#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CRB1	23418	broad.mit.edu	37	1	197404169	197404169	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:197404169C>A	ENST00000367400.3	+	9	3311	c.3176C>A	c.(3175-3177)aCa>aAa	p.T1059K	CRB1_ENST00000535699.1_Missense_Mutation_p.T1035K|CRB1_ENST00000544212.1_Missense_Mutation_p.T540K|CRB1_ENST00000538660.1_Intron|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.T947K|CRB1_ENST00000367397.1_Missense_Mutation_p.T440K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1059	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACAACGAAACACCTTTTGTG	0.458																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1318-1320)aCa>aAa		crumbs homolog 1 (Drosophila)							79.0	82.0	81.0					1																	197404169		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404169C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3176C>A	1.37:g.197404169C>A	ENSP00000356370:p.Thr1059Lys					CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.T947K|CRB1_ENST00000367400.3_Missense_Mutation_p.T1059K|CRB1_ENST00000544212.1_Missense_Mutation_p.T540K|CRB1_ENST00000535699.1_Missense_Mutation_p.T1035K	p.T440K			P82279	CRUM1_HUMAN			5	2177	+			1059					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1319C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	0.269	-0.994424	0.02145	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.7	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.65709	0.2717	L	0.36672	1.1	0.22933	N	0.998547	B;P;B;B	0.46142	0.023;0.873;0.004;0.125	B;P;B;B	0.46659	0.011;0.523;0.007;0.076	T	0.60047	-0.7339	9	0.05959	T	0.93	.	3.9102	0.09199	0.2546:0.5274:0.1375:0.0805	.	1035;947;708;1059	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	1035;1059;947;540;440;708	ENSP00000438786:T1035K;ENSP00000356370:T1059K;ENSP00000356369:T947K;ENSP00000444556:T540K;ENSP00000356367:T440K	ENSP00000356367:T440K	T	+	2	0	CRB1	195670792	0.975000	0.34042	0.557000	0.28306	0.018000	0.09664	2.394000	0.44450	2.681000	0.91329	0.650000	0.86243	ACA		0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		15	126	1	0	2.61681e-11	1	3.00381e-11	15	126				
LETM1	3954	broad.mit.edu	37	4	1834493	1834493	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:1834493C>T	ENST00000302787.2	-	6	1354	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	353	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTTTATGGAGCGCAGCCGCAT	0.567																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1057-1059)cGc>cAc		leucine zipper-EF-hand containing transmembrane protein 1							93.0	87.0	89.0					4																	1834493		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1834493C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1058G>A	4.37:g.1834493C>T	ENSP00000305653:p.Arg353His						p.R353H	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		6	1354	-			353			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1058G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684090	0.88639	.	.	ENSG00000168924	ENST00000302787	T	0.46451	0.87	4.61	4.61	0.57282	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70436	-0.4872	10	0.87932	D	0	-30.5564	17.4433	0.87572	0.0:1.0:0.0:0.0	.	353	O95202	LETM1_HUMAN	H	353	ENSP00000305653:R353H	ENSP00000305653:R353H	R	-	2	0	LETM1	1804291	1.000000	0.71417	0.991000	0.47740	0.628000	0.37860	7.302000	0.78861	2.131000	0.65755	0.561000	0.74099	CGC		0.567	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			14	57	0	0	0	1	0	14	57				
BOD1L1	259282	broad.mit.edu	37	4	13571744	13571744	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:13571744G>T	ENST00000040738.5	-	26	9182	c.9047C>A	c.(9046-9048)aCa>aAa	p.T3016K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	3016						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGAGAGCTGTGTCTTTGATCT	0.478																																						ENST00000040738.5																			0											c.(9046-9048)aCa>aAa		biorientation of chromosomes in cell division 1-like 1							67.0	63.0	65.0					4																	13571744		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13571744G>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.9047C>A	4.37:g.13571744G>T	ENSP00000040738:p.Thr3016Lys						p.T3016K	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			26	9182	-			3016					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.9047C>A	CCDS3411.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.297553|2.297553	0.40694|0.40694	.|.	.|.	ENSG00000038219|ENSG00000038219	ENST00000507943|ENST00000040738	.|T	.|0.06528	.|3.29	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.385400	.|0.21939	.|N	.|0.066911	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.08118|0.08118	0|0	0.21527|0.21527	N|N	0.999652|0.999652	.|P	.|0.34462	.|0.454	.|B	.|0.30401	.|0.115	T|T	0.38478|0.38478	-0.9659|-0.9659	5|10	.|0.52906	.|T	.|0.07	-0.7202|-0.7202	7.7789|7.7789	0.29054|0.29054	0.1479:0.0:0.8521:0.0|0.1479:0.0:0.8521:0.0	.|.	.|3016	.|Q8NFC6	.|BOD1L_HUMAN	N|K	172|3016	.|ENSP00000040738:T3016K	.|ENSP00000040738:T3016K	H|T	-|-	1|2	0|0	BOD1L|BOD1L	13180842|13180842	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	3.239000|3.239000	0.51360|0.51360	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		6	23	1	0	5.18039e-06	1	5.51898e-06	6	23				
CMKLR1	1240	broad.mit.edu	37	12	108685630	108685630	+	Silent	SNP	G	G	A	rs199778809		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:108685630G>A	ENST00000312143.7	-	3	1473	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CMKLR1_ENST00000412676.1_Silent_p.T370T|CMKLR1_ENST00000552995.1_Silent_p.T368T|CMKLR1_ENST00000397688.2_Silent_p.T368T|CMKLR1_ENST00000550402.1_Silent_p.T370T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	370					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAAGCATGCCGGTCTCCCTCT	0.473													g|||	1	0.000199681	0.0	0.0	5008	,	,		21080	0.001		0.0	False		,,,				2504	0.0					ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(1108-1110)acC>acT		chemokine-like receptor 1			,,,	0,3866		0,0,1933	128.0	133.0	131.0		1110,1110,1110,1104	0.2	0.8	12		131	3,8261		0,3,4129	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CMKLR1	NM_001142343.1,NM_001142344.1,NM_001142345.1,NM_004072.2	,,,	0,3,6062	AA,AG,GG		0.0363,0.0,0.0247	,,,	370/374,370/374,370/374,368/372	108685630	3,12127	1933	4132	6065	SO:0001819	synonymous_variant	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685630G>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.1110C>T	12.37:g.108685630G>A						CMKLR1_ENST00000550402.1_Silent_p.T370T|CMKLR1_ENST00000397688.2_Silent_p.T368T|CMKLR1_ENST00000552995.1_Silent_p.T368T|CMKLR1_ENST00000412676.1_Silent_p.T370T	p.T370T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	1473	-			370					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	c.1110C>T	CCDS44965.1																																																																																				0.473	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			47	84	0	0	0	1	0	47	84				
PLXDC1	57125	broad.mit.edu	37	17	37263766	37263766	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:37263766A>G	ENST00000315392.4	-	6	816	c.605T>C	c.(604-606)gTg>gCg	p.V202A	PLXDC1_ENST00000394316.2_Missense_Mutation_p.V202A|PLXDC1_ENST00000444911.2_Missense_Mutation_p.V162A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.V129A	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	202					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCACTGAACCACAAAGACTGT	0.582																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(604-606)gTg>gCg		plexin domain containing 1							68.0	59.0	62.0					17																	37263766		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37263766A>G	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.605T>C	17.37:g.37263766A>G	ENSP00000323927:p.Val202Ala					PLXDC1_ENST00000394316.2_Missense_Mutation_p.V202A|PLXDC1_ENST00000444911.2_Missense_Mutation_p.V162A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.V129A	p.V202A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			6	816	-			202					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.605T>C	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625399	0.46840	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.4	5.4	0.78164	.	0.288300	0.33272	N	0.005095	T	0.67878	0.2940	M	0.62723	1.935	0.48511	D	0.999666	P	0.45348	0.856	B	0.34991	0.193	T	0.69928	-0.5012	10	0.33141	T	0.24	-6.3428	14.2544	0.66040	1.0:0.0:0.0:0.0	.	202	Q8IUK5	PXDC1_HUMAN	A	202;129;129;162;202;129	ENSP00000323927:V202A;ENSP00000441881:V129A;ENSP00000409687:V162A;ENSP00000377851:V202A;ENSP00000393227:V129A	ENSP00000323927:V202A	V	-	2	0	PLXDC1	34517292	1.000000	0.71417	0.967000	0.41034	0.748000	0.42578	9.095000	0.94175	2.052000	0.61016	0.459000	0.35465	GTG		0.582	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		13	31	0	0	0	1	0	13	31				
FSIP2	401024	broad.mit.edu	37	2	186678685	186678685	+	Silent	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:186678685A>G	ENST00000424728.1	+	18	20241	c.20241A>G	c.(20239-20241)agA>agG	p.R6747R	FSIP2_ENST00000343098.5_Silent_p.R6836R			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6747										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGTTAAAAGAGCTGTTGCTG	0.433																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(20506-20508)agA>agG		fibrous sheath interacting protein 2							72.0	69.0	70.0					2																	186678685		1968	4139	6107	SO:0001819	synonymous_variant	401024							g.chr2:186678685A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20241A>G	2.37:g.186678685A>G						FSIP2_ENST00000424728.1_Silent_p.R6747R	p.R6836R	NM_173651.2	NP_775922.2					18	20508	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.20508A>G																																																																																					0.433	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		41	64	0	0	0	1	0	41	64				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			101927755							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	30	0	0	0	1	0	4	30				
PRG4	10216	broad.mit.edu	37	1	186276381	186276381	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276381C>T	ENST00000445192.2	+	7	1575	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	PRG4_ENST00000367483.4_Silent_p.T469T|PRG4_ENST00000367486.3_Silent_p.T467T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T417T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	510	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1528-1530)acC>acT		proteoglycan 4							119.0	114.0	116.0					1																	186276381		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276381C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1530C>T	1.37:g.186276381C>T						PRG4_ENST00000367486.3_Silent_p.T467T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T417T|PRG4_ENST00000367483.4_Silent_p.T469T	p.T510T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1575	+			510			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1530C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	205	0	0	0	1	0	11	205				
