#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ABCA4	24	broad.mit.edu	37	1	94463458	94463458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:94463458G>A	ENST00000370225.3	-	48	6774	c.6688C>T	c.(6688-6690)Ctc>Ttc	p.L2230F	ABCA4_ENST00000535881.1_Missense_Mutation_p.L349F|ABCA4_ENST00000536513.1_Missense_Mutation_p.L500F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2230					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCGATGAGCAGGCTGTCC	0.592																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6688-6690)Ctc>Ttc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							138.0	105.0	116.0					1																	94463458		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463458G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6688C>T	1.37:g.94463458G>A	ENSP00000359245:p.Leu2230Phe						p.L2230F	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6792	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2230					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6688C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503267	0.12822	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	T;T;T	0.74737	-0.87;-0.87;-0.87	5.39	0.937	0.19494	.	17.037100	0.00166	N	0.000001	T	0.39036	0.1063	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.51180	-0.8738	10	0.22109	T	0.4	.	4.2851	0.10851	0.3073:0.0:0.3979:0.2949	.	2230	P78363	ABCA4_HUMAN	F	1022;2230;500;349	ENSP00000359245:L2230F;ENSP00000439707:L500F;ENSP00000443203:L349F	ENSP00000359245:L2230F	L	-	1	0	ABCA4	94236046	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	0.564000	0.23563	0.661000	0.30985	0.563000	0.77884	CTC		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:145324371T>C	ENST00000342960.5	+	28	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3565-3567)gTa>gCa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145324371T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3566T>C	1.37:g.145324371T>C	ENSP00000345684:p.Val1189Ala					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript	p.V1189A	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	27	3601	+	all_hematologic(923;0.032)		1189					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3566T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.402480	0.00195	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01189	0.0039	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.07482	T	0.82	.	.	.	.	.	.	.	.	A	1189	ENSP00000345684:V1189A	ENSP00000345684:V1189A	V	+	2	0	NBPF10	144035728	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.639000	0.02011	0.493000	0.27837	0.000000	0.15137	GTA		0.498	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
OPTC	26254	broad.mit.edu	37	1	203472741	203472741	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:203472741C>T	ENST00000367222.2	+	7	1008	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	298					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAACACACCCGCAGGCAGCT	0.587																																						uc001gzu.1																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(892-894)Cgc>Tgc		Homo sapiens opticin (OPTC), mRNA.							110.0	104.0	106.0					1																	203472741		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472741C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.892C>T	1.37:g.203472741C>T	ENSP00000356191:p.Arg298Cys						p.R298C	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		6	1008	+			298					Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.892C>T	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896349	0.72639	.	.	ENSG00000188770	ENST00000367222	T	0.02280	4.36	3.94	3.0	0.34707	.	0.000000	0.64402	D	0.000005	T	0.06962	0.0177	L	0.45352	1.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.21381	-1.0247	10	0.54805	T	0.06	-21.832	9.7494	0.40466	0.3746:0.6254:0.0:0.0	.	298	Q9UBM4	OPT_HUMAN	C	298	ENSP00000356191:R298C	ENSP00000356191:R298C	R	+	1	0	OPTC	201739364	0.989000	0.36119	0.167000	0.22817	0.736000	0.42039	1.862000	0.39448	0.832000	0.34804	0.505000	0.49811	CGC		0.587	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	
PIGR	5284	broad.mit.edu	37	1	207109154	207109154	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:207109154A>T	ENST00000356495.4	-	5	1238	c.1055T>A	c.(1054-1056)aTt>aAt	p.I352N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	352	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGGGAATCGTGGACTC	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1054-1056)aTt>aAt		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							23.0	26.0	25.0					1																	207109154		2201	4299	6500	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207109154A>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1055T>A	1.37:g.207109154A>T	ENSP00000348888:p.Ile352Asn		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.3_Missense_Mutation_p.I352N	p.I352N	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1239	-			352			Ig-like V-type 3.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1055T>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726344	0.69074	.	.	ENSG00000162896	ENST00000356495	T	0.04275	3.66	5.55	5.55	0.83447	.	1.014150	0.07881	N	0.969449	T	0.20740	0.0499	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.18366	-1.0339	10	0.72032	D	0.01	-22.5887	12.0823	0.53677	1.0:0.0:0.0:0.0	.	352	P01833	PIGR_HUMAN	N	352	ENSP00000348888:I352N	ENSP00000348888:I352N	I	-	2	0	PIGR	205175777	0.036000	0.19791	0.003000	0.11579	0.111000	0.19643	3.552000	0.53705	2.112000	0.64535	0.533000	0.62120	ATT		0.602	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	T	rs140529367		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:119003545C>T	ENST00000298472.5	+	3	328	c.185C>T	c.(184-186)aCg>aTg	p.T62M	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						uc001ldd.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(184-186)aCg>aTg		Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	C	MET/THR	0,4406		0,0,2203	85.0	74.0	78.0		185	5.8	1.0	10	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC18A2	NM_003054.4	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	62/515	119003545	3,13003	2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>T	10.37:g.119003545C>T	ENSP00000298472:p.Thr62Met					SLC18A2_uc009xyy.2_5'UTR	p.T62M	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	2	348	+		Colorectal(252;0.19)	62					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871047	0.33069	0.0	3.49E-4	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.11110	0.0271	L	0.32530	0.975	0.38217	D	0.940652	D	0.69078	0.997	P	0.56788	0.806	T	0.15009	-1.0452	10	0.33141	T	0.24	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	M	62	ENSP00000298472:T62M	ENSP00000298472:T62M	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
CLRN3	119467	broad.mit.edu	37	10	129682096	129682096	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:129682096C>T	ENST00000368671.3	-	2	435	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGATAGTCACCGAATGCAGAG	0.448																																						uc001lka.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(271-273)tcG>tcA		Homo sapiens clarin 3 (CLRN3), mRNA.							131.0	122.0	125.0					10																	129682096		2203	4300	6503	SO:0001819	synonymous_variant	119467					integral to membrane		g.chr10:129682096C>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.273G>A	10.37:g.129682096C>T						CLRN3_uc001ljz.1_Silent_p.S23S	p.S91S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN			1	436	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	91					Q6MZX8	Silent	SNP	ENST00000368671.3	37	c.273G>A	CCDS7656.1																																																																																				0.448	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311	
OR51G1	79324	broad.mit.edu	37	11	4945520	4945520	+	Missense_Mutation	SNP	G	G	A	rs376397711		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4945520G>A	ENST00000321961.2	-	1	117	c.50C>T	c.(49-51)aCg>aTg	p.T17M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAAGCCCGTCAGGAAGAA	0.458																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(49-51)aCg>aTg		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.		G	MET/THR	0,4402		0,0,2201	56.0	54.0	55.0		50	1.3	0.9	11		55	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51G1	NM_001005237.1	81	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	17/322	4945520	1,12997	2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945520G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.50C>T	11.37:g.4945520G>A	ENSP00000322546:p.Thr17Met						p.T17M	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	50	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	17					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.50C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	4.192	0.034282	0.08101	0.0	1.16E-4	ENSG00000176879	ENST00000321961	T	0.00301	8.21	4.32	1.28	0.21552	.	0.175198	0.27245	U	0.020246	T	0.00144	0.0004	L	0.38953	1.18	0.21527	N	0.999659	B	0.31100	0.308	B	0.19391	0.025	T	0.39354	-0.9618	10	0.51188	T	0.08	.	8.9735	0.35921	0.3533:0.0:0.6467:0.0	.	17	Q8NGK1	O51G1_HUMAN	M	17	ENSP00000322546:T17M	ENSP00000322546:T17M	T	-	2	0	OR51G1	4902096	0.000000	0.05858	0.893000	0.35052	0.262000	0.26303	-0.465000	0.06680	0.123000	0.18342	-1.151000	0.01829	ACG		0.458	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR51A2	401667	broad.mit.edu	37	11	4976936	4976936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4976936A>G	ENST00000380371.1	-	1	7	c.8T>C	c.(7-9)aTt>aCt	p.I3T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTTGATAATGGACATGAT	0.428																																						uc010qyt.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(7-9)aTt>aCt		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							49.0	49.0	49.0					11																	4976936		2166	4279	6445	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976936A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.8T>C	11.37:g.4976936A>G	ENSP00000369729:p.Ile3Thr						p.I3T	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	8	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	3						Missense_Mutation	SNP	ENST00000380371.1	37	c.8T>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	0.450	-0.894244	0.02491	.	.	ENSG00000205496	ENST00000380371	T	0.00333	8.07	2.58	0.18	0.15068	.	.	.	.	.	T	0.00144	0.0004	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05835	-1.0861	9	0.17369	T	0.5	.	4.3154	0.10991	0.6512:0.0:0.3488:0.0	.	3	Q8NGJ7	O51A2_HUMAN	T	3	ENSP00000369729:I3T	ENSP00000369729:I3T	I	-	2	0	OR51A2	4933512	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.430000	0.02434	0.223000	0.20920	0.403000	0.27427	ATT		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:60161321G>A	ENST00000300184.3	+	7	906	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000395005.2_5'Flank|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000300187.6_5'Flank	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373																																						uc001npe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(709-711)cGg>cAg		Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.							101.0	100.0	100.0					11																	60161321		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161321G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.710G>A	11.37:g.60161321G>A	ENSP00000300184:p.Arg237Gln					MS4A7_uc001npf.3_Missense_Mutation_p.R237Q|MS4A7_uc001npg.3_Missense_Mutation_p.R192Q|MS4A7_uc001nph.3_Missense_Mutation_p.R192Q|MS4A14_uc001npi.3_Intron	p.R237Q	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			6	855	+			237					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.710G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622277	0.14193	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.17213	3.05;2.29;2.29	3.58	-6.55	0.01854	.	13.363400	0.00777	N	0.001246	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27191	-1.0081	10	0.12430	T	0.62	-18.0862	7.1042	0.25354	0.4651:0.0:0.4238:0.1112	.	192;237	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	Q	237;192;192	ENSP00000300184:R237Q;ENSP00000350983:R192Q;ENSP00000434637:R192Q	ENSP00000300184:R237Q	R	+	2	0	MS4A7	59917897	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.122000	0.10627	-1.935000	0.01049	-1.583000	0.00853	CGG		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
