Mutation_p.F95V	p.V299G	NM_000083	NP_000074	P35523	CLCN1_HUMAN			8	983	+	Melanoma(164;0.205)		299					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.896T>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284499	0.80803	.	.	ENSG00000188037	ENST00000343257	D	0.94613	-3.47	4.57	4.57	0.56435	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97453	1.0029	10	0.87932	D	0	.	13.9361	0.64026	0.0:0.0:0.0:1.0	.	299	P35523	CLCN1_HUMAN	G	299	ENSP00000339867:V299G	ENSP00000339867:V299G	V	+	2	0	CLCN1	142738029	1.000000	0.71417	0.696000	0.30242	0.878000	0.50629	6.236000	0.72339	1.696000	0.51158	0.372000	0.22366	GTT		0.552	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		40	78	0	0	0	0.00874	0	40	78				
PTK2B	2185	broad.mit.edu	37	8	27287917	27287917	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:27287917G>A	ENST00000397501.1	+	12	1459	c.651G>A	c.(649-651)caG>caA	p.Q217Q	PTK2B_ENST00000338238.4_Silent_p.Q217Q|PTK2B_ENST00000420218.2_Silent_p.Q217Q|PTK2B_ENST00000346049.5_Silent_p.Q217Q|PTK2B_ENST00000544172.1_Silent_p.Q217Q|PTK2B_ENST00000517339.1_Silent_p.Q217Q|PTK2B_ENST00000397497.4_5'Flank	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.Q217Q(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCCCAAAGCAGATGCAGGAGA	0.552																																							uc003xfn.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|skin(1)	5						c.(649-651)CAG>CAA		PTK2B protein tyrosine kinase 2 beta isoform a							87.0	86.0	87.0					8																	27287917		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27287917G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.651G>A	8.37:g.27287917G>A						PTK2B_uc003xfo.1_Silent_p.Q217Q|PTK2B_uc003xfp.1_Silent_p.Q217Q|PTK2B_uc003xfq.1_Silent_p.Q217Q|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank	p.Q217Q	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	12	1459	+		Ovarian(32;2.72e-05)	217			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.651G>A	CCDS6057.1																																																																																				0.552	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		13	114	0	0	0	0.00499	0	13	114				
TTPA	7274	broad.mit.edu	37	8	63978592	63978592	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:63978592C>G	ENST00000260116.4	-	3	454	c.423G>C	c.(421-423)gaG>gaC	p.E141D	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	141	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		E -> K (in AVED). {ECO:0000269|PubMed:9463307}.		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)	p.E141D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GTACAATAAGCTCGGATGTGA	0.393																																							uc003xux.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GAG>GAC		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						97.0	86.0	90.0					8																	63978592		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63978592C>G	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.423G>C	8.37:g.63978592C>G	ENSP00000260116:p.Glu141Asp						p.E141D	NM_000370	NP_000361	P49638	TTPA_HUMAN			3	455	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	141		E -> K (in AVED).	CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.423G>C	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916125	0.73098	.	.	ENSG00000137561	ENST00000260116	D	0.91945	-2.94	5.54	2.78	0.32641	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	L	0.55103	1.725	0.52501	D	0.999956	D	0.58970	0.984	P	0.56434	0.798	D	0.89548	0.3797	10	0.38643	T	0.18	.	11.0763	0.48034	0.0:0.7525:0.0:0.2475	.	141	P49638	TTPA_HUMAN	D	141	ENSP00000260116:E141D	ENSP00000260116:E141D	E	-	3	2	TTPA	64141146	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	1.076000	0.30729	0.306000	0.22856	0.655000	0.94253	GAG		0.393	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		28	36	0	0	0	0.005443	0	28	36				
UBR5	51366	broad.mit.edu	37	8	103291157	103291157	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:103291157C>G	ENST00000520539.1	-	44	6791	c.6185G>C	c.(6184-6186)aGa>aCa	p.R2062T	UBR5_ENST00000220959.4_Missense_Mutation_p.R2062T|UBR5_ENST00000521922.1_Missense_Mutation_p.R2056T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2062					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)	p.R2062K(1)|p.R2062T(1)		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)			ATCCTCCTTTCTAGCATTTGG	0.348																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(6184-6186)AGA>ACA		ubiquitin protein ligase E3 component n-recognin							98.0	111.0	107.0					8																	103291157		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.chr8:103291157C>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.6185G>C	8.37:g.103291157C>G	ENSP00000429084:p.Arg2062Thr					UBR5_uc003yks.1_Missense_Mutation_p.R2062T	p.R2062T	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6218	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2062					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6185G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544662	0.65198	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47528	0.84;0.84;0.84	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.31578	0.945	0.58432	D	0.999998	D;D	0.54601	0.967;0.967	D;D	0.63597	0.916;0.916	T	0.55341	-0.8156	10	0.46703	T	0.11	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	2056;2062	E7EMW7;O95071	.;UBR5_HUMAN	T	2062;2062;2056	ENSP00000429084:R2062T;ENSP00000220959:R2062T;ENSP00000427819:R2056T	ENSP00000220959:R2062T	R	-	2	0	UBR5	103360333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.854000	0.98071	0.655000	0.94253	AGA		0.348	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		13	221	0	0	0	0.013537	0	13	221				