MKS1	54903	broad.mit.edu	37	17	56290379	56290379	+	Silent	SNP	C	C	T	rs375557871		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:56290379C>T	ENST00000393119.2	-	8	896	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MKS1_ENST00000546108.1_Silent_p.P71P|MKS1_ENST00000537529.2_Silent_p.P264P|MKS1_ENST00000313863.6_Silent_p.P274P|MKS1_ENST00000337050.7_Silent_p.P274P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	274					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTCCTCCGGCTGTGCGT	0.537																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(820-822)ccG>ccA		Meckel syndrome, type 1		C	,	1,4049		0,1,2024	102.0	111.0	108.0		792,822	-11.8	0.2	17		108	0,8368		0,0,4184	no	coding-synonymous,coding-synonymous	MKS1	NM_001165927.1,NM_017777.3	,	0,1,6208	TT,TC,CC		0.0,0.0247,0.0081	,	264/550,274/560	56290379	1,12417	2025	4184	6209	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56290379C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.822G>A	17.37:g.56290379C>T						MKS1_ENST00000537529.2_Silent_p.P264P|MKS1_ENST00000546108.1_Silent_p.P71P|MKS1_ENST00000313863.6_Silent_p.P274P|MKS1_ENST00000337050.7_Silent_p.P274P	p.P274P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			8	896	-			274					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.822G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577117	0.13686	2.47E-4	0.0	ENSG00000011143	ENST00000313863	.	.	.	5.9	-11.8	0.00035	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74234	-0.3731	4	.	.	.	-12.9325	15.3571	0.74434	0.2138:0.687:0.0:0.0992	.	.	.	.	Q	275	.	.	R	-	2	0	MKS1	53645378	0.000000	0.05858	0.169000	0.22859	0.714000	0.41099	-2.514000	0.00956	-3.018000	0.00270	-1.912000	0.00520	CGG		0.537	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		28	75	0	0	0	1	0	28	75				
PLXNA2	5362	broad.mit.edu	37	1	208218411	208218411	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218411C>A	ENST00000367033.3	-	19	4397		c.e19+1			NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCTCACTCACCATGACCTTG	0.577																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e19+1		plexin A2							110.0	91.0	98.0					1																	208218411		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218411C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3639+1G>T	1.37:g.208218411C>A								NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4397	-								A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Splice_Site	SNP	ENST00000367033.3	37		CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509834	0.85282	.	.	ENSG00000076356	ENST00000367033	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXNA2	206285034	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.538000	0.82048	2.434000	0.82447	0.563000	0.77884	.		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Intron	12	64	1	0	0.00010058	1	0.000104424	12	64				
HIST1H2BC	8347	broad.mit.edu	37	6	26123867	26123867	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26123867G>C	ENST00000314332.5	-	1	271	c.266C>G	c.(265-267)aCc>aGc	p.T89S	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.T89S			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	89					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGAGGTGATGGTCGAGCGCTT	0.607																																						ENST00000314332.5																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(265-267)aCc>aGc		histone cluster 1, H2bc							85.0	89.0	87.0					6																	26123867		2203	4297	6500	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123867G>C	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.266C>G	6.37:g.26123867G>C	ENSP00000321744:p.Thr89Ser					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.T89S	p.T89S			P62807	H2B1C_HUMAN			1	271	-			89					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.266C>G	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.968626	0.92855	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.38887	1.11;1.11	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	0.000000	0.40222	U	0.001152	T	0.37128	0.0992	.	.	.	0.40373	D	0.979362	P	0.35433	0.501	B	0.40228	0.323	T	0.35201	-0.9798	9	0.72032	D	0.01	.	18.9929	0.92801	0.0:0.0:1.0:0.0	.	89	P62807	H2B1C_HUMAN	S	89	ENSP00000321744:T89S;ENSP00000380180:T89S	ENSP00000321744:T89S	T	-	2	0	HIST1H2BC	26231846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.961000	0.87903	2.799000	0.96334	0.650000	0.86243	ACC		0.607	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		103	136	0	0	0	1	0	103	136				
KCNB2	9312	broad.mit.edu	37	8	73480359	73480359	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:73480359G>T	ENST00000523207.1	+	2	978	c.390G>T	c.(388-390)gaG>gaT	p.E130D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGATTGATGAGATCTACTTGG	0.448																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(388-390)gaG>gaT		potassium voltage-gated channel, Shab-related subfamily, member 2							97.0	102.0	100.0					8																	73480359		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480359G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.390G>T	8.37:g.73480359G>T	ENSP00000430846:p.Glu130Asp						p.E130D	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	978	+	Breast(64;0.137)		130					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.390G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790811	0.70452	.	.	ENSG00000182674	ENST00000523207	T	0.78364	-1.17	5.89	4.08	0.47627	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.505350	0.14609	U	0.309128	T	0.80210	0.4581	L	0.46614	1.455	0.43808	D	0.996362	P	0.41080	0.737	P	0.55303	0.773	T	0.77872	-0.2426	10	0.51188	T	0.08	.	7.8907	0.29675	0.3303:0.0:0.6697:0.0	.	130	Q92953	KCNB2_HUMAN	D	130	ENSP00000430846:E130D	ENSP00000430846:E130D	E	+	3	2	KCNB2	73642913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.847000	0.48270	1.484000	0.48361	0.655000	0.94253	GAG		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		67	72	1	0	9.5628e-27	1	1.13776e-26	67	72				
NEK9	91754	broad.mit.edu	37	14	75553754	75553754	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:75553754C>T	ENST00000238616.5	-	21	2942	c.2784G>A	c.(2782-2784)caG>caA	p.Q928Q	NEK9_ENST00000555763.1_5'Flank	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	928					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGTTCAACTTCTGCAGTTGGG	0.413																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2782-2784)caG>caA		NIMA-related kinase 9							122.0	126.0	125.0					14																	75553754		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75553754C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2784G>A	14.37:g.75553754C>T							p.Q928Q	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	21	2942	-			928					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2784G>A	CCDS9839.1																																																																																				0.413	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		62	173	0	0	0	1	0	62	173				
EPHA7	2045	broad.mit.edu	37	6	93974414	93974414	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:93974414G>A	ENST00000369303.4	-	8	1824	c.1640C>T	c.(1639-1641)gCt>gTt	p.A547V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	547					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTGGAGACAGCTGTAGCTGT	0.378																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1639-1641)gCt>gTt		EPH receptor A7							60.0	56.0	57.0					6																	93974414		2202	4299	6501	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93974414G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1640C>T	6.37:g.93974414G>A	ENSP00000358309:p.Ala547Val						p.A547V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	8	1824	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	547					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1640C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607688	0.66558	.	.	ENSG00000135333	ENST00000369303	T	0.72942	-0.7	5.49	5.49	0.81192	.	0.270679	0.35903	N	0.002915	T	0.48554	0.1506	L	0.31065	0.9	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.42327	-0.9458	10	0.27082	T	0.32	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	547;542;547	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	547	ENSP00000358309:A547V	ENSP00000358309:A547V	A	-	2	0	EPHA7	94031135	1.000000	0.71417	0.985000	0.45067	0.817000	0.46193	6.393000	0.73217	2.584000	0.87258	0.655000	0.94253	GCT		0.378	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	68	0	0	0	1	0	8	68				
VPS13D	55187	broad.mit.edu	37	1	12322007	12322007	+	Silent	SNP	G	G	A	rs372184458		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:12322007G>A	ENST00000358136.3	+	13	1594	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	VPS13D_ENST00000356315.4_Silent_p.T488T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTATGAACACGTATACAAAGC	0.423																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(1462-1464)acG>acA		vacuolar protein sorting 13 homolog D (S. cerevisiae)		G	,	0,4406		0,0,2203	161.0	139.0	146.0		1464,1464	-10.9	0.0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	488/4389,488/4364	12322007	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12322007G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1464G>A	1.37:g.12322007G>A						VPS13D_ENST00000356315.4_Silent_p.T488T	p.T488T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	13	1594	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	488						Silent	SNP	ENST00000358136.3	37	c.1464G>A	CCDS30588.1																																																																																				0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	131	0	0	0	1	0	45	131				