VWCE	220001	broad.mit.edu	37	11	61032003	61032003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:61032003G>A	ENST00000335613.5	-	19	2572	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	VWCE_ENST00000535710.1_Missense_Mutation_p.A194V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	729	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGGGTCGGCACAGGCCCG	0.592																																						uc001nra.3																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2185-2187)gCc>gTc		Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.							51.0	44.0	46.0					11																	61032003		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61032003G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2186C>T	11.37:g.61032003G>A	ENSP00000334186:p.Ala729Val					VWCE_uc001nrb.3_Non-coding_Transcript	p.A729V	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			18	2465	-			729			VWFC 6.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2186C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	7.538	0.660188	0.14645	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.72725	-0.68;-0.68	4.76	2.89	0.33648	von Willebrand factor, type C (4);	0.807723	0.10258	N	0.696358	T	0.61311	0.2337	L	0.39397	1.21	0.09310	N	1	B	0.23650	0.089	B	0.29077	0.098	T	0.49437	-0.8940	10	0.26408	T	0.33	.	8.1142	0.30933	0.1893:0.0:0.8107:0.0	.	729	Q96DN2	VWCE_HUMAN	V	729;194	ENSP00000334186:A729V;ENSP00000442570:A194V	ENSP00000334186:A729V	A	-	2	0	VWCE	60788579	0.041000	0.20044	0.000000	0.03702	0.163000	0.22366	2.460000	0.45031	0.439000	0.26476	0.555000	0.69702	GCC		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
HTR3A	3359	broad.mit.edu	37	11	113857684	113857684	+	Missense_Mutation	SNP	G	G	A	rs528104456		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:113857684G>A	ENST00000504030.2	+	8	1499	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	HTR3A_ENST00000375498.2_Missense_Mutation_p.A358T|HTR3A_ENST00000299961.5_Missense_Mutation_p.A337T|HTR3A_ENST00000355556.2_Missense_Mutation_p.A390T|HTR3A_ENST00000535865.1_Missense_Mutation_p.A96T|HTR3A_ENST00000506841.2_Missense_Mutation_p.A384T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	352					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.A384T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GGAGAGAATCGCCTGGCTACT	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17996	0.0		0.0	False		,,,				2504	0.0					uc010rxb.2																			1	Substitution - Missense(1)	p.A384T(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1168-1170)Gcc>Acc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						47.0	45.0	46.0					11																	113857684		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857684G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1054G>A	11.37:g.113857684G>A	ENSP00000424189:p.Ala352Thr					HTR3A_uc010rxa.2_Missense_Mutation_p.A358T|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.A337T	p.A390T	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1401	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	352					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1168G>A		.	.	.	.	.	.	.	.	.	.	G	10.48	1.363142	0.24684	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85088	-1.94;-0.59;-1.94;-0.59;-1.94;-1.94	5.37	-1.01	0.10169	.	0.470449	0.25978	N	0.027093	T	0.74711	0.3752	L	0.39633	1.23	0.20074	N	0.999934	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.004;0.002;0.007	T	0.63216	-0.6687	10	0.66056	D	0.02	-21.0874	6.3549	0.21397	0.5467:0.0:0.326:0.1272	.	337;390;358	B4DSY6;G5E986;Q7KZM7	.;.;.	T	352;390;358;384;96;337	ENSP00000424189:A352T;ENSP00000347754:A390T;ENSP00000364648:A358T;ENSP00000424776:A384T;ENSP00000437776:A96T;ENSP00000299961:A337T	ENSP00000299961:A337T	A	+	1	0	HTR3A	113362894	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.015000	0.13355	-0.386000	0.07821	-0.254000	0.11334	GCC		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
HECTD4	283450	broad.mit.edu	37	12	112721040	112721040	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr12:112721040C>T	ENST00000430131.2	-	8	1365	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E324K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E324K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	74					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGGCAGATTCGCCCTCTTTT	0.433																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(970-972)Gaa>Aaa		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							107.0	96.0	100.0					12																	112721040		1890	4117	6007	SO:0001583	missense	283450							g.chr12:112721040C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.220G>A	12.37:g.112721040C>T	ENSP00000404379:p.Glu74Lys						p.E324K	NM_001109662	NP_001103132					7	1366	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.970G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.194523	0.94960	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51574	0.72;0.77;0.7	5.75	5.75	0.90469	.	.	.	.	.	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.44006	0.824	B	0.25140	0.058	T	0.34925	-0.9809	9	0.87932	D	0	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	74	Q9Y4D8	K0614_HUMAN	K	324;74;324	ENSP00000366783:E324K;ENSP00000404379:E74K;ENSP00000449784:E324K	ENSP00000366783:E324K	E	-	1	0	C12orf51	111205423	1.000000	0.71417	0.963000	0.40424	0.979000	0.70002	7.456000	0.80751	2.732000	0.93576	0.655000	0.94253	GAA		0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RB1	5925	broad.mit.edu	37	13	48951144	48951144	+	Nonsense_Mutation	SNP	C	C	T	rs4151534		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr13:48951144C>T	ENST00000267163.4	+	13	1444	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	436	Domain A.|Pocket; binds T and E1A.		Q -> K (in dbSNP:rs4151534). {ECO:0000269|Ref.7}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCTGTGGGACAGGGTTGTGT	0.353		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)|p.G435*(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CI030636	RB1	I	rs4151534	c.(1306-1308)Cag>Tag		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	120.0	117.0					13																	48951144		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951144C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1306C>T	13.37:g.48951144C>T	ENSP00000267163:p.Gln436*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.Q137*	p.Q436*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1472	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	436		Q -> K (in dbSNP:rs4151534).	Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1306C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634573	0.98403	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	0.057982	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	415;436	.	ENSP00000267163:Q436X	Q	+	1	0	RB1	47849145	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.809000	0.75211	2.814000	0.96858	0.591000	0.81541	CAG		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
VRTN	55237	broad.mit.edu	37	14	74825422	74825422	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr14:74825422A>G	ENST00000256362.4	+	2	2177	c.1936A>G	c.(1936-1938)Atc>Gtc	p.I646V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	646					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GATGGACATGATCGCTACCAC	0.617																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1936-1938)Atc>Gtc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							69.0	53.0	59.0					14																	74825422		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825422A>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1936A>G	14.37:g.74825422A>G	ENSP00000256362:p.Ile646Val					VRTN_uc001xpw.4_Missense_Mutation_p.I646V	p.I646V	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	1936	+			646					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1936A>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190784	0.01607	.	.	ENSG00000133980	ENST00000256362	T	0.40756	1.02	4.28	0.897	0.19258	.	0.350529	0.24686	U	0.036440	T	0.18002	0.0432	N	0.04508	-0.205	0.23758	N	0.99693	B	0.11235	0.004	B	0.06405	0.002	T	0.24190	-1.0167	10	0.10377	T	0.69	-11.8134	12.2008	0.54323	0.3852:0.6148:0.0:0.0	.	646	Q9H8Y1	VRTN_HUMAN	V	646	ENSP00000256362:I646V	ENSP00000256362:I646V	I	+	1	0	VRTN	73895175	1.000000	0.71417	0.454000	0.27019	0.097000	0.18754	3.356000	0.52269	0.012000	0.14892	0.397000	0.26171	ATC		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
ATP10A	57194	broad.mit.edu	37	15	25925003	25925003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:25925003G>A	ENST00000356865.6	-	21	4096	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1329					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCGGGAGGCGTCCCTGAGCA	0.607																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3985-3987)Cgc>Tgc		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							71.0	73.0	73.0					15																	25925003		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925003G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3985C>T	15.37:g.25925003G>A	ENSP00000349325:p.Arg1329Cys						p.R1329C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	4091	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1329					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3985C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101615	0.20632	.	.	ENSG00000206190	ENST00000356865	T	0.39997	1.05	5.79	0.756	0.18421	.	2.634810	0.01113	N	0.005604	T	0.25791	0.0628	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30650	-0.9971	10	0.42905	T	0.14	-0.325	11.4608	0.50208	0.3:0.0:0.7:0.0	.	1329	O60312	AT10A_HUMAN	C	1329	ENSP00000349325:R1329C	ENSP00000349325:R1329C	R	-	1	0	ATP10A	23476096	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.037000	0.30241	-0.100000	0.12241	-1.708000	0.00717	CGC		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