CSMD3	114788	broad.mit.edu	37	8	113694818	113694818	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:113694818G>A	ENST00000297405.5	-	16	2774	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R740W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R804W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	844	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R844W(2)|p.R804W(1)		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						CCAAACCGCCGTGCATTGATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2530-2532)CGG>TGG		CUB and Sushi multiple domains 3 isoform 1							99.0	98.0	99.0					8																	113694818		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694818G>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.2530C>T	8.37:g.113694818G>A	ENSP00000297405:p.Arg844Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R116W|CSMD3_uc003ynt.2_Missense_Mutation_p.R804W|CSMD3_uc011lhx.1_Missense_Mutation_p.R740W	p.R844W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2689	-			844			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2530C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365030	0.61513	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.58	2.68	0.31781	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000007	T	0.74824	0.3767	M	0.65320	2	0.35099	D	0.765076	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.994	T	0.79804	-0.1649	10	0.45353	T	0.12	.	14.6998	0.69147	0.0:0.0:0.5806:0.4194	.	740;844;804	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	804;844;184;740;844	ENSP00000345799:R804W;ENSP00000297405:R844W;ENSP00000341558:R184W;ENSP00000412263:R740W;ENSP00000343124:R844W	ENSP00000297405:R844W	R	-	1	2	CSMD3	113763994	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.219000	0.42899	0.242000	0.21303	-0.284000	0.09977	CGG		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	151	0	0	0	0.00333	0	20	151				
DEPTOR	64798	broad.mit.edu	37	8	121019082	121019082	+	Missense_Mutation	SNP	C	C	T	rs141805893		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:121019082C>T	ENST00000286234.5	+	7	1094	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	DEPTOR_ENST00000523492.1_Missense_Mutation_p.P221S|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	322					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)		p.P322S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ACTCCTTACTCCCGGGGCTCC	0.512																																							uc003yow.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(964-966)CCC>TCC		DEP domain containing 6		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	163.0	132.0	143.0		964	5.2	0.6	8	dbSNP_134	143	0,8600		0,0,4300	no	missense	DEPTOR	NM_022783.2	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	322/410	121019082	1,13005	2203	4300	6503	SO:0001583	missense	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.chr8:121019082C>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.964C>T	8.37:g.121019082C>T	ENSP00000286234:p.Pro322Ser					DEPDC6_uc011lid.1_Missense_Mutation_p.P221S	p.P322S	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	1151	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		322					B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.964C>T	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327654	0.60743	2.27E-4	0.0	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.31769	1.62;1.48	5.2	5.2	0.72013	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.75020	0.985;0.722	T	0.33007	-0.9885	10	0.19147	T	0.46	-21.0891	18.9313	0.92566	0.0:1.0:0.0:0.0	.	221;322	E7EV87;Q8TB45	.;DPTOR_HUMAN	S	221;322	ENSP00000430457:P221S;ENSP00000286234:P322S	ENSP00000286234:P322S	P	+	1	0	DEPTOR	121088263	1.000000	0.71417	0.578000	0.28575	0.382000	0.30200	5.543000	0.67225	2.717000	0.92951	0.655000	0.94253	CCC		0.512	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		4	76	0	0	0	0.000602	0	4	76				
TBC1D31	93594	broad.mit.edu	37	8	124089411	124089411	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:124089411G>C	ENST00000287380.1	+	2	228	c.138G>C	c.(136-138)ttG>ttC	p.L46F	TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000327098.5_Missense_Mutation_p.L46F|TBC1D31_ENST00000309336.3_Missense_Mutation_p.L46F|TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000522420.1_5'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	46						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.L46F(1)									TGCGATTTTTGAATGTGGCTT	0.373																																							uc003ypp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(136-138)TTG>TTC		WD repeat domain 67 isoform 1							144.0	138.0	140.0					8																	124089411		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124089411G>C	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.138G>C	8.37:g.124089411G>C	ENSP00000287380:p.Leu46Phe					WDR67_uc011lig.1_Missense_Mutation_p.L46F|WDR67_uc011lih.1_5'UTR|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.L46F	p.L46F	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	228	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		46			WD 1.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.138G>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598838	0.66332	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522276	T;T;T;T	0.70986	-0.48;-0.4;-0.38;-0.53	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.983;0.994;0.973	T	0.82600	-0.0377	10	0.52906	T	0.07	-13.3436	10.157	0.42829	0.0719:0.1357:0.7924:0.0	.	46;46;46	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	F	46;46;46;36	ENSP00000287380:L46F;ENSP00000308358:L46F;ENSP00000312701:L46F;ENSP00000428891:L36F	ENSP00000287380:L46F	L	+	3	2	WDR67	124158592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.511000	0.53400	1.347000	0.45714	-0.143000	0.13931	TTG		0.373	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		20	256	0	0	0	0.007413	0	20	256				
PYCRL	65263	broad.mit.edu	37	8	144689207	144689207	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:144689207G>C	ENST00000220966.6	-	3	317	c.288C>G	c.(286-288)gtC>gtG	p.V96V	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	84					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.V84V(1)		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)	CCTCTGCCAGGACAGCTGGCA	0.627																																							uc003yyy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)GTC>GTG		pyrroline-5-carboxylate reductase-like							66.0	58.0	61.0					8																	144689207		2203	4300	6503	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144689207G>C	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.288C>G	8.37:g.144689207G>C						PYCRL_uc011lkm.1_Silent_p.V96V|PYCRL_uc011lkn.1_RNA	p.V96V	NM_023078	NP_075566	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)		3	298	-	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)		84					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.288C>G	CCDS6407.2																																																																																				0.627	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		9	93	0	0	0	0.001855	0	9	93				