TMEM81	388730	broad.mit.edu	37	1	205053173	205053173	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:205053173G>T	ENST00000367167.3	-	1	472	c.276C>A	c.(274-276)ttC>ttA	p.F92L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	92	Ig-like.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGAGAATGGTGAAATGGAGCA	0.507																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(274-276)ttC>ttA		transmembrane protein 81							121.0	115.0	117.0					1																	205053173		2203	4300	6503	SO:0001583	missense	388730					integral to membrane		g.chr1:205053173G>T	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.276C>A	1.37:g.205053173G>T	ENSP00000356135:p.Phe92Leu						p.F92L	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	472	-	all_cancers(21;0.144)|Breast(84;0.0437)		92			Ig-like.		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	c.276C>A	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345375	0.61073	.	.	ENSG00000174529	ENST00000367167	T	0.38240	1.15	5.5	5.5	0.81552	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.222920	0.39759	N	0.001275	T	0.34164	0.0888	L	0.55103	1.725	0.41643	D	0.98908	P	0.45474	0.859	B	0.40782	0.34	T	0.12682	-1.0538	10	0.08599	T	0.76	-16.8036	17.5451	0.87859	0.0:0.0:1.0:0.0	.	92	Q6P7N7	TMM81_HUMAN	L	92	ENSP00000356135:F92L	ENSP00000356135:F92L	F	-	3	2	TMEM81	203319796	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.240000	0.72363	2.758000	0.94735	0.563000	0.77884	TTC		0.507	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		16	60	1	0	5.03518e-11	1	5.7394e-11	16	60				
DPRX	503834	broad.mit.edu	37	19	54140232	54140232	+	Missense_Mutation	SNP	G	G	T	rs370961873		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:54140232G>T	ENST00000376650.1	+	3	617	c.566G>T	c.(565-567)cGa>cTa	p.R189L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AACCAAAGTCGAGAGAGATGA	0.443																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(565-567)cGa>cTa		divergent-paired related homeobox							100.0	97.0	98.0					19																	54140232		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140232G>T		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.566G>T	19.37:g.54140232G>T	ENSP00000365838:p.Arg189Leu						p.R189L	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	617	+	Ovarian(34;0.19)		189						Missense_Mutation	SNP	ENST00000376650.1	37	c.566G>T	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	g	2.992	-0.207956	0.06180	.	.	ENSG00000204595	ENST00000376650	D	0.95272	-3.66	1.27	-2.54	0.06307	.	.	.	.	.	D	0.85375	0.5682	N	0.14661	0.345	0.09310	N	1	B	0.18968	0.032	B	0.09377	0.004	T	0.67722	-0.5597	9	0.72032	D	0.01	.	3.8563	0.08976	0.4698:0.2492:0.281:0.0	.	189	A6NFQ7	DPRX_HUMAN	L	189	ENSP00000365838:R189L	ENSP00000365838:R189L	R	+	2	0	DPRX	58832044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.443000	0.02405	-2.120000	0.00826	-1.073000	0.02249	CGA		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		23	140	1	0	1.9806e-07	1	2.15225e-07	23	140				
RYR3	6263	broad.mit.edu	37	15	34118906	34118906	+	Missense_Mutation	SNP	G	G	A	rs374140172		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:34118906G>A	ENST00000389232.4	+	84	11268	c.11198G>A	c.(11197-11199)cGt>cAt	p.R3733H	RYR3_ENST00000415757.3_Missense_Mutation_p.R3728H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3733					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTTCACGCGTGATCTCTTT	0.423																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11197-11199)cGt>cAt		ryanodine receptor 3		G	HIS/ARG	1,3909		0,1,1954	176.0	168.0	171.0		11198	4.2	1.0	15		171	0,8290		0,0,4145	no	missense	RYR3	NM_001036.3	29	0,1,6099	AA,AG,GG		0.0,0.0256,0.0082	possibly-damaging	3733/4871	34118906	1,12199	1955	4145	6100	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34118906G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11198G>A	15.37:g.34118906G>A	ENSP00000373884:p.Arg3733His					RYR3_ENST00000415757.3_Missense_Mutation_p.R3728H	p.R3733H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	84	11268	+		all_lung(180;7.18e-09)	3733					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11198G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614471	0.46631	2.56E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97279	-3.65;-4.32	5.15	4.23	0.50019	RyR/IP3R Homology associated domain (1);	0.352891	0.26086	N	0.026433	D	0.91965	0.7455	N	0.11560	0.145	0.21802	N	0.999536	B;P	0.35780	0.352;0.52	B;B	0.40444	0.091;0.329	D	0.86404	0.1744	10	0.45353	T	0.12	.	7.8276	0.29324	0.2488:0.0:0.7512:0.0	.	3728;3733	Q15413-2;Q15413	.;RYR3_HUMAN	H	3733;3732;3729	ENSP00000373884:R3733H;ENSP00000399610:R3732H	ENSP00000354735:R3729H	R	+	2	0	RYR3	31906198	0.917000	0.31117	0.996000	0.52242	0.958000	0.62258	4.758000	0.62220	1.373000	0.46208	0.650000	0.86243	CGT		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			53	156	0	0	0	1	0	53	156				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	23	0	0	0	1	0	34	23				
LARP1	23367	broad.mit.edu	37	5	154179150	154179150	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:154179150G>T	ENST00000336314.4	+	9	1170		c.e9-1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCCTTCAGGCCCTAAAGG	0.483																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.e9-1		La ribonucleoprotein domain family, member 1							72.0	78.0	76.0					5																	154179150		2203	4300	6503	SO:0001630	splice_region_variant	23367						protein binding|RNA binding	g.chr5:154179150G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1147-1G>T	5.37:g.154179150G>T								NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1170	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)						O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	SNP	ENST00000336314.4	37		CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922360	0.73213	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP1	154159343	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.787000	0.99055	2.723000	0.93209	0.655000	0.94253	.		0.483	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	16	82	1	0	5.01169e-05	1	5.23658e-05	16	82				
C1orf112	55732	broad.mit.edu	37	1	169821028	169821028	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:169821028A>G	ENST00000286031.6	+	23	3015	c.2315A>G	c.(2314-2316)gAa>gGa	p.E772G	C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E772G	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	772										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCTGGGAACCCTTTGCT	0.433																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2314-2316)gAa>gGa		chromosome 1 open reading frame 112							106.0	102.0	104.0					1																	169821028		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169821028A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2315A>G	1.37:g.169821028A>G	ENSP00000286031:p.Glu772Gly					C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E772G	p.E772G	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			23	3015	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		772					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.2315A>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.442805	0.25987	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.46819	0.86;0.86	5.57	-1.61	0.08399	.	0.721121	0.14454	N	0.318591	T	0.10680	0.0261	L	0.31294	0.92	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.19745	-1.0296	10	0.40728	T	0.16	0.8339	1.3525	0.02176	0.387:0.2498:0.2414:0.1218	.	714;772	B4DGF2;Q9NSG2	.;CA112_HUMAN	G	772	ENSP00000352276:E772G;ENSP00000286031:E772G	ENSP00000286031:E772G	E	+	2	0	C1orf112	168087652	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.199000	0.09491	-0.179000	0.10654	0.528000	0.53228	GAA		0.433	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		6	78	0	0	0	1	0	6	78				
NFATC2	4773	broad.mit.edu	37	20	50049221	50049221	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50049221A>G	ENST00000396009.3	-	9	2324	c.2105T>C	c.(2104-2106)cTg>cCg	p.L702P	NFATC2_ENST00000371564.3_Missense_Mutation_p.L702P|NFATC2_ENST00000414705.1_Missense_Mutation_p.L682P|NFATC2_ENST00000609507.1_Missense_Mutation_p.L483P|NFATC2_ENST00000610033.1_Missense_Mutation_p.L483P|NFATC2_ENST00000609943.1_Missense_Mutation_p.L682P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	702					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGCTCCCCAGGCCTCCATG	0.652																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2104-2106)cTg>cCg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							24.0	28.0	26.0					20																	50049221		2160	4253	6413	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50049221A>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2105T>C	20.37:g.50049221A>G	ENSP00000379330:p.Leu702Pro					NFATC2_ENST00000396009.3_Missense_Mutation_p.L702P|NFATC2_ENST00000414705.1_Missense_Mutation_p.L682P	p.L702P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2324	-	Hepatocellular(150;0.248)		702					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2105T>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324536	0.60634	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.19394	2.15;2.15;2.17	5.31	4.21	0.49690	.	0.093726	0.44097	N	0.000482	T	0.40839	0.1133	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.76071	0.98;0.942;0.987;0.982	T	0.12041	-1.0563	10	0.48119	T	0.1	-16.7006	11.1425	0.48411	0.9276:0.0:0.0724:0.0	.	682;682;702;702	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	P	702;702;682	ENSP00000360619:L702P;ENSP00000379330:L702P;ENSP00000396471:L682P	ENSP00000360619:L702P	L	-	2	0	NFATC2	49482628	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.962000	0.93254	0.860000	0.35481	-0.451000	0.05528	CTG		0.652	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		16	67	0	0	0	1	0	16	67				
MYO18B	84700	broad.mit.edu	37	22	26348276	26348276	+	Missense_Mutation	SNP	G	G	A	rs374817192		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:26348276G>A	ENST00000407587.2	+	38	6029	c.5860G>A	c.(5860-5862)Gag>Aag	p.E1954K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E1953K|MYO18B_ENST00000335473.7_Missense_Mutation_p.E1953K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1953	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGCGCATCGAGTACCTGGA	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5857-5859)Gag>Aag		myosin XVIIIB							60.0	64.0	63.0					22																	26348276		2069	4207	6276	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26348276G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5860G>A	22.37:g.26348276G>A	ENSP00000386096:p.Glu1954Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E1954K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1953K	p.E1953K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			38	6107	+			1953			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5857G>A		.	.	.	.	.	.	.	.	.	.	G	17.79	3.475514	0.63737	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.31;-2.31;-2.32	5.49	3.33	0.38152	.	0.426384	0.23650	N	0.045937	T	0.82167	0.4978	L	0.47190	1.495	0.28143	N	0.92969	P;P;P;P	0.47841	0.777;0.669;0.901;0.777	B;B;B;B	0.37601	0.163;0.078;0.254;0.163	T	0.76342	-0.2994	10	0.87932	D	0	.	14.9508	0.71071	0.0:0.2718:0.7282:0.0	.	1466;1953;1954;1953	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	1953;1953;1954	ENSP00000441229:E1953K;ENSP00000334563:E1953K;ENSP00000386096:E1954K	ENSP00000334563:E1953K	E	+	1	0	MYO18B	24678276	0.217000	0.23597	0.966000	0.40874	0.800000	0.45204	0.608000	0.24223	0.644000	0.30656	0.655000	0.94253	GAG		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	14	0	0	0	1	0	8	14				