RASGRP1	10125	broad.mit.edu	37	15	38818585	38818585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:38818585G>A	ENST00000310803.5	-	3	418	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.R81*|RP11-275I4.1_ENST00000559544.1_RNA|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R132*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R81*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R33*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	81	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGTTACTTCGACACAGGTTT	0.458																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(241-243)Cga>Tga		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.							118.0	115.0	116.0					15																	38818585		1948	4140	6088	SO:0001587	stop_gained	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38818585G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.241C>T	15.37:g.38818585G>A	ENSP00000310244:p.Arg81*					RASGRP1_uc001zkd.4_Nonsense_Mutation_p.R81*	p.R81*	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	419	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	81			N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	c.241C>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013932	0.54468	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	4.62	4.62	0.57501	.	0.342954	0.31566	N	0.007436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1592	13.5185	0.61553	0.0:0.0:0.8435:0.1565	.	.	.	.	X	81;81;81;81;33;81;81	.	ENSP00000310244:R81X	R	-	1	2	RASGRP1	36605877	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.069000	0.41481	2.395000	0.81488	0.462000	0.41574	CGA		0.458	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
FAM86A	196483	broad.mit.edu	37	16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	rs537216471		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:5143514G>A	ENST00000427587.4	-	3	279	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R71W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	71						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19614	0.0		0.0	False		,,,				2504	0.001					uc002cyo.2																			0		p.A70P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(211-213)Cgg>Tgg		Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.							71.0	66.0	68.0					16																	5143514		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5143514G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.211C>T	16.37:g.5143514G>A	ENSP00000398502:p.Arg71Trp					FAM86A_uc002cyp.2_Missense_Mutation_p.R71W	p.R71W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			2	260	-			71					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.211C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120864	0.08881	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19669	2.13;2.13	4.06	2.07	0.26955	.	0.148508	0.42964	U	0.000627	T	0.06826	0.0174	N	0.01874	-0.695	0.09310	N	1	B;B	0.25850	0.136;0.017	B;B	0.14023	0.01;0.002	T	0.26573	-1.0099	10	0.54805	T	0.06	.	6.739	0.23424	0.2225:0.0:0.7775:0.0	.	71;71	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	71	ENSP00000389710:R71W;ENSP00000398502:R71W	ENSP00000398502:R71W	R	-	1	2	FAM86A	5083515	0.468000	0.25839	0.003000	0.11579	0.236000	0.25371	3.143000	0.50608	0.378000	0.24764	-0.463000	0.05309	CGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400	
DNAH3	55567	broad.mit.edu	37	16	20976074	20976074	+	Silent	SNP	C	C	T	rs149630157	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:20976074C>T	ENST00000261383.3	-	53	9131	c.9132G>A	c.(9130-9132)acG>acA	p.T3044T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3044					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCCCTAACGTGTGGCTGA	0.498																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9130-9132)acG>acA		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		C		7,4395	12.9+/-30.5	0,7,2194	75.0	67.0	70.0		9132	-11.2	0.0	16	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,7,6494	TT,TC,CC		0.0,0.159,0.0538		3044/4117	20976074	7,12995	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976074C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9132G>A	16.37:g.20976074C>T						DNAH3_uc010vbd.2_Silent_p.T479T	p.T3044T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	9132	-			3044					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9132G>A	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
KIFC3	3801	broad.mit.edu	37	16	57794781	57794781	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:57794781T>C	ENST00000379655.4	-	16	2346	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	KIFC3_ENST00000543930.1_Missense_Mutation_p.I555V|KIFC3_ENST00000421376.2_Missense_Mutation_p.I558V|KIFC3_ENST00000540079.2_Missense_Mutation_p.I595V|KIFC3_ENST00000445690.2_Missense_Mutation_p.I697V|KIFC3_ENST00000541240.1_Missense_Mutation_p.I719V|KIFC3_ENST00000539578.1_Missense_Mutation_p.I639V|KIFC3_ENST00000562903.1_Missense_Mutation_p.I558V|KIFC3_ENST00000465878.2_Missense_Mutation_p.I558V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	697	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GACTTGTTGATGTGCTGCGCC	0.682																																						uc002emq.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2089-2091)Atc>Gtc		Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.							37.0	39.0	38.0					16																	57794781		2198	4299	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794781T>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2089A>G	16.37:g.57794781T>C	ENSP00000368976:p.Ile697Val					KIFC3_uc010vhw.2_Missense_Mutation_p.I595V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.I558V|KIFC3_uc010vhx.2_Missense_Mutation_p.I555V|KIFC3_uc010cdf.3_Missense_Mutation_p.I558V|KIFC3_uc002emo.4_Missense_Mutation_p.I558V|KIFC3_uc010vhy.2_Missense_Mutation_p.I639V|KIFC3_uc002emp.3_Missense_Mutation_p.I697V|KIFC3_uc010vhz.2_Missense_Mutation_p.I719V	p.I697V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN			15	2286	-		all_neural(199;0.224)	697			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.2089A>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372064	0.82573	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.99	4.99	0.66335	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.88640	2.97	0.80722	D	1	P;P;D;P;P;P	0.54047	0.689;0.863;0.964;0.956;0.689;0.643	P;P;P;D;P;P	0.63488	0.691;0.689;0.793;0.915;0.7;0.591	D	0.93003	0.6425	10	0.87932	D	0	.	13.8649	0.63583	0.0:0.0:0.0:1.0	.	719;639;555;595;697;558	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	V	697;697;558;719;595;555;639	ENSP00000368976:I697V;ENSP00000401696:I697V;ENSP00000396399:I558V;ENSP00000442008:I719V;ENSP00000438805:I595V;ENSP00000444012:I555V;ENSP00000444884:I639V	ENSP00000368976:I697V	I	-	1	0	KIFC3	56352282	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	8.015000	0.88690	1.897000	0.54924	0.172000	0.16884	ATC		0.682	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
CHST6	4166	broad.mit.edu	37	16	75513386	75513386	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:75513386C>T	ENST00000332272.4	-	3	520	c.341G>A	c.(340-342)cGc>cAc	p.R114H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R114H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	114					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGTTGCGGCGCCAAGGCAG	0.672																																						uc021tlj.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(340-342)cGc>cAc		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.							50.0	44.0	46.0					16																	75513386		2198	4298	6496	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513386C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.341G>A	16.37:g.75513386C>T	ENSP00000328983:p.Arg114His					CHST6_uc002fef.3_Missense_Mutation_p.R114H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R114H	p.R114H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			0	341	-			114					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.341G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714535	0.30413	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.82344	-1.6;-1.6	4.56	3.36	0.38483	Sulfotransferase domain (1);	0.518660	0.17967	N	0.155986	T	0.76047	0.3933	L	0.47716	1.5	0.09310	N	0.999994	B	0.09022	0.002	B	0.13407	0.009	T	0.63413	-0.6643	10	0.31617	T	0.26	.	10.7793	0.46369	0.0:0.8857:0.0:0.1143	.	114	Q9GZX3	CHST6_HUMAN	H	114	ENSP00000328983:R114H;ENSP00000375079:R114H	ENSP00000328983:R114H	R	-	2	0	CHST6	74070887	0.706000	0.27856	0.996000	0.52242	0.981000	0.71138	1.533000	0.36040	2.078000	0.62432	0.591000	0.81541	CGC		0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615	
ADAMTS18	170692	broad.mit.edu	37	16	77355016	77355016	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:77355016C>G	ENST00000282849.5	-	15	2665	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	749	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTTATAAAACTTGCAAGTTG	0.383																																						uc002ffc.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2245-2247)aaG>aaC		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							123.0	122.0	123.0					16																	77355016		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77355016C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2247G>C	16.37:g.77355016C>G	ENSP00000282849:p.Lys749Asn					ADAMTS18_uc010chc.1_Missense_Mutation_p.K337N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K445N	p.K749N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			14	2666	-			749			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2247G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022211	0.54683	.	.	ENSG00000140873	ENST00000282849	T	0.68181	-0.31	5.49	4.54	0.55810	.	0.222054	0.45867	D	0.000328	T	0.67979	0.2951	M	0.73962	2.25	0.45852	D	0.998713	B;B	0.22800	0.014;0.075	B;B	0.28784	0.023;0.094	T	0.67554	-0.5641	10	0.52906	T	0.07	.	13.1984	0.59752	0.0:0.9238:0.0:0.0762	.	749;749	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	N	749	ENSP00000282849:K749N	ENSP00000282849:K749N	K	-	3	2	ADAMTS18	75912517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.194000	0.32174	1.331000	0.45412	0.650000	0.86243	AAG		0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