TDRD7	23424	broad.mit.edu	37	9	100258036	100258036	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr9:100258036C>T	ENST00000355295.4	+	17	3463	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	TDRD7_ENST00000540902.1_Silent_p.V376V|TDRD7_ENST00000422139.2_Silent_p.V982V	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1056	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				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)	p.V1056V(1)		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)				TGCAGACAGTCATTGAAAATG	0.478																																							uc004axj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3166-3168)GTC>GTT		tudor domain containing 7							170.0	164.0	166.0					9																	100258036		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100258036C>T	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.3168C>T	9.37:g.100258036C>T						TDRD7_uc011lux.1_Silent_p.V982V|TDRD7_uc011luy.1_Silent_p.V376V	p.V1056V	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			17	3393	+		Acute lymphoblastic leukemia(62;0.158)	1056			Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.3168C>T	CCDS6725.1																																																																																				0.478	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		23	154	0	0	0	0.014323	0	23	154				
NUP214	8021	broad.mit.edu	37	9	134003067	134003067	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr9:134003067C>T	ENST00000359428.5	+	2	346	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L68F|NUP214_ENST00000451030.1_Missense_Mutation_p.L68F			P35658	NU214_HUMAN	nucleoporin 214kDa	68	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)	p.L68F(1)		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)		TAAAAATCTTCTTATTCAAAA	0.448			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(202-204)CTT>TTT		nucleoporin 214kDa							69.0	78.0	75.0					9																	134003067		2203	4299	6502	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.chr9:134003067C>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.202C>T	9.37:g.134003067C>T	ENSP00000352400:p.Leu68Phe					NUP214_uc004cah.2_Missense_Mutation_p.L68F|NUP214_uc004caf.1_Missense_Mutation_p.L68F	p.L68F	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	2	313	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	68					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.202C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647990	0.87958	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.94576	-3.46;-3.46;-3.46	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.36932	N	0.002326	D	0.96611	0.8894	L	0.59436	1.845	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95994	0.8988	10	0.45353	T	0.12	-20.89	18.9239	0.92537	0.0:1.0:0.0:0.0	.	68;68	P35658-4;P35658	.;NU214_HUMAN	F	68	ENSP00000352400:L68F;ENSP00000396576:L68F;ENSP00000405014:L68F	ENSP00000352400:L68F	L	+	1	0	NUP214	132992888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.360000	0.44151	2.715000	0.92844	0.655000	0.94253	CTT		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	138	0	0	0	0.000602	0	5	138				
TLR7	51284	broad.mit.edu	37	X	12905246	12905246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:12905246C>A	ENST00000380659.3	+	3	1758	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	540					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)	p.P540H(1)		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)	GAATTCCAACCTTTAGCAGAG	0.398																																							uc004cvc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1618-1620)CCT>CAT		toll-like receptor 7 precursor	Imiquimod(DB00724)						175.0	185.0	182.0					X																	12905246		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:12905246C>A	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.1619C>A	X.37:g.12905246C>A	ENSP00000370034:p.Pro540His						p.P540H	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1758	+			540			Extracellular (Potential).|LRR 17.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1619C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.823276	0.00589	.	.	ENSG00000196664	ENST00000380659	T	0.56103	0.48	5.84	3.99	0.46301	.	0.396106	0.25878	N	0.027710	T	0.32224	0.0822	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.12682	-1.0538	10	0.17832	T	0.49	.	13.3527	0.60611	0.604:0.396:0.0:0.0	.	540	Q9NYK1	TLR7_HUMAN	H	540	ENSP00000370034:P540H	ENSP00000370034:P540H	P	+	2	0	TLR7	12815167	0.020000	0.18652	0.023000	0.16930	0.162000	0.22319	2.293000	0.43558	0.551000	0.29008	0.600000	0.82982	CCT		0.398	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		153	378	1	0	1.42561e-87	0.01441	1.62927e-87	153	378				
TLR8	51311	broad.mit.edu	37	X	12937571	12937571	+	Missense_Mutation	SNP	C	C	T	rs374687057		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:12937571C>T	ENST00000218032.6	+	2	499	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	TLR8_ENST00000311912.5_Missense_Mutation_p.P156S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	138					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|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 innate immune response (GO:0045089)|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-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.P156S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAACCAGTTACCCCAAATACC	0.388																																							uc004cve.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(412-414)CCC>TCC		toll-like receptor 8 precursor							78.0	80.0	79.0					X																	12937571		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937571C>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.412C>T	X.37:g.12937571C>T	ENSP00000218032:p.Pro138Ser					TLR8_uc004cvd.2_Missense_Mutation_p.P156S	p.P138S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	480	+			138			LRR 1.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.412C>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.276690	0.00254	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00776	5.71;5.71	5.09	-10.2	0.00374	.	4.418230	0.00659	N	0.000581	T	0.00300	0.0009	N	0.00569	-1.365	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.16289	0.015;0.015	T	0.45571	-0.9252	10	0.18710	T	0.47	.	4.4133	0.11443	0.1882:0.0708:0.2332:0.5079	.	138;156	Q9NR97;D1CS70	TLR8_HUMAN;.	S	138;156	ENSP00000218032:P138S;ENSP00000312082:P156S	ENSP00000218032:P138S	P	+	1	0	TLR8	12847492	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.289000	0.00525	-5.735000	0.00010	-0.306000	0.09157	CCC		0.388	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		50	175	0	0	0	0.01441	0	50	175				