CA7	766	broad.mit.edu	37	16	66887318	66887318	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:66887318G>A	ENST00000338437.2	+	7	821	c.712G>A	c.(712-714)Gat>Aat	p.D238N	CA7_ENST00000394069.3_Missense_Mutation_p.D182N|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	238					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CTCGGAGGACGATGAGAGGAT	0.592																																						ENST00000394069.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(544-546)Gat>Aat		carbonic anhydrase VII							78.0	68.0	72.0					16																	66887318		2200	4300	6500	SO:0001583	missense	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66887318G>A		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.712G>A	16.37:g.66887318G>A	ENSP00000345659:p.Asp238Asn					RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Missense_Mutation_p.D238N	p.D182N	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	7	975	+		Ovarian(137;0.0563)	238					Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.544G>A	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106810	0.56291	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.63580	-0.05;-0.05	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.159081	0.56097	D	0.000029	T	0.54532	0.1864	L	0.42686	1.345	0.58432	D	0.999995	P	0.41673	0.759	B	0.33521	0.165	T	0.62959	-0.6743	10	0.87932	D	0	3.0E-4	18.2032	0.89846	0.0:0.0:1.0:0.0	.	238	P43166	CAH7_HUMAN	N	238;182	ENSP00000345659:D238N;ENSP00000377632:D182N	ENSP00000345659:D238N	D	+	1	0	CA7	65444819	1.000000	0.71417	0.996000	0.52242	0.270000	0.26580	9.284000	0.95882	2.720000	0.93068	0.561000	0.74099	GAT		0.592	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			13	58	0	0	0	1	0	13	58				
FOLH1B	219595	broad.mit.edu	37	11	89424049	89424049	+	RNA	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:89424049G>C	ENST00000532352.1	+	0	1512							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTCTGTAGGAAACAAACA	0.318																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							66.0	73.0	71.0					11																	89424049		2201	4298	6499			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424049G>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424049G>C										Q9HBA9	FOH1B_HUMAN			0	1512	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.318	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		6	189	0	0	0	1	0	6	189				
SORT1	6272	broad.mit.edu	37	1	109893592	109893592	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:109893592T>C	ENST00000256637.6	-	6	799	c.741A>G	c.(739-741)ggA>ggG	p.G247G	SORT1_ENST00000538502.1_Silent_p.G111G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	247					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.G247G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTTCCCATTTTCCCCCAAAAT	0.418																																						ENST00000256637.6																			1	Substitution - coding silent(1)	p.G247G(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(739-741)ggA>ggG		sortilin 1							184.0	177.0	179.0					1																	109893592		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109893592T>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.741A>G	1.37:g.109893592T>C						SORT1_ENST00000538502.1_Silent_p.G111G	p.G247G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	6	799	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	247					B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.741A>G	CCDS798.1																																																																																				0.418	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		7	232	0	0	0	1	0	7	232				
SSPO	23145	broad.mit.edu	37	7	149514780	149514780	+	RNA	SNP	C	C	G	rs374846709		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:149514780C>G	ENST00000378016.2	+	0	11322							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCAGCCCCTCGGGCCTGGAG	0.652																																						ENST00000378016.2																			0													SCO-spondin							21.0	24.0	23.0					7																	149514780		2073	4210	6283			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149514780C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149514780C>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11322	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	15	0	0	0	1	0	4	15				
KCNS2	3788	broad.mit.edu	37	8	99441164	99441164	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:99441164G>A	ENST00000287042.4	+	2	1307	c.957G>A	c.(955-957)ggG>ggA	p.G319G	KCNS2_ENST00000521839.1_Silent_p.G319G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	319					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCTCCCTGGGGGCCACTTTGA	0.567																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(955-957)ggG>ggA		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							85.0	75.0	78.0					8																	99441164		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441164G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.957G>A	8.37:g.99441164G>A						KCNS2_ENST00000521839.1_Silent_p.G319G	p.G319G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1307	+	Breast(36;2.4e-06)		319					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.957G>A	CCDS6279.1																																																																																				0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		40	40	0	0	0	1	0	40	40				
SLC24A3	57419	broad.mit.edu	37	20	19560691	19560691	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:19560691C>T	ENST00000328041.6	+	4	593	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	132					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGACTTCTTCGTCCCTTCCT	0.502																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(394-396)ttC>ttT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							438.0	301.0	348.0					20																	19560691		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19560691C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.396C>T	20.37:g.19560691C>T							p.F132F	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			4	593	+			132					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.396C>T	CCDS13140.1																																																																																				0.502	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		23	86	0	0	0	1	0	23	86				
LRCH1	23143	broad.mit.edu	37	13	47266765	47266765	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:47266765G>T	ENST00000389798.3	+	8	1306	c.1109G>T	c.(1108-1110)aGc>aTc	p.S370I	LRCH1_ENST00000389797.3_Missense_Mutation_p.S370I|LRCH1_ENST00000311191.6_Missense_Mutation_p.S370I	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	370										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CATCGCCTTAGCCCCGTTAAA	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1108-1110)aGc>aTc		leucine-rich repeats and calponin homology (CH) domain containing 1							117.0	96.0	103.0					13																	47266765		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266765G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1109G>T	13.37:g.47266765G>T	ENSP00000374448:p.Ser370Ile					LRCH1_ENST00000389797.3_Missense_Mutation_p.S370I|LRCH1_ENST00000389798.3_Missense_Mutation_p.S370I	p.S370I	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1338	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	370					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1109G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430775	0.43122	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.55052	0.54;0.59;0.56	5.93	5.08	0.68730	.	0.307471	0.38959	N	0.001505	T	0.48822	0.1521	L	0.54323	1.7	0.27092	N	0.962831	B;B;B;B	0.31790	0.23;0.004;0.34;0.003	B;B;B;B	0.35470	0.1;0.006;0.203;0.008	T	0.51663	-0.8677	10	0.56958	D	0.05	-6.6474	9.4558	0.38753	0.0803:0.183:0.7367:0.0	.	370;370;370;370	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	I	370	ENSP00000308493:S370I;ENSP00000374448:S370I;ENSP00000374447:S370I	ENSP00000308493:S370I	S	+	2	0	LRCH1	46164766	1.000000	0.71417	0.993000	0.49108	0.673000	0.39480	2.623000	0.46435	1.462000	0.47948	0.655000	0.94253	AGC		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		6	100	1	0	0.248553	1	0.248553	6	100				
PRUNE	58497	broad.mit.edu	37	1	150997141	150997141	+	Silent	SNP	C	C	T	rs112180991	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:150997141C>T	ENST00000271620.3	+	4	546	c.390C>T	c.(388-390)atC>atT	p.I130I	PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368934.1_5'Flank|PRUNE_ENST00000271619.8_Intron|RNU6-884P_ENST00000363889.1_RNA|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	130						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCGACCCATCGAGCCGAAAC	0.572											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271620.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(388-390)atC>atT		prune exopolyphosphatase		C		0,4406		0,0,2203	107.0	92.0	97.0		390	-10.6	0.5	1	dbSNP_132	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRUNE	NM_021222.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		130/454	150997141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:150997141C>T	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.390C>T	1.37:g.150997141C>T			OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron	p.I130I	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	546	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		130					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	ENST00000271620.3	37	c.390C>T	CCDS977.1																																																																																				0.572	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		10	122	0	0	0	1	0	10	122				
MKL1	57591	broad.mit.edu	37	22	40819563	40819563	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:40819563T>C	ENST00000355630.3	-	9	1194	c.604A>G	c.(604-606)Aag>Gag	p.K202E	MKL1_ENST00000407029.1_Missense_Mutation_p.K202E|MKL1_ENST00000402042.1_Intron|MKL1_ENST00000396617.3_Missense_Mutation_p.K202E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	202	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGGTGGACTTGGCAGTGGGG	0.562			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(604-606)Aag>Gag		megakaryoblastic leukemia (translocation) 1							102.0	85.0	91.0					22																	40819563		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40819563T>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.604A>G	22.37:g.40819563T>C	ENSP00000347847:p.Lys202Glu					MKL1_ENST00000402042.1_Intron|MKL1_ENST00000407029.1_Missense_Mutation_p.K202E|MKL1_ENST00000355630.3_Missense_Mutation_p.K202E	p.K202E			Q969V6	MKL1_HUMAN			9	1194	-			202			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.604A>G	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621231	0.87460	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000407029	T;T;T	0.47528	0.85;0.84;0.85	5.62	5.62	0.85841	.	0.124551	0.53938	D	0.000054	T	0.64538	0.2607	M	0.65975	2.015	0.51767	D	0.99993	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.61471	-0.7056	10	0.24483	T	0.36	-29.3648	14.3883	0.66961	0.0:0.0:0.0:1.0	.	202;202	E7ER32;Q969V6	.;MKL1_HUMAN	E	202	ENSP00000347847:K202E;ENSP00000379861:K202E;ENSP00000385835:K202E	ENSP00000347847:K202E	K	-	1	0	MKL1	39149509	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.582000	0.67477	2.137000	0.66172	0.459000	0.35465	AAG		0.562	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		11	64	0	0	0	1	0	11	64				