KRT16	3868	broad.mit.edu	37	17	39767345	39767345	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr17:39767345G>A	ENST00000301653.4	-	4	973	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	303	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTCTCAGCGTCTCTGCGGT	0.607																																						uc002hxg.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(907-909)gaC>gaT		Homo sapiens keratin 16 (KRT16), mRNA.							156.0	143.0	147.0					17																	39767345		2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767345G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.909C>T	17.37:g.39767345G>A						JUP_uc010wfs.2_Intron	p.D303D	NM_005557	NP_005548	P08779	K1C16_HUMAN			3	1048	-		Breast(137;0.000307)	303			Coil 2.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.909C>T	CCDS11401.1																																																																																				0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
CILP2	148113	broad.mit.edu	37	19	19656153	19656153	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:19656153G>A	ENST00000291495.5	+	8	2884	c.2799G>A	c.(2797-2799)ccG>ccA	p.P933P	CILP2_ENST00000586018.1_Silent_p.P939P	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	933						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCAACCCGCAGGAGTTCC	0.662																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2815-2817)ccG>ccA		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							27.0	21.0	23.0					19																	19656153		2202	4300	6502	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656153G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2799G>A	19.37:g.19656153G>A						CILP2_uc002nmv.4_Silent_p.P933P	p.P939P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2902	+			933					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2817G>A	CCDS12405.1																																																																																				0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
LMTK3	114783	broad.mit.edu	37	19	49013377	49013377	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:49013377C>T	ENST00000600059.1	-	3	491	c.264G>A	c.(262-264)gcG>gcA	p.A88A	LMTK3_ENST00000270238.3_Silent_p.A117A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	88					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(349-351)gcG>gcA		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							37.0	42.0	40.0					19																	49013377		2026	4178	6204	SO:0001819	synonymous_variant	114783							g.chr19:49013377C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.264G>A	19.37:g.49013377C>T							p.A117A	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	3	351	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.351G>A																																																																																					0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
ZNF71	58491	broad.mit.edu	37	19	57133286	57133286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:57133286G>A	ENST00000328070.6	+	3	865	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCGTA	0.657																																						uc002qnm.4																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(631-633)Gag>Aag		Homo sapiens zinc finger protein 71 (ZNF71), mRNA.							46.0	40.0	42.0					19																	57133286		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133286G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.631G>A	19.37:g.57133286G>A	ENSP00000328245:p.Glu211Lys					ZNF71_uc021vcg.1_Missense_Mutation_p.E211K	p.E211K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	2	869	+			211					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.631G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174399	0.78452	.	.	ENSG00000197951	ENST00000328070	T	0.24350	1.86	3.47	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.31578	0.945	0.33052	D	0.532899	D	0.76494	0.999	P	0.56514	0.8	T	0.41945	-0.9480	9	0.72032	D	0.01	.	10.0035	0.41942	0.1067:0.0:0.8932:0.0	.	211	Q9NQZ8	ZNF71_HUMAN	K	211	ENSP00000328245:E211K	ENSP00000328245:E211K	E	+	1	0	ZNF71	61825098	1.000000	0.71417	0.978000	0.43139	0.605000	0.37080	4.153000	0.58118	1.777000	0.52277	0.561000	0.74099	GAG		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453																																						uc002rcc.1																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4000-4002)cGt>cAt		Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.		C	HIS/ARG	0,4406		0,0,2203	179.0	170.0	173.0		4001	5.0	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493765C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His					NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_Non-coding_Transcript	p.R1334H	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			33	4027	-			1334					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4001G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
CYP26B1	56603	broad.mit.edu	37	2	72360330	72360330	+	Missense_Mutation	SNP	C	C	T	rs534997827		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:72360330C>T	ENST00000001146.2	-	5	1171	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R132Q|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R248Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	323					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTCATCCCGCAGCTTCTC	0.657																																						uc002sih.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(967-969)cGg>cAg		Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.							27.0	26.0	26.0					2																	72360330		2202	4298	6500	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360330C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.968G>A	2.37:g.72360330C>T	ENSP00000001146:p.Arg323Gln					CYP26B1_uc010yra.1_Missense_Mutation_p.R306Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R248Q	p.R323Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	968	-			323					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.968G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966062	0.97156	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.71222	-0.55;-0.55;-0.55	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	L	0.39397	1.21	0.80722	D	1	D;D;D	0.55605	0.972;0.972;0.972	P;P;P	0.56127	0.792;0.771;0.771	T	0.71777	-0.4490	10	0.34782	T	0.22	-6.847	18.6392	0.91389	0.0:1.0:0.0:0.0	.	248;306;323	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	323;132;248	ENSP00000001146:R323Q;ENSP00000401465:R132Q;ENSP00000443304:R248Q	ENSP00000001146:R323Q	R	-	2	0	CYP26B1	72213838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.925000	0.63425	2.833000	0.97629	0.650000	0.86243	CGG		0.657	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	
ST6GAL2	84620	broad.mit.edu	37	2	107460088	107460088	+	Missense_Mutation	SNP	C	C	T	rs377166692		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:107460088C>T	ENST00000409382.3	-	2	956	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V116M|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V116M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	116					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTCTCCCCACCTGGGATGAA	0.547																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(346-348)Gtg>Atg		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.		C	MET/VAL,MET/VAL,MET/VAL	1,4381		0,1,2190	64.0	76.0	72.0		346,346,346	-2.2	0.1	2		72	0,8590		0,0,4295	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	21,21,21	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign	116/530,116/467,116/530	107460088	1,12971	2191	4295	6486	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460088C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.346G>A	2.37:g.107460088C>T	ENSP00000386942:p.Val116Met					ST6GAL2_uc002tdr.3_Missense_Mutation_p.V116M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V116M	p.V116M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	465	-			116					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.346G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241268	0.22711	2.28E-4	0.0	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.33216	2.44;2.44;1.42	5.54	-2.21	0.06973	.	1.023340	0.07733	N	0.945527	T	0.15522	0.0374	N	0.19112	0.55	0.09310	N	1	B;B	0.24920	0.114;0.022	B;B	0.18561	0.022;0.01	T	0.25398	-1.0133	10	0.51188	T	0.08	-4.6552	2.0195	0.03505	0.1169:0.1891:0.355:0.3391	.	116;116	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	M	116	ENSP00000355273:V116M;ENSP00000386942:V116M;ENSP00000387332:V116M	ENSP00000355273:V116M	V	-	1	0	ST6GAL2	106826520	0.001000	0.12720	0.124000	0.21820	0.526000	0.34562	-0.515000	0.06290	-0.385000	0.07833	0.655000	0.94253	GTG		0.547	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ACTR3	10096	broad.mit.edu	37	2	114691915	114691915	+	Silent	SNP	C	C	T	rs371867071		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:114691915C>T	ENST00000263238.2	+	6	812	c.492C>T	c.(490-492)acC>acT	p.T164T	ACTR3_ENST00000536059.1_Silent_p.T102T|ACTR3_ENST00000535589.2_Silent_p.T113T	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	164					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGACGTTGACCGGTACGGTAA	0.418																																						uc002tkx.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(490-492)acC>acT		Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.		C		0,4406		0,0,2203	263.0	239.0	247.0		492	-2.5	1.0	2		247	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTR3	NM_005721.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/419	114691915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691915C>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.492C>T	2.37:g.114691915C>T						ACTR3_uc010yyc.1_Silent_p.T102T|ACTR3_uc010yyd.1_Silent_p.T113T	p.T164T	NM_005721	NP_005712	P61158	ARP3_HUMAN			5	812	+			164					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.492C>T	CCDS33277.1																																																																																				0.418	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721	
PRPF40A	55660	broad.mit.edu	37	2	153515685	153515685	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:153515685C>T	ENST00000410080.1	-	23	2969	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	837					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGGCTATCATCATCATCTGAA	0.343																																						uc002tyh.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.(2428-2430)Gat>Aat		Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.							95.0	87.0	89.0					2																	153515685		1851	4096	5947	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153515685C>T	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2428G>A	2.37:g.153515685C>T	ENSP00000386458:p.Asp810Asn					PRPF40A_uc002tyg.4_Missense_Mutation_p.D266N|PRPF40A_uc010zcd.1_Missense_Mutation_p.D761N	p.D810N	NM_017892	NP_060362	O75400	PR40A_HUMAN			22	2450	-			837					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2428G>A	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298562	0.81025	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.32272	1.46	5.38	5.38	0.77491	.	0.089615	0.85682	D	0.000000	T	0.30541	0.0768	L	0.39898	1.24	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.40165	0.321;0.321	T	0.01889	-1.1253	10	0.27082	T	0.32	-24.5581	19.5019	0.95098	0.0:1.0:0.0:0.0	.	837;810	O75400;E9PFS0	PR40A_HUMAN;.	N	810;819;706;761	ENSP00000386458:D810N	ENSP00000348770:D819N	D	-	1	0	PRPF40A	153223931	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.776000	0.85560	2.697000	0.92050	0.563000	0.77884	GAT		0.343	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