CACNA1F	778	broad.mit.edu	37	X	49068406	49068406	+	Missense_Mutation	SNP	C	C	T	rs375658952		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:49068406C>T	ENST00000376265.2	-	35	4146	c.4085G>A	c.(4084-4086)cGa>cAa	p.R1362Q	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1351Q|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1297Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1362					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1362Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGTTGTTTCGGTTTATCTG	0.552																																							uc004dnb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4084-4086)CGA>CAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)	C	GLN/ARG	1,3834		0,0,1,1632,570	252.0	149.0	184.0		4085	5.1	1.0	X		184	1,6727		0,1,0,2427,1872	no	missense	CACNA1F	NM_005183.2	43	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging	1362/1978	49068406	2,10561	2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49068406C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4085G>A	X.37:g.49068406C>T	ENSP00000365441:p.Arg1362Gln					CACNA1F_uc010nip.2_Missense_Mutation_p.R1351Q	p.R1362Q	NM_005183	NP_005174	O60840	CAC1F_HUMAN			35	4147	-			1362			Extracellular (Potential).|IV.		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4085G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766264	0.90020	2.61E-4	1.49E-4	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97328	-4.34;-4.34;-4.34	5.05	5.05	0.67936	Ion transport (1);	0.108999	0.64402	D	0.000015	D	0.98482	0.9494	M	0.86268	2.805	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.987	D	0.99795	1.1033	10	0.87932	D	0	.	16.1657	0.81754	0.0:1.0:0.0:0.0	.	1351;1362	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	1297;1351;1362	ENSP00000365427:R1297Q;ENSP00000321618:R1351Q;ENSP00000365441:R1362Q	ENSP00000321618:R1351Q	R	-	2	0	CACNA1F	48955350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.067000	0.61834	0.600000	0.82982	CGA		0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		21	151	0	0	0	0.00333	0	21	151				
MAGEE2	139599	broad.mit.edu	37	X	75003459	75003459	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:75003459G>C	ENST00000373359.2	-	1	1620	c.1428C>G	c.(1426-1428)atC>atG	p.I476M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	476	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I476M(1)|p.I476I(1)		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						CTTTCATTTTGATGGTTTCAT	0.493																																							uc004ecj.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		cervix(1)|lung(1)	ovary(1)|skin(1)	2						c.(1426-1428)ATC>ATG		melanoma antigen family E, 2							95.0	79.0	84.0					X																	75003459		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003459G>C	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.1428C>G	X.37:g.75003459G>C	ENSP00000362457:p.Ile476Met						p.I476M	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1613	-			476			MAGE 2.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1428C>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834350	0.16820	.	.	ENSG00000186675	ENST00000373359	T	0.04758	3.56	2.73	1.86	0.25419	.	.	.	.	.	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	0.999991	B	0.13594	0.008	B	0.10450	0.005	T	0.40440	-0.9563	9	0.87932	D	0	.	4.9836	0.14178	0.1739:0.0:0.8261:0.0	.	476	Q8TD90	MAGE2_HUMAN	M	476	ENSP00000362457:I476M	ENSP00000362457:I476M	I	-	3	3	MAGEE2	74920184	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	1.349000	0.33998	0.575000	0.29434	0.417000	0.27973	ATC		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		14	151	0	0	0	0.001855	0	14	151				
GPRASP1	9737	broad.mit.edu	37	X	101909157	101909157	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:101909157T>A	ENST00000361600.5	+	5	1117	c.316T>A	c.(316-318)Tct>Act	p.S106T	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S106T|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S106T|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S106T	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	106					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S106T(1)		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						TGAAAGATTGTCTAAGACAGA	0.473																																							uc004ejj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(316-318)TCT>ACT		G protein-coupled receptor associated sorting							124.0	121.0	122.0					X																	101909157		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909157T>A	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.316T>A	X.37:g.101909157T>A	ENSP00000355146:p.Ser106Thr					GPRASP1_uc004eji.3_Missense_Mutation_p.S106T|GPRASP1_uc010nod.2_Missense_Mutation_p.S106T	p.S106T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	1117	+			106					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.316T>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	5.058	0.196296	0.09599	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	1.98	0.789	0.18607	.	.	.	.	.	T	0.07413	0.0187	L	0.46157	1.445	0.09310	N	1	P	0.43633	0.813	B	0.35312	0.2	T	0.30327	-0.9982	9	0.29301	T	0.29	4.7188	4.0675	0.09868	0.0:0.408:0.0:0.592	.	106	Q5JY77	GASP1_HUMAN	T	106	ENSP00000393691:S106T;ENSP00000409420:S106T;ENSP00000355146:S106T;ENSP00000445683:S106T	ENSP00000355146:S106T	S	+	1	0	GPRASP1	101795813	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.325000	0.19628	0.135000	0.18707	0.242000	0.17961	TCT		0.473	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		105	282	0	0	0	0.01441	0	105	282				
NUP62CL	54830	broad.mit.edu	37	X	106391025	106391025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:106391025G>T	ENST00000372466.4	-	8	796	c.545C>A	c.(544-546)gCa>gAa	p.A182E	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	182					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.A182E(1)		lung(4)	4						TCAGAATTCTGCAGATCTGGT	0.358																																							uc004ena.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GCA>GAA		nucleoporin 62kDa C-terminal like							84.0	77.0	80.0					X																	106391025		2202	4300	6502	SO:0001583	missense	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106391025G>T	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.545C>A	X.37:g.106391025G>T	ENSP00000361544:p.Ala182Glu					NUP62CL_uc004enb.2_RNA	p.A182E	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			8	804	-			182					D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	c.545C>A	CCDS14527.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.31|14.31|14.31	2.496109|2.496109|2.496109	0.44352|0.44352|0.44352	.|.|.	.|.|.	ENSG00000198088|ENSG00000198088|ENSG00000198088	ENST00000372466|ENST00000372465|ENST00000432145	T|.|.	0.48836|.|.	0.8|.|.	4.66|4.66|4.66	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|0.045927|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.13072|.|0.13072	0.0317|.|0.0317	N|N|N	0.00321|0.00321|0.00321	-1.65|-1.65|-1.65	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.74674|.|.	0.984|.|.	T|.|T	0.07654|.|0.07654	-1.0761|.|-1.0761	9|.|5	0.51188|0.12766|.	T|T|.	0.08|0.61|.	-3.345|-3.345|-3.345	9.6943|9.6943|9.6943	0.40147|0.40147|0.40147	0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0	.|.|.	182|.|.	Q9H1M0|.|.	N62CL_HUMAN|.|.	E|X|K	182|219|151	ENSP00000361544:A182E|.|.	ENSP00000361544:A182E|ENSP00000361543:C219X|.	A|C|Q	-|-|-	2|3|1	0|2|0	NUP62CL|NUP62CL|NUP62CL	106277681|106277681|106277681	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.960000|0.960000|0.960000	0.40013|0.40013|0.40013	0.135000|0.135000|0.135000	0.20990|0.20990|0.20990	1.206000|1.206000|1.206000	0.32321|0.32321|0.32321	0.888000|0.888000|0.888000	0.36160|0.36160|0.36160	0.422000|0.422000|0.422000	0.28245|0.28245|0.28245	GCA|TGC|CAG		0.358	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		18	54	1	0	2.54575e-18	0.010504	2.87896e-18	18	54				