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5296-5298)Cgc>Tgc		pecanex-like 3 (Drosophila)							25.0	31.0	29.0					11																	65403111		2172	4256	6428	SO:0001583	missense	399909					integral to membrane		g.chr11:65403111C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5296C>T	11.37:g.65403111C>T	ENSP00000347931:p.Arg1766Cys						p.R1766C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			32	5835	+			1766					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5296C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511440	0.64522	.	.	ENSG00000197136	ENST00000355703	T	0.64438	-0.1	4.11	4.11	0.48088	.	0.063133	0.64402	D	0.000011	T	0.81795	0.4898	M	0.93283	3.4	0.46542	D	0.999092	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.84802	0.0785	10	0.87932	D	0	.	9.1807	0.37141	0.2168:0.7832:0.0:0.0	.	653;1766	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1766	ENSP00000347931:R1766C	ENSP00000347931:R1766C	R	+	1	0	PCNXL3	65159687	0.991000	0.36638	0.997000	0.53966	0.900000	0.52787	1.615000	0.36922	2.142000	0.66516	0.462000	0.41574	CGC		0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		5	37	0	0	0	1	0	5	37				
HIST1H3G	8355	broad.mit.edu	37	6	26271503	26271503	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26271503T>A	ENST00000305910.3	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGAGGTTTCTTCACGCCGCC	0.642																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(109-111)aAg>aTg		histone cluster 1, H3g							38.0	43.0	42.0					6																	26271503		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271503T>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.110A>T	6.37:g.26271503T>A	ENSP00000439660:p.Lys37Met						p.K37M	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	109	-			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.110A>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.338752	0.60963	.	.	ENSG00000256018	ENST00000305910	T	0.56776	0.44	4.56	4.56	0.56223	.	.	.	.	.	T	0.57198	0.2037	.	.	.	0.40515	D	0.980774	.	.	.	.	.	.	T	0.64786	-0.6325	6	0.87932	D	0	.	13.4288	0.61042	0.0:0.0:0.0:1.0	.	.	.	.	M	37	ENSP00000439660:K37M	ENSP00000439660:K37M	K	-	2	0	HIST1H3G	26379482	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.782000	0.85680	1.838000	0.53458	0.460000	0.39030	AAG		0.642	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		28	97	0	0	0	1	0	28	97				
OXR1	55074	broad.mit.edu	37	8	107719171	107719171	+	Silent	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:107719171A>G	ENST00000442977.2	+	8	1524	c.1425A>G	c.(1423-1425)gcA>gcG	p.A475A	OXR1_ENST00000531443.1_Silent_p.A474A|OXR1_ENST00000497705.1_Silent_p.A407A|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000445937.1_Silent_p.A474A|OXR1_ENST00000517566.2_Silent_p.A474A|OXR1_ENST00000312046.6_Silent_p.A467A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	475					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGGAAACAGCAGAATTTAAAC	0.373																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1420-1422)gcA>gcG		oxidation resistance 1							69.0	68.0	69.0					8																	107719171		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719171A>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1425A>G	8.37:g.107719171A>G						OXR1_ENST00000312046.6_Silent_p.A467A|OXR1_ENST00000497705.1_Silent_p.A407A|OXR1_ENST00000442977.2_Silent_p.A475A|OXR1_ENST00000531443.1_Silent_p.A474A|OXR1_ENST00000517566.2_Silent_p.A474A|OXR1_ENST00000452423.2_5'UTR	p.A474A	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		9	1683	+			475					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.1422A>G	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	A	2.025	-0.423887	0.04734	.	.	ENSG00000164830	ENST00000519415	.	.	.	5.62	3.17	0.36434	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44636	-0.9315	4	.	.	.	-21.2424	5.78	0.18301	0.7159:0.1413:0.1428:0.0	.	.	.	.	R	188	.	.	Q	+	2	0	OXR1	107788347	0.931000	0.31567	0.109000	0.21407	0.357000	0.29423	1.878000	0.39608	0.386000	0.24997	0.482000	0.46254	CAG		0.373	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		10	44	0	0	0	1	0	10	44				
EMC2	9694	broad.mit.edu	37	8	109491313	109491313	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:109491313G>T	ENST00000220853.3	+	10	816	c.781G>T	c.(781-783)Gct>Tct	p.A261S	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	261						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TAGTTGGGCAGCTAGTCAAAT	0.313																																						ENST00000220853.3																			0											c.(781-783)Gct>Tct		ER membrane protein complex subunit 2							141.0	126.0	131.0					8																	109491313		2203	4300	6503	SO:0001583	missense	9694							g.chr8:109491313G>T	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.781G>T	8.37:g.109491313G>T	ENSP00000220853:p.Ala261Ser					EMC2_ENST00000520294.1_3'UTR	p.A261S	NM_014673.3	NP_055488.1					10	816	+								Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.781G>T	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402015	0.25291	.	.	ENSG00000104412	ENST00000220853	.	.	.	5.94	5.94	0.96194	.	0.047627	0.85682	D	0.000000	T	0.42854	0.1221	L	0.28556	0.865	0.58432	D	0.999999	B	0.18863	0.031	B	0.16289	0.015	T	0.29852	-0.9998	9	0.09338	T	0.73	-9.2143	13.5417	0.61679	0.0709:0.0:0.9291:0.0	.	261	Q15006	TTC35_HUMAN	S	261	.	ENSP00000220853:A261S	A	+	1	0	TTC35	109560489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	2.812000	0.96745	0.557000	0.71058	GCT		0.313	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		4	63	1	0	0.184627	1	0.185767	4	63				
KDM3A	55818	broad.mit.edu	37	2	86705091	86705091	+	Silent	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:86705091T>A	ENST00000409556.1	+	14	2396	c.2031T>A	c.(2029-2031)ccT>ccA	p.P677P	KDM3A_ENST00000312912.5_Silent_p.P677P|KDM3A_ENST00000409064.1_Silent_p.P677P|KDM3A_ENST00000542128.1_Silent_p.P625P			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	677					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGGTGTGTCCTCGGTGTGGGT	0.507																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2029-2031)ccT>ccA		lysine (K)-specific demethylase 3A							246.0	217.0	226.0					2																	86705091		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705091T>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2031T>A	2.37:g.86705091T>A						KDM3A_ENST00000542128.1_Silent_p.P625P|KDM3A_ENST00000409064.1_Silent_p.P677P|KDM3A_ENST00000312912.5_Silent_p.P677P	p.P677P			Q9Y4C1	KDM3A_HUMAN			14	2396	+			677					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.2031T>A	CCDS1990.1																																																																																				0.507	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		5	144	0	0	0	1	0	5	144				
DRD5	1816	broad.mit.edu	37	4	9784102	9784102	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:9784102G>T	ENST00000304374.2	+	1	845	c.449G>T	c.(448-450)cGc>cTc	p.R150L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	150					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGCTACAAGCGCAAGATGACT	0.597																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(448-450)cGc>cTc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						37.0	36.0	36.0					4																	9784102		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784102G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.449G>T	4.37:g.9784102G>T	ENSP00000306129:p.Arg150Leu						p.R150L	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	845	+			150					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.449G>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	18.40	3.615580	0.66672	.	.	ENSG00000169676	ENST00000304374	T	0.38722	1.12	4.35	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.66506	2.035	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.56426	-0.7981	10	0.34782	T	0.22	.	11.3772	0.49735	0.0882:0.0:0.9118:0.0	.	150	P21918	DRD5_HUMAN	L	150	ENSP00000306129:R150L	ENSP00000306129:R150L	R	+	2	0	DRD5	9393200	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.157000	0.71846	1.043000	0.40175	0.305000	0.20034	CGC		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			10	19	1	0	2.17888e-05	1	2.29134e-05	10	19				
SSTR1	6751	broad.mit.edu	37	14	38679209	38679209	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:38679209G>A	ENST00000267377.2	+	3	1232	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	205					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCGACGGCACGGTGGCTTGCA	0.622																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(613-615)acG>acA		somatostatin receptor 1	Octreotide(DB00104)						74.0	69.0	71.0					14																	38679209		2203	4300	6503	SO:0001819	synonymous_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679209G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.615G>A	14.37:g.38679209G>A							p.T205T	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1232	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		205						Silent	SNP	ENST00000267377.2	37	c.615G>A	CCDS9666.1																																																																																				0.622	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			5	72	0	0	0	1	0	5	72				