STK11IP	114790	broad.mit.edu	37	2	220476376	220476376	+	Missense_Mutation	SNP	G	G	A	rs199930908		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:220476376G>A	ENST00000456909.1	+	18	2245	c.2155G>A	c.(2155-2157)Gct>Act	p.A719T	STK11IP_ENST00000295641.10_Missense_Mutation_p.A730T			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	730					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCTCCTCGCTGTGTCTCG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0					uc002vml.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(2188-2190)Gct>Act		Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.							97.0	110.0	106.0					2																	220476376		2074	4197	6271	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220476376G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2155G>A	2.37:g.220476376G>A	ENSP00000389383:p.Ala719Thr						p.A730T	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2231	+		Renal(207;0.0183)	730					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2188G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	9.679	1.148788	0.21288	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.08282	3.12;3.11	4.7	0.702	0.18110	.	0.365789	0.27901	N	0.017399	T	0.06416	0.0165	L	0.56769	1.78	0.09310	N	1	B	0.31318	0.319	B	0.21151	0.033	T	0.35624	-0.9781	10	0.20519	T	0.43	-1.0735	5.3241	0.15896	0.1884:0.3381:0.4736:0.0	.	730	Q8N1F8	S11IP_HUMAN	T	719;730	ENSP00000389383:A719T;ENSP00000295641:A730T	ENSP00000295641:A730T	A	+	1	0	STK11IP	220184620	0.670000	0.27512	0.155000	0.22561	0.003000	0.03518	0.247000	0.18179	0.218000	0.20820	-1.385000	0.01166	GCT		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	
SCG2	7857	broad.mit.edu	37	2	224462380	224462380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:224462380C>T	ENST00000305409.2	-	2	1853	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAATTTGTTCCTCTTCCTGC	0.507																																						uc021vxk.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1621-1623)Gaa>Aaa		Homo sapiens secretogranin II (SCG2), mRNA.							118.0	108.0	111.0					2																	224462380		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462380C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1621G>A	2.37:g.224462380C>T	ENSP00000304133:p.Glu541Lys					SCG2_uc002vnm.3_Missense_Mutation_p.E541K	p.E541K	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	0	1621	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	541					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1621G>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353242	0.11182	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.77	3.95	0.45737	.	0.402882	0.26089	N	0.026404	T	0.01976	0.0062	L	0.37630	1.12	0.45837	D	0.998702	B	0.15930	0.015	B	0.21546	0.035	T	0.55296	-0.8163	10	0.29301	T	0.29	.	9.0109	0.36139	0.0:0.773:0.0:0.227	.	541	P13521	SCG2_HUMAN	K	541;401	ENSP00000304133:E541K	ENSP00000304133:E541K	E	-	1	0	SCG2	224170624	0.959000	0.32827	0.876000	0.34364	0.270000	0.26580	2.912000	0.48782	0.759000	0.33084	0.585000	0.79938	GAA		0.507	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
MLPH	79083	broad.mit.edu	37	2	238449110	238449110	+	Silent	SNP	C	C	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:238449110C>A	ENST00000264605.3	+	10	1518	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.A408A|MLPH_ENST00000338530.4_Silent_p.A380A|MLPH_ENST00000410032.1_Silent_p.A265A|MLPH_ENST00000409373.1_Silent_p.A340A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	408					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGAGGAAGCCAAGGACGAAA	0.627																																						uc002vwt.3																			0		p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1222-1224)gcC>gcA		Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.							78.0	75.0	76.0					2																	238449110		2203	4299	6502	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449110C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1224C>A	2.37:g.238449110C>A						MLPH_uc002vws.3_Silent_p.A265A|MLPH_uc010fyt.1_Silent_p.A380A|MLPH_uc002vwu.3_Silent_p.A380A|MLPH_uc002vwv.3_Silent_p.A340A|MLPH_uc002vww.3_Silent_p.A356A|MLPH_uc002vwx.3_Silent_p.A264A	p.A408A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	9	1451	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	408					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1224C>A	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.269|0.269	-0.994440|-0.994440	0.02145|0.02145	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000436965|ENST00000415753	.|.	.|.	.|.	2.71|2.71	2.71|2.71	0.32032|0.32032	.|.	.|.	.|.	.|.	.|.	T|T	0.61110|0.61110	0.2321|0.2321	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60000|0.60000	-0.7348|-0.7348	4|4	.|.	.|.	.|.	-7.0745|-7.0745	11.5977|11.5977	0.50984|0.50984	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	Q|K	129|96	.|.	.|.	P|Q	+|+	2|1	0|0	MLPH|MLPH	238113849|238113849	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.022000|0.022000	0.10575|0.10575	0.020000|0.020000	0.13466|0.13466	1.832000|1.832000	0.53329|0.53329	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.627	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101	
PTPRT	11122	broad.mit.edu	37	20	41101086	41101086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr20:41101086C>T	ENST00000373187.1	-	8	1269	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PTPRT_ENST00000373198.4_Missense_Mutation_p.V424M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V424M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V424M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V424M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V424M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V424M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	424	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTACTGCACGGTGAGGTTG	0.607																																						uc002xkg.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1270-1272)Gtg>Atg		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							67.0	73.0	71.0					20																	41101086		2129	4243	6372	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101086C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1270G>A	20.37:g.41101086C>T	ENSP00000362283:p.Val424Met					PTPRT_uc010ggj.3_Missense_Mutation_p.V424M	p.V424M	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1454	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	424			Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1270G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374639	0.61735	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.131761	0.50627	D	0.000115	T	0.57770	0.2076	L	0.46157	1.445	0.53005	D	0.999969	D;D	0.63880	0.993;0.988	P;B	0.52646	0.705;0.414	T	0.61917	-0.6964	10	0.87932	D	0	.	14.5221	0.67856	0.0:0.8535:0.1465:0.0	.	424;424	O14522-1;O14522	.;PTPRT_HUMAN	M	424	ENSP00000362286:V424M;ENSP00000362283:V424M;ENSP00000362289:V424M;ENSP00000348408:V424M;ENSP00000362294:V424M;ENSP00000362280:V424M;ENSP00000362297:V424M	ENSP00000348408:V424M	V	-	1	0	PTPRT	40534500	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.743000	0.62110	2.484000	0.83849	0.462000	0.41574	GTG		0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ADM2	79924	broad.mit.edu	37	22	50921222	50921222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr22:50921222G>A	ENST00000395738.2	+	2	629	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	ADM2_ENST00000362068.2_Nonsense_Mutation_p.W29*|ADM2_ENST00000395737.1_Missense_Mutation_p.G113S	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	113					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGCTGGGCACCTGCCA	0.701																																						uc003blj.3																			0				breast(1)|kidney(1)	2						c.(337-339)Ggc>Agc		Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA.							8.0	10.0	10.0					22																	50921222		2073	4119	6192	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921222G>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.337G>A	22.37:g.50921222G>A	ENSP00000379087:p.Gly113Ser					ADM2_uc011ary.2_Missense_Mutation_p.G113S	p.G113S	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	629	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	113					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.337G>A	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.987175|6.987175	0.97983|0.97983	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000395738;ENST00000395737|ENST00000362068	T;T|.	0.25579|.	1.79;1.79|.	4.62|4.62	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|.	0.55909|.	0.1950|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.57548|.	0.823|.	T|.	0.52975|.	-0.8503|.	9|.	0.87932|0.02654	D|T	0|1	.|.	10.9013|10.9013	0.47054|0.47054	0.1135:0.0:0.8865:0.0|0.1135:0.0:0.8865:0.0	.|.	113|.	Q7Z4H4|.	ADM2_HUMAN|.	S|X	113|29	ENSP00000379087:G113S;ENSP00000379086:G113S|.	ENSP00000379086:G113S|ENSP00000354955:W29X	G|W	+|+	1|3	0|0	ADM2|ADM2	49268088|49268088	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.520000|0.520000	0.34377|0.34377	4.266000|4.266000	0.58871|0.58871	2.113000|2.113000	0.64589|0.64589	0.448000|0.448000	0.29417|0.29417	GGC|TGG		0.701	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866	
PLA1A	51365	broad.mit.edu	37	3	119316815	119316815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:119316815C>G	ENST00000273371.4	+	1	127	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_5'Flank|PLA1A_ENST00000495992.1_Missense_Mutation_p.L19V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	19					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATTTTGTGGCTCAGCGTTGG	0.507																																						uc003ecu.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(55-57)Ctc>Gtc		Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.							45.0	42.0	43.0					3																	119316815		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119316815C>G	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.55C>G	3.37:g.119316815C>G	ENSP00000273371:p.Leu19Val					PLA1A_uc003ecv.3_Missense_Mutation_p.L19V|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	p.L19V	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN			0	121	+			19					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.55C>G	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624402	0.28889	.	.	ENSG00000144837	ENST00000273371;ENST00000495992	D;D	0.90385	-2.66;-2.57	5.18	2.38	0.29361	Lipase, N-terminal (1);	20.918400	0.00597	N	0.000363	D	0.85457	0.5701	N	0.25647	0.755	0.09310	N	0.999999	P;P	0.48089	0.728;0.905	B;B	0.43508	0.297;0.422	T	0.75531	-0.3285	10	0.16896	T	0.51	-5.7906	7.2512	0.26150	0.0:0.7209:0.0:0.2791	.	19;19	Q53H76-3;Q53H76	.;PLA1A_HUMAN	V	19	ENSP00000273371:L19V;ENSP00000417326:L19V	ENSP00000273371:L19V	L	+	1	0	PLA1A	120799505	0.345000	0.24835	0.275000	0.24674	0.345000	0.29048	0.065000	0.14466	0.774000	0.33427	0.655000	0.94253	CTC		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