CAPN6	827	broad.mit.edu	37	X	110494845	110494845	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:110494845C>T	ENST00000324068.1	-	6	992	c.825G>A	c.(823-825)gaG>gaA	p.E275E	CAPN6_ENST00000541758.1_Silent_p.E20E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	275	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.E275E(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TATACACCTTCTCAGCACTGA	0.473																																							uc004epc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(823-825)GAG>GAA		calpain 6							254.0	254.0	254.0					X																	110494845		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494845C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.825G>A	X.37:g.110494845C>T						CAPN6_uc011msu.1_Silent_p.E20E	p.E275E	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	993	-			275			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.825G>A	CCDS14555.1																																																																																				0.473	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			61	667	0	0	0	0.01441	0	61	667				
CUL4B	8450	broad.mit.edu	37	X	119660694	119660694	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:119660694C>G	ENST00000404115.3	-	22	3065	c.2664G>C	c.(2662-2664)aaG>aaC	p.K888N	CUL4B_ENST00000371322.5_Missense_Mutation_p.K870N|CUL4B_ENST00000336592.6_Missense_Mutation_p.K875N	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	888					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K888N(1)|p.K870N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTCTATTCTCTTCTTAAGAT	0.353																																							uc004esw.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2662-2664)AAG>AAC		cullin 4B isoform 1							170.0	146.0	154.0					X																	119660694		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:119660694C>G	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.2664G>C	X.37:g.119660694C>G	ENSP00000384109:p.Lys888Asn					CUL4B_uc010nqq.2_Missense_Mutation_p.K589N|CUL4B_uc004esv.2_Missense_Mutation_p.K870N	p.K888N	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			22	3101	-			888					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2664G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125402	0.56721	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.72942	-0.7;-0.7;-0.7	5.66	4.79	0.61399	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	M	0.93854	3.465	0.80722	D	1	D;D;D	0.76494	0.979;0.999;0.999	P;D;D	0.74348	0.856;0.983;0.971	D	0.89944	0.4075	9	.	.	.	-12.14	13.088	0.59153	0.0:0.9201:0.0:0.0799	.	692;888;870	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	N	870;875;888	ENSP00000360373:K870N;ENSP00000338919:K875N;ENSP00000384109:K888N	.	K	-	3	2	CUL4B	119544722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.669000	0.68081	2.376000	0.81061	0.594000	0.82650	AAG		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		3	126	0	0	0	0.004672	0	3	126				
TMEM185A	84548	broad.mit.edu	37	X	148692995	148692995	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:148692995C>T	ENST00000316916.8	-	2	494	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	TMEM185A_ENST00000507237.1_Missense_Mutation_p.V64I|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	64						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.V64I(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CGTGCCCAGACTCCAGTTCCA	0.438																																							uc011mxq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)GTC>ATC		transmembrane protein 185A							244.0	234.0	237.0					X																	148692995		2203	4299	6502	SO:0001583	missense	84548					integral to membrane		g.chrX:148692995C>T	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.190G>A	X.37:g.148692995C>T	ENSP00000359449:p.Val64Ile					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_5'Flank	p.V64I	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			3	501	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		64					B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.190G>A	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836217	0.91117	.	.	ENSG00000155984	ENST00000316916;ENST00000507237	T;T	0.23754	1.89;1.89	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.66939	2.045	0.80722	D	1	P	0.52463	0.953	P	0.54174	0.744	T	0.30119	-0.9989	10	0.41790	T	0.15	.	16.2802	0.82672	0.0:1.0:0.0:0.0	.	64	Q8NFB2	T185A_HUMAN	I	64	ENSP00000359449:V64I;ENSP00000427766:V64I	ENSP00000359449:V64I	V	-	1	0	TMEM185A	148500796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.599000	0.67592	2.040000	0.60383	0.594000	0.82650	GTC		0.438	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		6	598	0	0	0	0.001168	0	6	598				