WNT6	7475	broad.mit.edu	37	2	219736219	219736219	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:219736219C>T	ENST00000233948.3	+	3	531	c.314C>T	c.(313-315)aCg>aTg	p.T105M	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	105					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTCGGGAGACGGCCTTCGTG	0.701																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(313-315)aCg>aTg		wingless-type MMTV integration site family, member 6							19.0	21.0	20.0					2																	219736219		1954	3871	5825	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736219C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.314C>T	2.37:g.219736219C>T	ENSP00000233948:p.Thr105Met					WNT6_ENST00000486233.1_3'UTR	p.T105M	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	531	+		Renal(207;0.0474)	105					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.314C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	15.18	2.755795	0.49362	.	.	ENSG00000115596	ENST00000233948	T	0.77877	-1.13	4.74	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.57425	0.82	D	0.85354	0.1103	10	0.87932	D	0	.	11.954	0.52970	0.0:0.9157:0.0:0.0843	.	105	Q9Y6F9	WNT6_HUMAN	M	105	ENSP00000233948:T105M	ENSP00000233948:T105M	T	+	2	0	WNT6	219444463	1.000000	0.71417	0.570000	0.28473	0.001000	0.01503	5.864000	0.69575	1.007000	0.39238	-0.235000	0.12190	ACG		0.701	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		17	56	0	0	0	1	0	17	56				
POLQ	10721	broad.mit.edu	37	3	121228991	121228991	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:121228991G>C	ENST00000264233.5	-	11	1839	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	571					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGATTTCTCTGAATTCCTTGC	0.433								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1711-1713)Cag>Gag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							197.0	168.0	178.0					3																	121228991		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121228991G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1711C>G	3.37:g.121228991G>C	ENSP00000264233:p.Gln571Glu						p.Q571E	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	11	1839	-			571					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1711C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040414	0.08148	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.46819	0.86	4.86	3.97	0.46021	.	1.193680	0.06092	N	0.663851	T	0.22205	0.0535	N	0.02539	-0.55	0.20764	N	0.999858	B	0.02656	0.0	B	0.06405	0.002	T	0.13575	-1.0504	10	0.06236	T	0.91	.	9.3116	0.37908	0.0:0.3687:0.4966:0.1347	.	571	O75417	DPOLQ_HUMAN	E	194;571;707	ENSP00000264233:Q571E	ENSP00000264233:Q571E	Q	-	1	0	POLQ	122711681	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	0.384000	0.20668	0.999000	0.39023	0.460000	0.39030	CAG		0.433	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	170	0	0	0	1	0	5	170				
CHRNB3	1142	broad.mit.edu	37	8	42585743	42585743	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:42585743A>G	ENST00000289957.2	+	4	384	c.256A>G	c.(256-258)Aca>Gca	p.T86A		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	86					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	GCAGGAATGGACAGACCACAA	0.388																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(256-258)Aca>Gca		cholinergic receptor, nicotinic, beta 3 (neuronal)							102.0	92.0	95.0					8																	42585743		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42585743A>G	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.256A>G	8.37:g.42585743A>G	ENSP00000289957:p.Thr86Ala						p.T86A	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	384	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	86					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.256A>G	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.731328	0.30684	.	.	ENSG00000147432	ENST00000289957	T	0.78707	-1.2	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.239537	0.48767	D	0.000176	T	0.76285	0.3966	M	0.72479	2.2	0.34409	D	0.696133	B	0.22541	0.071	B	0.27500	0.08	T	0.77051	-0.2731	10	0.17832	T	0.49	.	14.6097	0.68507	1.0:0.0:0.0:0.0	.	86	Q05901	ACHB3_HUMAN	A	86	ENSP00000289957:T86A	ENSP00000289957:T86A	T	+	1	0	CHRNB3	42704900	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.126000	0.50477	2.142000	0.66516	0.529000	0.55759	ACA		0.388	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			12	34	0	0	0	1	0	12	34				
PFAS	5198	broad.mit.edu	37	17	8172143	8172143	+	Silent	SNP	C	C	T	rs370246611		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:8172143C>T	ENST00000314666.6	+	27	3808	c.3675C>T	c.(3673-3675)gcC>gcT	p.A1225A	PFAS_ENST00000545834.1_Silent_p.A801A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1225	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGGAGGGCGCCGTGCTGCCCG	0.697																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3673-3675)gcC>gcT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C		0,4404		0,0,2202	32.0	37.0	35.0		3675	-10.8	0.0	17		35	2,8588		0,2,4293	no	coding-synonymous	PFAS	NM_012393.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		1225/1339	8172143	2,12992	2202	4295	6497	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172143C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3675C>T	17.37:g.8172143C>T						PFAS_ENST00000545834.1_Silent_p.A801A	p.A1225A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			27	3808	+			1225			Glutamine amidotransferase type-1.		A6H8V8	Silent	SNP	ENST00000314666.6	37	c.3675C>T	CCDS11136.1																																																																																				0.697	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			17	81	0	0	0	1	0	17	81				
STRN3	29966	broad.mit.edu	37	14	31364645	31364645	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:31364645G>A	ENST00000357479.5	-	18	2562	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	STRN3_ENST00000355683.5_Missense_Mutation_p.A705V	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	789					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAGAGCATCAGCTCCTGCACT	0.388																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2113-2115)gCt>gTt		striatin, calmodulin binding protein 3							89.0	76.0	80.0					14																	31364645		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364645G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2366C>T	14.37:g.31364645G>A	ENSP00000350071:p.Ala789Val					STRN3_ENST00000357479.5_Missense_Mutation_p.A789V	p.A705V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2329	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		789					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2114C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130643	0.94473	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.81415	-1.49;-1.49	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045766	0.85682	D	0.000000	D	0.91925	0.7443	M	0.90814	3.15	0.80722	D	1	D;B	0.76494	0.999;0.295	D;B	0.77557	0.99;0.142	D	0.93152	0.6550	10	0.87932	D	0	-1.2457	19.43	0.94760	0.0:0.0:1.0:0.0	.	705;789	Q13033-2;Q13033	.;STRN3_HUMAN	V	705;789	ENSP00000347909:A705V;ENSP00000350071:A789V	ENSP00000347909:A705V	A	-	2	0	STRN3	30434396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.814000	0.99346	2.589000	0.87451	0.591000	0.81541	GCT		0.388	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		12	66	0	0	0	1	0	12	66				
MOB4	25843	broad.mit.edu	37	2	198400319	198400319	+	Silent	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:198400319C>G	ENST00000323303.4	+	3	444	c.189C>G	c.(187-189)ggC>ggG	p.G63G	HSPE1-MOB4_ENST00000604458.1_Silent_p.G99G|MOB4_ENST00000448447.2_Silent_p.G42G|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000409360.1_Silent_p.G31G|MOB4_ENST00000233892.4_Silent_p.G31G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	63					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										CACCTGAAGGCCAAGATGAAG	0.313																																						ENST00000323303.4																			0											c.(187-189)ggC>ggG		MOB family member 4, phocein							127.0	132.0	131.0					2																	198400319		2203	4299	6502	SO:0001819	synonymous_variant	25843							g.chr2:198400319C>G	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.189C>G	2.37:g.198400319C>G						MOB4_ENST00000233892.4_Silent_p.G31G|MOB4_ENST00000448447.2_Silent_p.G42G|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000409360.1_Silent_p.G31G|MOB4_ENST00000604458.1_Silent_p.G99G	p.G63G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2					3	444	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Silent	SNP	ENST00000323303.4	37	c.189C>G	CCDS2321.1																																																																																				0.313	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		19	206	0	0	0	1	0	19	206				
ABCA1	19	broad.mit.edu	37	9	107584853	107584853	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:107584853C>T	ENST00000374736.3	-	19	3146	c.2752G>A	c.(2752-2754)Ggc>Agc	p.G918S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	918	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTGCCAGGCCATCGACAGCC	0.557																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2752-2754)Ggc>Agc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						141.0	132.0	135.0					9																	107584853		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107584853C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2752G>A	9.37:g.107584853C>T	ENSP00000363868:p.Gly918Ser						p.G918S	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	19	3146	-			918			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2752G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544979	0.96488	.	.	ENSG00000165029	ENST00000374736	T	0.81415	-1.49	5.79	5.79	0.91817	ABC transporter-like (1);	0.046569	0.85682	D	0.000000	D	0.83709	0.5313	L	0.35854	1.095	0.80722	D	1	D	0.54207	0.965	P	0.56788	0.806	T	0.82430	-0.0461	10	0.41790	T	0.15	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	918	O95477	ABCA1_HUMAN	S	918	ENSP00000363868:G918S	ENSP00000363868:G918S	G	-	1	0	ABCA1	106624674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	GGC		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		20	101	0	0	0	1	0	20	101				
KDR	3791	broad.mit.edu	37	4	55964379	55964379	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:55964379G>A	ENST00000263923.4	-	17	2729	c.2434C>T	c.(2434-2436)Cca>Tca	p.P812S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	812					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATCCAATGGGAGTTCATCT	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2434-2436)Cca>Tca		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						120.0	108.0	112.0					4																	55964379		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964379G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2434C>T	4.37:g.55964379G>A	ENSP00000263923:p.Pro812Ser	TSP Lung(20;0.16)					p.P812S	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		17	2729	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		812					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2434C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036299	0.54896	.	.	ENSG00000128052	ENST00000263923	T	0.78481	-1.18	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87363	0.2345	10	0.44086	T	0.13	.	20.1707	0.98158	0.0:0.0:1.0:0.0	.	812	P35968	VGFR2_HUMAN	S	812	ENSP00000263923:P812S	ENSP00000263923:P812S	P	-	1	0	KDR	55659136	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	8.062000	0.89475	2.773000	0.95371	0.655000	0.94253	CCA		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			14	68	0	0	0	1	0	14	68				