MRPL3	11222	broad.mit.edu	37	3	131190114	131190114	+	Silent	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:131190114T>C	ENST00000264995.3	-	7	786	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MRPL3_ENST00000425847.2_Silent_p.K240K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	213					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTGAAAACCTTTACCAATAC	0.408																																						uc011blp.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(718-720)aaA>aaG		Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.							97.0	98.0	98.0					3																	131190114		2203	4299	6502	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190114T>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.639A>G	3.37:g.131190114T>C						MRPL3_uc011blo.2_Silent_p.K108K|MRPL3_uc003eoh.3_Silent_p.K213K	p.K240K	NM_007208	NP_009139	P09001	RM03_HUMAN			7	915	-			213					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.720A>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	9.854	1.194396	0.22037	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.70868	0.3273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70153	-0.4950	4	.	.	.	-24.2461	14.6911	0.69087	0.0:0.0:0.0:1.0	.	.	.	.	G	228	.	.	R	-	1	2	MRPL3	132672804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.835000	0.55805	2.113000	0.64589	0.528000	0.53228	AGG		0.408	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208	
RASSF6	166824	broad.mit.edu	37	4	74442417	74442417	+	Silent	SNP	C	C	T	rs147932445	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:74442417C>T	ENST00000342081.3	-	9	979	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RASSF6_ENST00000395777.2_Silent_p.P217P|RASSF6_ENST00000307439.5_Silent_p.P251P|RASSF6_ENST00000335049.5_Silent_p.P239P	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	283	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													C|||	4	0.000798722	0.0	0.0029	5008	,	,		18175	0.0		0.0	False		,,,				2504	0.002					uc003hhd.1																			0		p.P283Q(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(847-849)ccG>ccA		Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	220.0	229.0	226.0		753,849	-12.1	0.0	4	dbSNP_134	226	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	RASSF6	NM_177532.3,NM_201431.1	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	251/338,283/370	74442417	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74442417C>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.849G>A	4.37:g.74442417C>T						RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	p.P283P	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		8	972	-	Breast(15;0.00102)		283			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.849G>A	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
DSPP	1834	broad.mit.edu	37	4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	rs61738515	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:88534401G>A	ENST00000282478.7	+	3	1096	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I	DSPP_ENST00000399271.1_Missense_Mutation_p.V355I|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	355					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		20067	0.0		0.0	False		,,,				2504	0.0					uc003hqu.3																			0		p.R354H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1063-1065)Gta>Ata		Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.		G	ILE/VAL	32,3730		0,32,1849	38.0	37.0	37.0		1063	2.9	0.0	4	dbSNP_129	37	1,8169		0,1,4084	yes	missense	DSPP	NM_014208.3	29	0,33,5933	AA,AG,GG		0.0122,0.8506,0.2766	possibly-damaging	355/1302	88534401	33,11899	1881	4085	5966	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534401G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1063G>A	4.37:g.88534401G>A	ENSP00000282478:p.Val355Ile						p.V355I	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	3	1183	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	355					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1063G>A	CCDS43248.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	12.59	1.982524	0.34942	0.008506	1.22E-4	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.90676	-2.71;-2.71	4.68	2.93	0.34026	.	0.635334	0.12002	N	0.508770	T	0.76521	0.3999	L	0.55481	1.735	0.09310	N	1	P	0.47350	0.894	B	0.37239	0.244	T	0.70059	-0.4976	10	0.42905	T	0.14	-0.4445	7.6755	0.28484	0.0916:0.1646:0.7438:0.0	rs61738515	355	Q9NZW4	DSPP_HUMAN	I	355	ENSP00000382213:V355I;ENSP00000282478:V355I	ENSP00000282478:V355I	V	+	1	0	DSPP	88753425	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.233000	0.17911	0.557000	0.29117	0.557000	0.71058	GTA		0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						uc003ijj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_uc003ijk.4_5'UTR		NM_198682	NP_941391	P15421	GLPE_HUMAN			0		-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
TRIM2	23321	broad.mit.edu	37	4	154215581	154215581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:154215581G>A	ENST00000437508.2	+	5	850	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	TRIM2_ENST00000338700.5_Missense_Mutation_p.V244M|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	217					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GACTTTAAATGTGCGCAAGAG	0.418																																						uc003inh.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(730-732)Gtg>Atg		Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.							144.0	126.0	132.0					4																	154215581		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154215581G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.649G>A	4.37:g.154215581G>A	ENSP00000415812:p.Val217Met					TRIM2_uc003ing.2_Missense_Mutation_p.V217M	p.V244M	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	4	815	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	217					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.730G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601902	0.87055	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.69561	-0.4;-0.41	6.17	6.17	0.99709	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.47716	1.5	0.54753	D	0.999982	P;P	0.50943	0.94;0.94	P;P	0.48030	0.564;0.564	T	0.70934	-0.4737	10	0.62326	D	0.03	-7.7904	20.8794	0.99867	0.0:0.0:1.0:0.0	.	244;217	D3DP09;Q9C040	.;TRIM2_HUMAN	M	217;244	ENSP00000415812:V217M;ENSP00000339659:V244M	ENSP00000339659:V244M	V	+	1	0	TRIM2	154435031	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.484000	0.81180	2.941000	0.99782	0.655000	0.94253	GTG		0.418	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
IL7R	3575	broad.mit.edu	37	5	35876389	35876389	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:35876389G>A	ENST00000303115.3	+	8	1310	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	394					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGGGAGAGTGGCAAGAATGGG	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1180-1182)gGc>gAc		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							97.0	86.0	90.0					5																	35876389		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876389G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1181G>A	5.37:g.35876389G>A	ENSP00000306157:p.Gly394Asp					IL7R_uc011cop.2_Non-coding_Transcript	p.G394D	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1270	+	all_lung(31;0.00015)		394					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1181G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	g	1.253	-0.617932	0.03663	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.28895	2.06;1.59	5.6	-2.57	0.06248	.	1.973100	0.01553	N	0.019767	T	0.17534	0.0421	L	0.28274	0.84	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.06991	-1.0796	10	0.12766	T	0.61	-11.3915	1.9841	0.03433	0.4453:0.1286:0.2945:0.1315	.	394	P16871	IL7RA_HUMAN	D	394;160	ENSP00000306157:G394D;ENSP00000420923:G160D	ENSP00000306157:G394D	G	+	2	0	IL7R	35912146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.044000	0.12023	-0.999000	0.03442	-1.832000	0.00591	GGC		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
UTP15	84135	broad.mit.edu	37	5	72864347	72864347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:72864347G>A	ENST00000296792.4	+	4	541	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	UTP15_ENST00000508491.1_Missense_Mutation_p.V77M|UTP15_ENST00000543251.1_5'UTR|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGATTGCTTGTGGCTGGCAG	0.428																																						uc003kcw.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(286-288)Gtg>Atg		Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.							110.0	113.0	112.0					5																	72864347		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72864347G>A	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.286G>A	5.37:g.72864347G>A	ENSP00000296792:p.Val96Met					UTP15_uc011cso.1_Missense_Mutation_p.V77M|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.V96M|ANKRA2_uc003kcu.2_5'Flank	p.V96M	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	3	509	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	96					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.286G>A	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876895	0.91664	.	.	ENSG00000164338	ENST00000296792;ENST00000508491	T;T	0.21932	1.98;1.98	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109305	0.64402	D	0.000008	T	0.57902	0.2085	M	0.92122	3.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.68119	-0.5493	9	.	.	.	.	19.5283	0.95215	0.0:0.0:1.0:0.0	.	77;96	B4DXK8;Q8TED0	.;UTP15_HUMAN	M	96;77	ENSP00000296792:V96M;ENSP00000424609:V77M	.	V	+	1	0	UTP15	72900103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.596000	0.87737	0.655000	0.94253	GTG		0.428	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