TKTL1	8277	broad.mit.edu	37	X	153539356	153539356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153539356C>G	ENST00000369915.3	+	4	709	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	TKTL1_ENST00000369912.2_Missense_Mutation_p.Q118E|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	174					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)	p.Q174E(1)		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)					AAACATCTATCAGAGGCGCTG	0.507																																							uc004fkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(520-522)CAG>GAG		transketolase-like 1 isoform a							116.0	100.0	105.0					X																	153539356		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539356C>G	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.520C>G	X.37:g.153539356C>G	ENSP00000358931:p.Gln174Glu					TKTL1_uc011mzl.1_Missense_Mutation_p.Q168E|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.Q118E	p.Q174E	NM_012253	NP_036385	P51854	TKTL1_HUMAN			4	706	+	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)		174					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.520C>G	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.412|2.412	-0.335038|-0.335038	0.05278|0.05278	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912|ENST00000426203	T;T;T|.	0.28895|.	1.59;1.59;1.59|.	4.29|4.29	3.41|3.41	0.39046|0.39046	Transketolase, N-terminal (1);|.	0.313424|.	0.29948|.	N|.	0.010785|.	T|.	0.52008|.	0.1708|.	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	B;B|.	0.14805|.	0.011;0.011|.	B;B|.	0.17979|.	0.02;0.02|.	T|.	0.41858|.	-0.9485|.	10|.	0.24483|.	T|.	0.36|.	-17.3537|-17.3537	10.0193|10.0193	0.42033|0.42033	0.364:0.636:0.0:0.0|0.364:0.636:0.0:0.0	.|.	168;174|.	B7Z7I0;P51854|.	.;TKTL1_HUMAN|.	E|X	174;118;174;118|156	ENSP00000358931:Q174E;ENSP00000401111:Q174E;ENSP00000358928:Q118E|.	ENSP00000358928:Q118E|.	Q|S	+|+	1|2	0|0	TKTL1|TKTL1	153192550|153192550	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.110000|0.110000	0.19582|0.19582	2.050000|2.050000	0.41297|0.41297	0.912000|0.912000	0.36772|0.36772	-0.353000|-0.353000	0.07706|0.07706	CAG|TCA		0.507	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		14	131	0	0	0	0.00245	0	14	131				
ATP6AP1	537	broad.mit.edu	37	X	153664138	153664138	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153664138C>T	ENST00000369762.2	+	10	1375	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	438					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.F438F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					TCATGCTCTTCATCTTCACCT	0.547																																							uc004flf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1312-1314)TTC>TTT		ATPase, H+ transporting, lysosomal accessory							231.0	211.0	218.0					X																	153664138		2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153664138C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1314C>T	X.37:g.153664138C>T						ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.F398F|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	p.F438F	NM_001183	NP_001174	Q15904	VAS1_HUMAN			10	1375	+	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)		438			Helical; (Potential).		A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.1314C>T	CCDS35451.1																																																																																				0.547	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		9	618	0	0	0	0.004482	0	9	618				
GAB3	139716	broad.mit.edu	37	X	153944516	153944516	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153944516C>T	ENST00000369575.3	-	2	192	c.161G>A	c.(160-162)aGc>aAc	p.S54N	GAB3_ENST00000424127.2_Missense_Mutation_p.S54N|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)			p.S54N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATGGGCTTGCTGGAGTGCTT	0.562																																							uc004fmj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)AGC>AAC		Gab3 protein isoform 2							80.0	73.0	75.0					X																	153944516		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153944516C>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.161G>A	X.37:g.153944516C>T	ENSP00000358588:p.Ser54Asn					GAB3_uc004fmk.1_Missense_Mutation_p.S54N|GAB3_uc010nve.1_Missense_Mutation_p.S54N|GAB3_uc004fml.1_5'UTR	p.S54N	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			2	209	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		54			PH.		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.161G>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323849	0.41096	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.76709	-1.04;-1.04;-1.04	5.04	1.65	0.23941	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.365437	0.34386	N	0.004001	T	0.62011	0.2393	L	0.38953	1.18	0.23636	N	0.997231	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.16722	0.016;0.016;0.016	T	0.50931	-0.8769	10	0.45353	T	0.12	-8.2867	2.7636	0.05314	0.0:0.3409:0.2398:0.4193	.	54;54;54	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	54	ENSP00000358588:S54N;ENSP00000358581:S54N;ENSP00000399588:S54N	ENSP00000358581:S54N	S	-	2	0	GAB3	153597710	1.000000	0.71417	0.900000	0.35374	0.909000	0.53808	2.712000	0.47186	0.331000	0.23511	0.529000	0.55759	AGC		0.562	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		8	176	0	0	0	0.006214	0	8	176				
ETV6	2120	broad.mit.edu	37	12	12037505	12037506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:12037505_12037506delTG	ENST00000396373.4	+	6	1410_1411	c.1136_1137delTG	c.(1135-1137)ctgfs	p.L379fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	379					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGGCTCGACTGTGGGGAAACC	0.46			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																		uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(1135-1137)CTGfs		ets variant 6																																				SO:0001589	frameshift_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037505_12037506delTG	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1136_1137delTG	12.37:g.12037507_12037508delTG	ENSP00000379658:p.Leu379fs					ETV6_uc001raa.1_Intron	p.L379fs	NM_001987	NP_001978	P41212	ETV6_HUMAN			6	1410_1411	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	379			ETS.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	ENST00000396373.4	37	c.1136_1137delTG	CCDS8643.1																																																																																				0.460	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		9	157	NA	NA	NA	NA	NA	9	157	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578397	7578412	+	Frame_Shift_Del	DEL	TGGGGGCAGCGCCTCA	TGGGGGCAGCGCCTCA	-	rs138729528|rs28934578|rs147002414		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	TGGGGGCAGCGCCTCA	TGGGGGCAGCGCCTCA	-	-	TGGGGGCAGCGCCTCA	TGGGGGCAGCGCCTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:7578397_7578412delTGGGGGCAGCGCCTCA	ENST00000269305.4	-	5	707_722	c.518_533delTGAGGCGCTGCCCCCA	c.(517-534)gtgaggcgctgcccccacfs	p.VRRCPH173fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VRRCPH173fs	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R175H(847)|p.C176F(129)|p.C176Y(63)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.H178fs*69(19)|p.R175C(19)|p.R175L(19)|p.C176S(18)|p.P177R(18)|p.P177L(17)|p.C176*(12)|p.V173A(12)|p.R174W(12)|p.C176W(11)|p.P177P(10)|p.C83F(9)|p.C44F(9)|p.C176R(8)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.V173V(8)|p.0?