PAPPA2	60676	broad.mit.edu	37	1	176525491	176525491	+	Silent	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:176525491G>T	ENST00000367662.3	+	2	1197	c.33G>T	c.(31-33)ctG>ctT	p.L11L	PAPPA2_ENST00000367661.3_Silent_p.L11L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	11					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATAAGCCTGGCGATTTTGG	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(31-33)ctG>ctT		pappalysin 2							117.0	114.0	115.0					1																	176525491		1981	4173	6154	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525491G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.33G>T	1.37:g.176525491G>T						PAPPA2_ENST00000367661.3_Silent_p.L11L	p.L11L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1197	+			11					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.33G>T	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	138	1	0	9.65963e-10	1	1.07844e-09	32	138				
GXYLT1	283464	broad.mit.edu	37	12	42491746	42491746	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:42491746T>A	ENST00000398675.3	-	6	1186	c.954A>T	c.(952-954)caA>caT	p.Q318H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.Q287H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	318					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCAATAGATCTTGATCACCCC	0.284																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(952-954)caA>caT		glucoside xylosyltransferase 1							146.0	131.0	135.0					12																	42491746		1829	4080	5909	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42491746T>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.954A>T	12.37:g.42491746T>A	ENSP00000381666:p.Gln318His					GXYLT1_ENST00000280876.6_Missense_Mutation_p.Q287H	p.Q318H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			6	1186	-			318					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.954A>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407410	0.42715	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.42131	0.98;0.98	5.83	-0.839	0.10759	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.94021	3.485	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74038	-0.3793	10	0.87932	D	0	-15.7317	12.6704	0.56864	0.0:0.5249:0.0:0.4751	.	287;318	Q4G148-2;Q4G148	.;GXLT1_HUMAN	H	318;287	ENSP00000381666:Q318H;ENSP00000280876:Q287H	ENSP00000280876:Q287H	Q	-	3	2	GXYLT1	40778013	1.000000	0.71417	0.985000	0.45067	0.105000	0.19272	1.146000	0.31589	-0.372000	0.07992	-0.250000	0.11733	CAA		0.284	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		23	143	0	0	0	1	0	23	143				
EHMT1	79813	broad.mit.edu	37	9	140652378	140652378	+	Silent	SNP	A	A	G	rs137852715		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:140652378A>G	ENST00000460843.1	+	9	1443	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	EHMT1_ENST00000334856.6_Silent_p.A441A|EHMT1_ENST00000462484.1_Silent_p.A472A|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	472					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCAGACGGCACCAGGAGACA	0.542																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1414-1416)gcA>gcG		euchromatic histone-lysine N-methyltransferase 1							160.0	140.0	147.0					9																	140652378		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140652378A>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1416A>G	9.37:g.140652378A>G						EHMT1_ENST00000462484.1_Silent_p.A472A|EHMT1_ENST00000334856.6_Silent_p.A441A|EHMT1_ENST00000371394.2_3'UTR	p.A472A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	9	1443	+	all_cancers(76;0.164)		472					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.1416A>G	CCDS7050.2																																																																																				0.542	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		63	71	0	0	0	1	0	63	71				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	T	rs200751463		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276229A>T	ENST00000445192.2	+	7	1423	c.1378A>T	c.(1378-1380)Aca>Tca	p.T460S	PRG4_ENST00000367483.4_Missense_Mutation_p.T419S|PRG4_ENST00000367486.3_Missense_Mutation_p.T417S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Tca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>T	1.37:g.186276229A>T	ENSP00000399679:p.Thr460Ser					PRG4_ENST00000367486.3_Missense_Mutation_p.T417S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367S|PRG4_ENST00000367483.4_Missense_Mutation_p.T419S	p.T460S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.910	0.537538	0.13188	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04654	3.61;3.69;3.58;3.69	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15141	0.012;0.012;0.004;0.012	B;B;B;B	0.14023	0.006;0.01;0.004;0.01	T	0.45775	-0.9238	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	417;326;419;367;460	ENSP00000356456:T417S;ENSP00000356453:T419S;ENSP00000356455:T367S;ENSP00000399679:T460S	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		18	208	0	0	0	1	0	18	208				
ITM2B	9445	broad.mit.edu	37	13	48832958	48832958	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:48832958A>G	ENST00000378565.5	+	5	793	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ITM2B_ENST00000378549.5_Missense_Mutation_p.Y91C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	197	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCTCAGTCCTATCTGATTCAT	0.368																																						ENST00000378565.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(589-591)tAt>tGt		integral membrane protein 2B							169.0	139.0	149.0					13																	48832958		2203	4300	6503	SO:0001583	missense	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48832958A>G	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.590A>G	13.37:g.48832958A>G	ENSP00000367828:p.Tyr197Cys					ITM2B_ENST00000378549.5_Missense_Mutation_p.Y91C	p.Y197C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	5	793	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	197			BRICHOS.		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	c.590A>G	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340602	0.81911	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.79554	-1.28;-1.28	5.63	5.63	0.86233	BRICHOS (2);	0.056680	0.64402	N	0.000001	D	0.90741	0.7094	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92315	0.5861	10	0.87932	D	0	-24.2692	15.0333	0.71725	1.0:0.0:0.0:0.0	.	197	Q9Y287	ITM2B_HUMAN	C	197;91	ENSP00000367828:Y197C;ENSP00000367811:Y91C	ENSP00000367811:Y91C	Y	+	2	0	ITM2B	47730959	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.873000	0.92357	2.144000	0.66660	0.528000	0.53228	TAT		0.368	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		48	82	0	0	0	1	0	48	82				
PRDM9	56979	broad.mit.edu	37	5	23521230	23521230	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:23521230A>T	ENST00000296682.3	+	6	632	c.450A>T	c.(448-450)aaA>aaT	p.K150N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	150					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGCTCAGAAACCAGTGTCCC	0.443										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(448-450)aaA>aaT		PR domain containing 9							114.0	111.0	112.0					5																	23521230		1868	4113	5981	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23521230A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.450A>T	5.37:g.23521230A>T	ENSP00000296682:p.Lys150Asn	HNSCC(3;0.000094)					p.K150N	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			6	632	+			150					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.450A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401855	0.42613	.	.	ENSG00000164256	ENST00000296682	T	0.09911	2.93	3.31	0.892	0.19230	.	.	.	.	.	T	0.26448	0.0646	M	0.73962	2.25	0.09310	N	1	D	0.71674	0.998	D	0.73708	0.981	T	0.06954	-1.0798	9	0.87932	D	0	-8.0015	4.8913	0.13728	0.7273:0.0:0.2727:0.0	.	150	Q9NQV7	PRDM9_HUMAN	N	150	ENSP00000296682:K150N	ENSP00000296682:K150N	K	+	3	2	PRDM9	23556987	0.179000	0.23135	0.041000	0.18516	0.015000	0.08874	-0.124000	0.10595	0.190000	0.20209	0.433000	0.28618	AAA		0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		20	62	0	0	0	1	0	20	62				
C9	735	broad.mit.edu	37	5	39311245	39311245	+	Missense_Mutation	SNP	G	G	A	rs149784324		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:39311245G>A	ENST00000263408.4	-	7	1200	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	369	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATACCTTTCCGCTTCATGGAA	0.368																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1105-1107)Cgg>Tgg		complement component 9		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	103.0	102.0		1105	-3.2	0.0	5	dbSNP_134	102	0,8598		0,0,4299	no	missense	C9	NM_001737.3	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	369/560	39311245	1,13003	2203	4299	6502	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311245G>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1105C>T	5.37:g.39311245G>A	ENSP00000263408:p.Arg369Trp						p.R369W	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1200	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	369			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1105C>T	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880635	0.51801	2.27E-4	0.0	ENSG00000113600	ENST00000263408	D	0.84442	-1.85	5.63	-3.15	0.05233	Membrane attack complex component/perforin (MACPF) domain (3);	1.321610	0.04660	N	0.408757	D	0.85509	0.5713	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.76881	-0.2795	10	0.72032	D	0.01	-3.9239	10.0859	0.42417	0.0:0.1305:0.5978:0.2717	.	369	P02748	CO9_HUMAN	W	369	ENSP00000263408:R369W	ENSP00000263408:R369W	R	-	1	2	C9	39347002	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.557000	0.00924	-0.469000	0.06911	-0.344000	0.07964	CGG		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			42	71	0	0	0	1	0	42	71				