GRIA1	2890	broad.mit.edu	37	5	153190767	153190767	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:153190767G>A	ENST00000285900.5	+	16	3046	c.2703G>A	c.(2701-2703)ttG>ttA	p.L901L	GRIA1_ENST00000518142.1_Silent_p.L821L|GRIA1_ENST00000521843.2_Silent_p.L832L|GRIA1_ENST00000448073.4_Silent_p.L911L|GRIA1_ENST00000518783.1_Silent_p.L911L|GRIA1_ENST00000340592.5_Silent_p.L901L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	901					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGATGCCCTTGGGAGCCACGG	0.592																																						uc011dcy.2																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2731-2733)ttG>ttA		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						44.0	41.0	42.0					5																	153190767		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190767G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2703G>A	5.37:g.153190767G>A						GRIA1_uc003lva.4_Silent_p.L901L|GRIA1_uc003luy.4_Silent_p.L901L|GRIA1_uc003luz.4_Silent_p.L806L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L821L|GRIA1_uc011dcx.2_Silent_p.L832L|GRIA1_uc011dcz.2_Silent_p.L911L	p.L911L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		15	2760	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	901					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2733G>A	CCDS4322.1																																																																																				0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
IRF4	3662	broad.mit.edu	37	6	398928	398928	+	Silent	SNP	G	G	A	rs144395675	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:398928G>A	ENST00000380956.4	+	6	864	c.738G>A	c.(736-738)gcG>gcA	p.A246A		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	246					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGCCTTGGCGTTCTCAGGTG	0.592			T	IGH@	MM								G|||	2	0.000399361	0.0008	0.0	5008	,	,		19636	0.0		0.0	False		,,,				2504	0.001					uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(736-738)gcG>gcA		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	52.0	51.0	51.0		735,738	-3.2	1.0	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	245/451,246/452	398928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398928G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.738G>A	6.37:g.398928G>A						IRF4_uc010jne.2_Silent_p.A246A|IRF4_uc003mtb.4_Silent_p.A245A|IRF4_uc021ykl.1_Silent_p.A92A|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Silent_p.A76A	p.A246A	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	864	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	246					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.738G>A	CCDS4469.1																																																																																				0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
ECT2L	345930	broad.mit.edu	37	6	139208055	139208055	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:139208055G>A	ENST00000423192.1	+	18	2482	c.2321G>A	c.(2320-2322)tGc>tAc	p.C774Y	ECT2L_ENST00000541398.1_Missense_Mutation_p.C628Y|ECT2L_ENST00000367682.2_Missense_Mutation_p.C774Y			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	774							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGGGATGCCCTGTATGT	0.393			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.2				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2320-2322)tGc>tAc		Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.							69.0	65.0	66.0					6																	139208055		1888	4102	5990	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139208055G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2321G>A	6.37:g.139208055G>A	ENSP00000387388:p.Cys774Tyr					ECT2L_uc021zfx.1_Missense_Mutation_p.C774Y|ECT2L_uc011edq.1_Missense_Mutation_p.C628Y	p.C774Y	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN			18	2646	+			774					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2321G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625072	0.66901	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79653	-0.08;-0.08;-1.29	5.48	5.48	0.80851	Dbl homology (DH) domain (1);	0.000000	0.47093	U	0.000248	D	0.86213	0.5879	M	0.76002	2.32	0.33194	D	0.55121	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.85039	0.0922	10	0.38643	T	0.18	-4.8331	15.1959	0.73088	0.0:0.0:1.0:0.0	.	628;774	F5H7S9;Q008S8	.;ECT2L_HUMAN	Y	774;774;628	ENSP00000387388:C774Y;ENSP00000356655:C774Y;ENSP00000442307:C628Y	ENSP00000356655:C774Y	C	+	2	0	ECT2L	139249748	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.161000	0.64935	2.738000	0.93877	0.655000	0.94253	TGC		0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
MAD1L1	8379	broad.mit.edu	37	7	1855850	1855850	+	Silent	SNP	C	C	T	rs370594384		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:1855850C>T	ENST00000406869.1	-	19	2570	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	MAD1L1_ENST00000265854.7_Silent_p.S671S|MAD1L1_ENST00000402746.1_Silent_p.S579S|MAD1L1_ENST00000399654.2_Silent_p.S671S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	671					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGGAACCCGAGGGGCTGG	0.642																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(2011-2013)tcG>tcA		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.		C	,,	1,4047		0,1,2023	59.0	70.0	67.0		2013,2013,2013	1.9	1.0	7		67	0,8368		0,0,4184	no	coding-synonymous,coding-synonymous,coding-synonymous	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	0,1,6207	TT,TC,CC		0.0,0.0247,0.0081	,,	671/719,671/719,671/719	1855850	1,12415	2024	4184	6208	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1855850C>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.2013G>A	7.37:g.1855850C>T						MAD1L1_uc003sle.1_Silent_p.S400S|MAD1L1_uc003slf.1_Silent_p.S671S|MAD1L1_uc003slg.1_Silent_p.S671S|MAD1L1_uc010ksh.1_Silent_p.S671S|MAD1L1_uc003sli.1_Silent_p.S579S|MAD1L1_uc003sld.1_Silent_p.S127S	p.S671S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2279	-		Ovarian(82;0.0272)	671					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.2013G>A	CCDS43539.1																																																																																				0.642	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
FKBP9P1	360132	broad.mit.edu	37	7	55753014	55753014	+	RNA	SNP	C	C	T	rs185524994	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:55753014C>T	ENST00000455909.1	-	0	549				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)	p.G35R(1)		endometrium(1)|kidney(1)|lung(3)	5						ACGGCACTGCCGGGCACTTCT	0.602													C|||	4	0.000798722	0.003	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					uc010kzl.3																			1	Substitution - Missense(1)	p.G35R(1)	lung(1)	endometrium(1)|kidney(1)|lung(3)	5						c.(436-438)Ggc>Agc		Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.		C		2,1382		0,2,690	96.0	82.0	86.0			2.1	1.0	7		86	0,3180		0,0,1590	no	intergenic				0,2,2280	TT,TC,CC		0.0,0.1445,0.0438			55753014	2,4562	692	1590	2282			360132							g.chr7:55753014C>T																													7.37:g.55753014C>T						FKBP9L_uc010kzk.3_Missense_Mutation_p.G35S|FKBP9L_uc003tqt.3_Missense_Mutation_p.G35S|FKBP9L_uc011kcs.2_Missense_Mutation_p.G35S|U6_uc022adq.1_5'Flank	p.G146S							4	536	-								B2R7H1	Missense_Mutation	SNP	ENST00000455909.1	37	c.436G>A																																																																																					0.602	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2		
ELN	2006	broad.mit.edu	37	7	73457353	73457353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73457353G>A	ENST00000252034.7	+	7	764	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ELN_ENST00000358929.4_Missense_Mutation_p.G122E|ELN_ENST00000445912.1_Missense_Mutation_p.G122E|ELN_ENST00000380584.4_Missense_Mutation_p.G122E|ELN_ENST00000380575.4_Missense_Mutation_p.G112E|ELN_ENST00000458204.1_Missense_Mutation_p.G112E|ELN_ENST00000414324.1_Missense_Mutation_p.G112E|ELN_ENST00000380562.4_Missense_Mutation_p.G122E|ELN_ENST00000380576.5_Missense_Mutation_p.G122E|ELN_ENST00000429192.1_Missense_Mutation_p.G122E|ELN_ENST00000320492.7_Missense_Mutation_p.G110E|ELN_ENST00000357036.5_Missense_Mutation_p.G122E|ELN_ENST00000320399.6_Missense_Mutation_p.G122E|ELN_ENST00000380553.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	122					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGTGGCTTAGGAGTGTCTGCA	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.3				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(364-366)gGa>gAa		Homo sapiens elastin (ELN), transcript variant 1, mRNA.	Rofecoxib(DB00533)						156.0	140.0	146.0					7																	73457353		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73457353G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.365G>A	7.37:g.73457353G>A	ENSP00000252034:p.Gly122Glu					ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.G122E|ELN_uc003tzy.3_Missense_Mutation_p.G112E|ELN_uc003tzz.3_Missense_Mutation_p.G110E|ELN_uc003tzo.3_Missense_Mutation_p.G122E|ELN_uc003tzp.3_Missense_Mutation_p.G112E|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G122E|ELN_uc003tzt.3_Missense_Mutation_p.G122E|ELN_uc003tzu.3_Missense_Mutation_p.G122E|ELN_uc003tzv.3_Missense_Mutation_p.G112E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G112E|ELN_uc011kff.2_Missense_Mutation_p.G122E	p.G122E	NM_000501	NP_001075224	P15502	ELN_HUMAN			6	456	+		Lung NSC(55;0.159)	122					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.365G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869647	0.33069	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;1.0;-1.01;-1.01;-1.01;-1.01;1.0;1.0;-1.01;-1.01	4.72	3.83	0.44106	.	.	.	.	.	T	0.78521	0.4296	M	0.73598	2.24	0.44234	D	0.997077	P;P;P;P;P;P;P;P;P;P;P;P;P	0.46142	0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873;0.873	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52710	0.707;0.49;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707;0.707	T	0.75634	-0.3250	9	0.06365	T	0.9	.	7.8678	0.29547	0.1107:0.0:0.8893:0.0	.	122;91;110;112;112;122;112;122;122;122;112;122;122	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	122;122;122;100;110;110;112;122;112;122;112;122;122;122;91;122;122;122	ENSP00000389857:G122E;ENSP00000252034:G122E;ENSP00000351807:G122E;ENSP00000394549:G100E;ENSP00000315607:G110E;ENSP00000406949:G110E;ENSP00000392575:G112E;ENSP00000369936:G122E;ENSP00000369949:G112E;ENSP00000369958:G122E;ENSP00000403162:G112E;ENSP00000349540:G122E;ENSP00000391129:G122E;ENSP00000369950:G122E;ENSP00000313565:G122E	ENSP00000252034:G122E	G	+	2	0	ELN	73095289	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	4.981000	0.63819	2.198000	0.70561	0.306000	0.20318	GGA		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