(8)|p.H178D(7)|p.C176fs*71(7)|p.C176G(6)|p.H178fs*3(6)|p.H178P(6)|p.V173G(6)|p.R175P(6)|p.R175S(5)|p.R174fs*73(4)|p.R175R(4)|p.R174K(4)|p.C176_R181delCPHHER(3)|p.V173fs*7(3)|p.H178_S183delHHERCS(3)|p.C83Y(3)|p.H178N(3)|p.R82G(3)|p.P177H(3)|p.R43G(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.C44Y(3)|p.C176fs*5(3)|p.C83*(2)|p.R174fs*1(2)|p.R175fs*5(2)|p.P177fs*3(2)|p.R174M(2)|p.R82C(2)|p.R43C(2)|p.H85fs*69(2)|p.H46fs*>45(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.C44*(2)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.R175_H178>X(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.C83G(1)|p.H178L(1)|p.R174fs*3(1)|p.R174fs*7(1)|p.V157_C176del20(1)|p.R81W(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.C176del(1)|p.H178del(1)|p.P177I(1)|p.P177T(1)|p.S149fs*72(1)|p.R174_H178>S(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.H179del(1)|p.V173E(1)|p.P177fs*69(1)|p.V173W(1)|p.R42fs*24(1)|p.R175fs*72(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.H85_S90delHHERCS(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.P151_V173del23(1)|p.V80fs*7(1)|p.H46D(1)|p.C44G(1)|p.H85D(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.R174G(1)|p.R42W(1)|p.R81fs*24(1)|p.V41fs*7(1)|p.H46_S51delHHERCS(1)|p.C176fs*6(1)|p.P84R(1)|p.P177_H179delPHH(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)	GCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGT	0.644	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		1540	Substitution - Missense(1379)|Deletion - Frameshift(64)|Deletion - In frame(32)|Substitution - coding silent(24)|Substitution - Nonsense(16)|Insertion - Frameshift(14)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.R175H(729)|p.C176F(102)|p.C176Y(55)|p.V173L(50)|p.V173M(39)|p.R175L(19)|p.C176S(18)|p.P177L(17)|p.P177R(15)|p.H178fs*69(13)|p.R175C(12)|p.C176W(11)|p.R175G(11)|p.P177P(10)|p.C176R(8)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.V173A(8)|p.V173V(8)|p.R174W(8)|p.C176fs*71(7)|p.0?(7)|p.H178P(6)|p.C176*(6)|p.V173G(6)|p.H178fs*3(5)|p.R175S(5)|p.R43H(5)|p.R175P(5)|p.R82H(5)|p.R174fs*73(4)|p.H178D(4)|p.R175R(4)|p.V173fs*1(4)|p.R174K(4)|p.C176_R181delCPHHER(3)|p.C176G(3)|p.H178N(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R174fs*1(2)|p.R175fs*5(2)|p.P177fs*3(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.R175_H178>X(1)|p.V173fs*8(1)|p.C83Y(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.H178L(1)|p.R174fs*3(1)|p.R174fs*7(1)|p.V157_C176del20(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.C176del(1)|p.S149fs*72(1)|p.P177I(1)|p.P177T(1)|p.K164_P219del(1)|p.H178del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.H179del(1)|p.V173E(1)|p.P177fs*69(1)|p.V173W(1)|p.R42fs*24(1)|p.R175fs*72(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.P151_V173del23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.R174G(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.P177_H179delPHH(1)	large_intestine(450)|breast(156)|lung(121)|upper_aerodigestive_tract(118)|oesophagus(104)|stomach(96)|central_nervous_system(95)|ovary(92)|haematopoietic_and_lymphoid_tissue(76)|liver(47)|urinary_tract(37)|prostate(27)|skin(21)|endometrium(19)|pancreas(18)|biliary_tract(17)|bone(17)|cervix(7)|vulva(4)|kidney(4)|genital_tract(4)|soft_tissue(3)|thyroid(2)|adrenal_gland(2)|salivary_gland(2)|penis(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD983489|CM011013|CM062017|CM942119|CM951224	TP53	D|M	rs138729528|rs28934578|rs68130327	c.(517-534)GTGAGGCGCTGCCCCCACfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578397_7578412delTGGGGGCAGCGCCTCA	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.518_533delTGAGGCGCTGCCCCCA	17.37:g.7578397_7578412delTGGGGGCAGCGCCTCA	ENSP00000269305:p.Val173fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.V173fs|TP53_uc002gih.2_Frame_Shift_Del_p.V173fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V41fs|TP53_uc010cng.1_Frame_Shift_Del_p.V41fs|TP53_uc002gii.1_Frame_Shift_Del_p.V41fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V173fs|TP53_uc010cni.1_Frame_Shift_Del_p.V173fs|TP53_uc002gij.2_Frame_Shift_Del_p.V173fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.V80fs|TP53_uc002gio.2_Frame_Shift_Del_p.V41fs|TP53_uc010vug.1_Frame_Shift_Del_p.V134fs	p.V173fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	712_727	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173_178		H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.518_533delTGAGGCGCTGCCCCCA	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	43	NA	NA	NA	NA	NA	9	43	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68484822	68484822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:68484822delC	ENST00000322244.5	-	33	3111	c.3052delG	c.(3052-3054)gaafs	p.E1018fs		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	1018					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)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TATTTCTTTTCAGTAGTAGGT	0.338																																							uc003hdg.3		NA																	0					0						c.(3052-3054)GAAfs		ubiquitin-activating enzyme E1-like 2							131.0	131.0	131.0					4																	68484822		2203	4300	6503	SO:0001589	frameshift_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68484822delC	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.3052delG	4.37:g.68484822delC	ENSP00000313454:p.Glu1018fs						p.E1018fs	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			33	3104	-			1018					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	ENST00000322244.5	37	c.3052delG	CCDS3516.1																																																																																				0.338	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		10	112	NA	NA	NA	NA	NA	10	112	---	---	---	---
APC	324	broad.mit.edu	37	5	112175532	112175533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:112175532_112175533insA	ENST00000457016.1	+	16	4621_4622	c.4241_4242insA	c.