GTF2IRD1	9569	broad.mit.edu	37	7	73922465	73922465	+	Missense_Mutation	SNP	C	C	T	rs139144176		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73922465C>T	ENST00000265755.3	+	2	448	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R19C|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R19C	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	19					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACCCGACCGCTGGAACTC	0.642																																						uc003uaq.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(55-57)Cgc>Tgc		Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.							97.0	75.0	82.0					7																	73922465		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73922465C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.55C>T	7.37:g.73922465C>T	ENSP00000265755:p.Arg19Cys					GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R19C	p.R19C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			1	448	+			19					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.55C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285332	0.59867	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.34275	1.38;1.37;1.38;1.38	4.57	3.62	0.41486	.	0.414509	0.23442	N	0.048124	T	0.33235	0.0856	N	0.22421	0.69	0.46981	D	0.999278	D;D;D;D	0.67145	0.978;0.996;0.983;0.994	B;B;P;P	0.50049	0.328;0.425;0.507;0.629	T	0.24977	-1.0145	10	0.72032	D	0.01	-10.1129	13.4666	0.61258	0.0:0.8423:0.1577:0.0	.	19;19;19;19	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	C	19	ENSP00000265755:R19C;ENSP00000397566:R19C;ENSP00000408477:R19C;ENSP00000418383:R19C	ENSP00000265755:R19C	R	+	1	0	GTF2IRD1	73560401	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.788000	0.47806	2.269000	0.75478	0.561000	0.74099	CGC		0.642	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
NPTX2	4885	broad.mit.edu	37	7	98257925	98257925	+	Missense_Mutation	SNP	G	G	A	rs369863365		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:98257925G>A	ENST00000265634.3	+	5	1445	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	427	Pentaxin.			R -> A (in Ref. 1; AAA68980/AAA92296). {ECO:0000305}.	synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGAGCGTCTCCTTGAC	0.582																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1279-1281)cGt>cAt		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		G	HIS/ARG	0,4402		0,0,2201	42.0	40.0	41.0		1280	5.1	0.9	7		41	1,8599		0,1,4299	no	missense	NPTX2	NM_002523.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	427/432	98257925	1,13001	2201	4300	6501	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257925G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1280G>A	7.37:g.98257925G>A	ENSP00000265634:p.Arg427His						p.R427H	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1457	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		427	R -> A (in Ref. 1; AAA68980/AAA92296).		Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1280G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762101	0.89932	0.0	1.16E-4	ENSG00000106236	ENST00000265634	T	0.12255	2.7	5.94	5.06	0.68205	.	0.148621	0.64402	D	0.000007	T	0.37865	0.1019	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23940	-1.0174	10	0.72032	D	0.01	-6.0998	15.721	0.77710	0.0:0.0:0.8624:0.1376	.	427	P47972	NPTX2_HUMAN	H	427	ENSP00000265634:R427H	ENSP00000265634:R427H	R	+	2	0	NPTX2	98095861	1.000000	0.71417	0.946000	0.38457	0.752000	0.42762	9.702000	0.98712	1.516000	0.48900	-0.310000	0.09108	CGT		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
AZGP1	563	broad.mit.edu	37	7	99564820	99564820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:99564820delT	ENST00000292401.4	-	4	839	c.703delA	c.(703-705)attfs	p.I235fs	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	235	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCACATCAATTTTCCCTGGG	0.567																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(703-705)attfs		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							39.0	37.0	38.0					7																	99564820		2203	4296	6499	SO:0001589	frameshift_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564820delT	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.703delA	7.37:g.99564820delT	ENSP00000292401:p.Ile235fs						p.I235fs	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	795	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		235			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Frame_Shift_Del	DEL	ENST00000292401.4	37	c.703delA	CCDS5680.1																																																																																				0.567	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
REPIN1	29803	broad.mit.edu	37	7	150068350	150068350	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:150068350G>A	ENST00000425389.2	+	1	98	c.20G>A	c.(19-21)aGg>aAg	p.R7K	REPIN1_ENST00000466559.1_Missense_Mutation_p.G25R|REPIN1_ENST00000518514.1_Silent_p.Q55Q|REPIN1_ENST00000518462.1_3'UTR|REPIN1_ENST00000479668.1_Missense_Mutation_p.G106R|REPIN1_ENST00000540729.1_Missense_Mutation_p.R7K|REPIN1_ENST00000482680.1_Missense_Mutation_p.G106R|REPIN1_ENST00000489432.2_Missense_Mutation_p.R64K|REPIN1_ENST00000444957.1_Missense_Mutation_p.R7K|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.R7K	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	7					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTCGTTGCAGGGGCCCCCTG	0.647																																						uc010lpr.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(190-192)aGg>aAg		Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.							12.0	17.0	15.0					7																	150068350		1930	4113	6043	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068350G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.20G>A	7.37:g.150068350G>A	ENSP00000388287:p.Arg7Lys					REPIN1_uc003whd.2_5'UTR|REPIN1_uc010lpq.1_Missense_Mutation_p.R7K|REPIN1_uc003whc.2_Missense_Mutation_p.R7K|REPIN1_uc003whe.2_Missense_Mutation_p.R7K	p.R64K	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	384	+	Ovarian(565;0.183)|Melanoma(164;0.226)		7					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.191G>A	CCDS43677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.353760|2.353760	0.41700|0.41700	.|.	.|.	ENSG00000214022|ENSG00000214022	ENST00000479668;ENST00000466559;ENST00000482680|ENST00000519397;ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000461637;ENST00000425389	.|T;T;T;T;T;T;T;T	.|0.08102	.|5.67;3.21;3.21;3.21;3.13;3.49;3.26;3.21	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22080	.|0.064;0.064	.|B;B	.|0.17722	.|0.019;0.012	T|T	0.35992|0.35992	-0.9766|-0.9766	6|9	0.87932|0.62326	D|D	0|0.03	-19.2051|-19.2051	6.8101|6.8101	0.23799|0.23799	0.2045:0.0:0.7955:0.0|0.2045:0.0:0.7955:0.0	.|.	.|64;7	.|C9J3L7;Q9BWE0	.|.;REPI1_HUMAN	R|K	106;25;106|7;7;7;7;64;66;67;64;7	.|ENSP00000428562:R7K;ENSP00000445016:R7K;ENSP00000380451:R7K;ENSP00000407714:R7K;ENSP00000417291:R64K;ENSP00000419789:R66K;ENSP00000419872:R67K;ENSP00000388287:R7K	ENSP00000418507:G25R|ENSP00000380451:R7K	G|R	+|+	1|2	0|0	REPIN1|REPIN1	149699283|149699283	0.206000|0.206000	0.23470|0.23470	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	0.821000|0.821000	0.27338|0.27338	1.173000|1.173000	0.42796|0.42796	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
STKLD1	169436	broad.mit.edu	37	9	136260823	136260823	+	Missense_Mutation	SNP	G	G	T	rs587748084		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr9:136260823G>T	ENST00000371957.3	+	9	906	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCCCGGATGTGGAAACCTT	0.552																																						uc004cdk.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(799-801)Gtg>Ttg		Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.							88.0	91.0	90.0					9																	136260823		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136260823G>T																												ENST00000371957.3:c.799G>T	9.37:g.136260823G>T	ENSP00000361025:p.Val267Leu					C9orf96_uc004cdl.3_Non-coding_Transcript	p.V267L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	8	860	+			267			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.799G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	1.956	-0.439953	0.04636	.	.	ENSG00000198870	ENST00000371957	T	0.19806	2.12	4.86	0.676	0.17958	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.749870	0.12158	N	0.494252	T	0.07503	0.0189	N	0.02685	-0.53	0.09310	N	0.999997	B	0.22746	0.074	B	0.17979	0.02	T	0.29427	-1.0012	10	0.49607	T	0.09	-3.7061	3.5295	0.07771	0.1978:0.0:0.4559:0.3463	.	267	Q8NE28	SGK71_HUMAN	L	267	ENSP00000361025:V267L	ENSP00000361025:V267L	V	+	1	0	C9orf96	135250644	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.295000	0.19065	-0.075000	0.12798	-0.475000	0.04921	GTG		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		
BCOR	54880	broad.mit.edu	37	X	39932184	39932185	+	Frame_Shift_Ins	INS	-	-	CAGAC			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:39932184_39932185insCAGAC	ENST00000378444.4	-	4	2642_2643	c.2414_2415insGTCTG	c.(2413-2415)tacfs	p.Y805fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.Y805fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.Y805fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	805					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAAGGTCTACGTAGACAAGCTT	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2413-2415)tacfs		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932184_39932185insCAGAC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2414_2415insGTCTG	X.37:g.39932184_39932185insCAGAC	ENSP00000367705:p.Tyr805fs					BCOR_uc004dep.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.Y805fs	p.Y805fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2706_2707	-			805					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.2414_2415insGTCTG	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
AKAP4	8852	broad.mit.edu	37	X	49957245	49957245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:49957245G>A	ENST00000376056.2	-	5	2242	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	AKAP4_ENST00000376064.3_Missense_Mutation_p.L698F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.L324F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L707F					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATAAGGCAGAGCTTCATCACA	0.478																																						uc004dow.1																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2119-2121)Ctc>Ttc		Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.							109.0	88.0	95.0					X																	49957245		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957245G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2092C>T	X.37:g.49957245G>A	ENSP00000365224:p.Leu698Phe					AKAP4_uc004dou.1_Missense_Mutation_p.L698F|AKAP4_uc004dov.1_Missense_Mutation_p.L324F|AKAP4_uc010njp.1_Missense_Mutation_p.L529F	p.L707F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN			4	2243	-	Ovarian(276;0.236)		707						Missense_Mutation	SNP	ENST00000376056.2	37	c.2119C>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326745	0.41197	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	4.93	0.0577	0.14324	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.43260	D	0.000591	T	0.35740	0.0942	M	0.77103	2.36	0.27675	N	0.946643	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.14868	-1.0457	9	.	.	.	-7.2711	7.6327	0.28249	0.5083:0.0:0.4917:0.0	.	707;324	Q5JQC9;A6ND82	AKAP4_HUMAN;.	F	698;324;707;698	ENSP00000365224:L698F;ENSP00000365226:L324F;ENSP00000351327:L707F;ENSP00000365232:L698F	.	L	-	1	0	AKAP4	49843985	0.028000	0.19301	0.920000	0.36463	0.753000	0.42808	-0.027000	0.12371	-0.501000	0.06605	0.529000	0.55759	CTC		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