(4240-4245)gtaagtfs	p.S1415fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.S1415fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.S1415fs			P25054	APC_HUMAN	adenomatous polyposis coli	1415	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1415fs*8(3)|p.V1414fs*5(2)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.S1415fs*4(1)|p.V1414fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTGGAATGGTAAGTGGCATTA	0.47		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		13	Deletion - Frameshift(9)|Insertion - Frameshift(3)|Unknown(1)	p.V1414fs*1(8)|p.V1414fs*9(6)|p.S1415fs*8(2)|p.V1414I(1)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*5(1)|p.S1415fs*4(1)|p.V1414fs*3(1)	large_intestine(11)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4240-4242)GTAfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175532_112175533insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4243dupA	5.37:g.112175534_112175534dupA	ENSP00000413133:p.Ser1415fs	TSP Lung(16;0.13)				APC_uc011cvt.1_Frame_Shift_Ins_p.V1396fs|APC_uc003kpz.3_Frame_Shift_Ins_p.V1414fs|APC_uc003kpy.3_Frame_Shift_Ins_p.V1414fs|APC_uc010jbz.2_Frame_Shift_Ins_p.V1131fs|APC_uc010jca.2_Frame_Shift_Ins_p.V714fs	p.V1414fs	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4621_4622	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1414			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.4241_4242insA	CCDS4107.1																																																																																				0.470	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	82	NA	NA	NA	NA	NA	13	82	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242480	55242503	+	In_Frame_Del	DEL	AACATCTCCGAAAGCCAACAAGGA	AACATCTCCGAAAGCCAACAAGGA	-	rs121913438|rs397517102|rs121913464|rs397517100|rs397517099|rs121913423|rs121913422|rs397517101|rs121913426|rs121913425|rs121913424|rs559717059|rs397509368|rs121913231|rs121913463|rs121913437|rs121913441|rs121913440|rs121913442		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	AACATCTCCGAAAGCCAACAAGGA	AACATCTCCGAAAGCCAACAAGGA	-	-	AACATCTCCGAAAGCCAACAAGGA	AACATCTCCGAAAGCCAACAAGGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:55242480_55242503delAACATCTCCGAAAGCCAACAAGGA	ENST00000275493.2	+	19	2427_2450	c.2250_2273delAACATCTCCGAAAGCCAACAAGGA	c.(2248-2274)gcaacatctccgaaagccaacaaggaa>gca	p.TSPKANKE751del	EGFR_ENST00000455089.1_In_Frame_Del_p.TSPKANKE706del|EGFR_ENST00000454757.2_In_Frame_Del_p.TSPKANKE698del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.		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)	p.E746_A750del(358)|p.L747_P753>S(123)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.S752_I759del(13)|p.T751_I759>N(8)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_T751>V(6)|p.E746_S752>A(6)|p.T751I(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.T751_I759>S(3)|p.L747_S752>Q(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.K754E(2)|p.L747_S752>QH(2)|p.T751_I759del(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.S752P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>VS(2)|p.P753S(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.P753_I759del(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.A755A(1)|p.K754R(1)|p.E758G(1)|p.K757>NK(1)|p.K754K(1)|p.L747_T751>A(1)|p.K754I(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.K757R(1)|p.A750_E758del(1)|p.S752Y(1)|p.N756Y(1)|p.L747_A750>P(1)|p.K754A(1)|p.T751_I759>REA(1)|p.N756S(1)|p.E746_P753>LS(1)|p.T751_E758del(1)|p.K757M(1)		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)	TAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGAT	0.496	L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN)	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		831	Deletion - In frame(496)|Complex - deletion inframe(309)|Substitution - Missense(21)|Substitution - coding silent(4)|Complex - insertion inframe(1)	p.E746_A750del(313)|p.L747_P753>S(166)|p.L747_T751del(114)|p.E746_S752>V(67)|p.L747_S752del(64)|p.L747_T751>P(33)|p.E746_T751>A(30)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.E746_T751del(18)|p.L747_T751>S(12)|p.S752_I759del(12)|p.E746_S752del(10)|p.T751_I759>N(8)|p.L747_T751>Q(7)|p.E746_P753>VS(6)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.T751I(5)|p.S752P(4)|p.E746_S752>D(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.P753S(3)|p.E746_T751>VP(3)|p.L747_S752>QH(2)|p.E746_T751>L(2)|p.A750_K757del(2)|p.L747_T751>A(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_S752>T(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.L747_S752>QR(1)|p.K754E(1)|p.P753P(1)|p.L747_K754>GC(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.A755A(1)|p.L747_S752>V(1)|p.R748_S752del(1)|p.K757>NK(1)|p.K754K(1)|p.L747_T751>F(1)|p.E749_P753>Q(1)|p.T751_E758>A(1)|p.R748_P753del(1)|p.E746_P753>VQ(1)|p.L747_P753>CG(1)|p.E746_T751>LS(1)|p.L747_T751>N(1)|p.L747_A755>SKS(1)|p.E746_T751>P(1)|p.L747_K754del(1)|p.L747_N756>SKDD(1)|p.S752Y(1)|p.N756Y(1)|p.K754A(1)|p.T751_I759>REA(1)|p.N756S(1)|p.E746_P753>LS(1)|p.K757M(1)	lung(808)|breast(4)|salivary_gland(3)|upper_aerodigestive_tract(2)|thyroid(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|oesophagus(2)|prostate(2)|central_nervous_system(1)|large_intestine(1)|biliary_tract(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2248-2274)GCAACATCTCCGAAAGCCAACAAGGAA>GCA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	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.chr7:55242480_55242503delAACATCTCCGAAAGCCAACAAGGA		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.2250_2273delAACATCTCCGAAAGCCAACAAGGA	7.37:g.55242480_55242503delAACATCTCCGAAAGCCAACAAGGA	ENSP00000275493:p.Thr751_Glu758del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.TSPKANKE706del|EGFR_uc011kco.1_In_Frame_Del_p.TSPKANKE698del	p.TSPKANKE751del	NM_005228	NP_005219	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)		19	2496_2519	+	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)		751_758		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2250_2273delAACATCTCCGAAAGCCAACAAGGA	CCDS5514.1																																																																																				0.496	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		31	147	NA	NA	NA	NA	NA	31	147	---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90937445	90937445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:90937445delG	ENST00000297438.2	+	6	1558	c.1203delG	c.(1201-1203)aagfs	p.K402fs	OSGIN2_ENST00000451899.2_Frame_Shift_Del_p.K446fs	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	402					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGGATTGAAGAAAATATTTA	0.408																																							uc003yeg.2		NA																	0					0						c.(1201-1203)AAGfs		oxidative stress induced growth inhibitor family							99.0	102.0	101.0					8																	90937445		2203	4300	6503	SO:0001589	frameshift_variant	734				germ cell development|meiosis			g.chr8:90937445delG	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1203delG	8.37:g.90937445delG	ENSP00000297438:p.Lys402fs					OSGIN2_uc003yeh.2_Frame_Shift_Del_p.K445fs	p.K401fs	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	1549	+			401						Frame_Shift_Del	DEL	ENST00000297438.2	37	c.1203delG	CCDS6248.1																																																																																				0.408	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		22	186	NA	NA	NA	NA	NA	22	186	---	---	---	---