TRIM56	81844	broad.mit.edu	37	7	100732424	100732424	+	Missense_Mutation	SNP	G	G	A	rs200430251	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:100732424G>A	ENST00000306085.6	+	3	2128	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	611					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCGGGCCACGTGGAGGTGTA	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1831-1833)Gtg>Atg		tripartite motif containing 56							32.0	38.0	36.0					7																	100732424		2023	4167	6190	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732424G>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1831G>A	7.37:g.100732424G>A	ENSP00000305161:p.Val611Met						p.V611M	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2128	+	Lung NSC(181;0.136)|all_lung(186;0.182)		611					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1831G>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435750	0.62955	.	.	ENSG00000169871	ENST00000306085	T	0.38722	1.12	4.05	4.05	0.47172	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.42268	0.1195	N	0.08118	0	0.35989	D	0.836584	D	0.89917	1.0	D	0.76575	0.988	T	0.54316	-0.8312	9	0.54805	T	0.06	.	12.0713	0.53618	0.0:0.0:1.0:0.0	.	611	Q9BRZ2	TRI56_HUMAN	M	611	ENSP00000305161:V611M	ENSP00000305161:V611M	V	+	1	0	TRIM56	100519144	0.998000	0.40836	0.994000	0.49952	0.969000	0.65631	3.079000	0.50104	2.566000	0.86566	0.586000	0.80456	GTG		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		26	91	0	0	0	1	0	26	91				
WDR44	54521	broad.mit.edu	37	X	117582899	117582899	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:117582899C>T	ENST00000254029.3	+	20	3086	c.2691C>T	c.(2689-2691)gaC>gaT	p.D897D	WDR44_ENST00000371825.3_Silent_p.D889D|WDR44_ENST00000371822.5_Silent_p.D808D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	897						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTCTGCTGACTTCACTGGAG	0.274																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(2689-2691)gaC>gaT		WD repeat domain 44							37.0	38.0	37.0					X																	117582899		2195	4286	6481	SO:0001819	synonymous_variant	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117582899C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2691C>T	X.37:g.117582899C>T						WDR44_ENST00000371825.3_Silent_p.D889D|WDR44_ENST00000371822.5_Silent_p.D808D	p.D897D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			20	3086	+			897					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Silent	SNP	ENST00000254029.3	37	c.2691C>T	CCDS14572.1																																																																																				0.274	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		27	19	0	0	0	1	0	27	19				
NAALADL1	10004	broad.mit.edu	37	11	64812090	64812090	+	IGR	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:64812090G>A	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000531072.1_Missense_Mutation_p.S323N|SAC3D1_ENST00000398846.1_Missense_Mutation_p.S323N|SAC3D1_ENST00000530213.1_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCGCCTGCCAGTACGTGCAAG	0.627																																						ENST00000398846.1																			0				endometrium(2)|lung(1)	3						c.(967-969)aGt>aAt		SAC3 domain containing 1							64.0	69.0	67.0					11																	64812090		2112	4216	6328	SO:0001628	intergenic_variant	29901							g.chr11:64812090G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64812090G>A						SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.S323N	p.S323N	NM_013299.3	NP_037431.3					2	1357	+								C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.968G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	4.152	0.026700	0.08054	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.31769	1.48;1.48	4.84	3.86	0.44501	.	0.785568	0.10797	N	0.633043	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.12268	-1.0554	10	0.17832	T	0.49	-9.3526	9.3988	0.38420	0.0:0.0:0.7719:0.2281	.	369	A6NKF1	SAC31_HUMAN	N	323;323;368	ENSP00000436649:S323N;ENSP00000381824:S323N	ENSP00000301885:S368N	S	+	2	0	SAC3D1	64568666	0.917000	0.31117	0.025000	0.17156	0.003000	0.03518	4.438000	0.59961	2.503000	0.84419	0.650000	0.86243	AGT		0.627	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		35	46	0	0	0	1	0	35	46				
MYO5A	4644	broad.mit.edu	37	15	52689527	52689527	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:52689527G>T	ENST00000399231.3	-	10	1433	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	MYO5A_ENST00000553916.1_Missense_Mutation_p.T397K|MYO5A_ENST00000399233.2_Missense_Mutation_p.T397K|MYO5A_ENST00000358212.6_Missense_Mutation_p.T397K|MYO5A_ENST00000356338.6_Missense_Mutation_p.T397K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	397	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCGGGCATTTGTGGCCTGCAG	0.502																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1189-1191)aCa>aAa		myosin VA (heavy chain 12, myoxin)							106.0	100.0	102.0					15																	52689527		2043	4196	6239	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52689527G>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1190C>A	15.37:g.52689527G>T	ENSP00000382177:p.Thr397Lys					MYO5A_ENST00000358212.6_Missense_Mutation_p.T397K|MYO5A_ENST00000356338.6_Missense_Mutation_p.T397K|MYO5A_ENST00000399233.2_Missense_Mutation_p.T397K|MYO5A_ENST00000553916.1_Missense_Mutation_p.T397K	p.T397K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	10	1433	-			397			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1190C>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920354	0.33908	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.62	4.7	0.59300	Myosin head, motor domain (2);	0.190344	0.56097	D	0.000034	T	0.74703	0.3751	L	0.31476	0.935	0.39948	D	0.974498	B;B	0.31040	0.075;0.305	B;B	0.27887	0.063;0.084	T	0.68977	-0.5267	10	0.07482	T	0.82	.	8.61	0.33797	0.1716:0.0:0.8284:0.0	.	397;397	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	397;397;397;397;27;397	ENSP00000382177:T397K;ENSP00000382179:T397K;ENSP00000348693:T397K;ENSP00000350945:T397K;ENSP00000451109:T397K	ENSP00000348693:T397K	T	-	2	0	MYO5A	50476819	0.908000	0.30866	0.986000	0.45419	0.498000	0.33706	1.564000	0.36375	2.634000	0.89283	0.591000	0.81541	ACA		0.502	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		16	63	1	0	4.7546e-09	1	5.23649e-09	16	63				
ALK	238	broad.mit.edu	37	2	29606678	29606678	+	Missense_Mutation	SNP	C	C	A	rs188859061		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:29606678C>A	ENST00000389048.3	-	5	2108	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R401Q(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGGGCCACTCGAAATGGGTT	0.488			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	1	Substitution - Missense(1)	p.R401Q(1)	large_intestine(1)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1201-1203)cGa>cTa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						121.0	113.0	116.0					2																	29606678		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29606678C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1202G>T	2.37:g.29606678C>A	ENSP00000373700:p.Arg401Leu					ALK_ENST00000431873.1_Intron	p.R401L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			5	2108	-	Acute lymphoblastic leukemia(172;0.155)		401			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1202G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337503	0.81911	.	.	ENSG00000171094	ENST00000389048	T	0.02280	4.36	6.02	6.02	0.97574	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.29980	N	0.010702	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.59288	0.855	T	0.70185	-0.4941	9	.	.	.	.	17.6932	0.88275	0.0:1.0:0.0:0.0	.	401	Q9UM73	ALK_HUMAN	L	401	ENSP00000373700:R401L	.	R	-	2	0	ALK	29460182	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	3.192000	0.50989	2.857000	0.98124	0.650000	0.86243	CGA		0.488	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		16	78	1	0	1.37285e-15	1	1.59839e-15	16	78				
EPHA5	2044	broad.mit.edu	37	4	66356365	66356365	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:66356365T>G	ENST00000273854.3	-	5	1732	c.1132A>C	c.(1132-1134)Att>Ctt	p.I378L	EPHA5_ENST00000354839.4_Missense_Mutation_p.I378L|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.I378L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAGGCGGAATCCATTCCAGA	0.448										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1132-1134)Att>Ctt		EPH receptor A5							83.0	69.0	74.0					4																	66356365		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356365T>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1132A>C	4.37:g.66356365T>G	ENSP00000273854:p.Ile378Leu	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.I378L|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.I378L	p.I378L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1732	-			378			Fibronectin type-III 1.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1132A>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.797130	0.50208	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.56103	0.48;0.48;0.48	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	T	0.27933	0.0688	N	0.01168	-0.975	0.42783	D	0.993873	B;B;B;B	0.17268	0.006;0.0;0.005;0.021	B;B;B;B	0.15870	0.014;0.006;0.008;0.011	T	0.16748	-1.0392	10	0.41790	T	0.15	.	16.2526	0.82494	0.0:0.0:0.0:1.0	.	378;378;378;378	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	378	ENSP00000273854:I378L;ENSP00000346899:I378L;ENSP00000427638:I378L	ENSP00000273854:I378L	I	-	1	0	EPHA5	66038960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.101000	0.64566	2.241000	0.73720	0.482000	0.46254	ATT		0.448	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		11	39	0	0	0	1	0	11	39				
TUBB8P7	197331	broad.mit.edu	37	16	90162304	90162304	+	RNA	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90162304A>G	ENST00000564451.1	+	0	1657				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTGGCTCCCCAACAACGTAAA	0.502																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162304A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162304A>G						TUBB8P7_ENST00000564451.1_RNA								0	1040	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.502	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	305	0	0	0	1	0	5	305				
JAM2	58494	broad.mit.edu	37	21	27062254	27062254	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:27062254C>T	ENST00000480456.1	+	3	760	c.210C>T	c.(208-210)gtC>gtT	p.V70V	JAM2_ENST00000312957.5_Silent_p.V70V|JAM2_ENST00000400532.1_Silent_p.V70V|JAM2_ENST00000425221.2_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	70	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCGGAGTGTCTCCTTTGTCT	0.428																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(208-210)gtC>gtT		junctional adhesion molecule 2							130.0	131.0	131.0					21																	27062254		1864	4088	5952	SO:0001819	synonymous_variant	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27062254C>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.210C>T	21.37:g.27062254C>T						JAM2_ENST00000312957.5_Silent_p.V70V|JAM2_ENST00000400532.1_Silent_p.V70V|JAM2_ENST00000425221.2_Intron	p.V70V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			3	760	+			70			Ig-like V-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	c.210C>T	CCDS42911.1																																																																																				0.428	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			28	113	0	0	0	1	0	28	113				
TRPC6	7225	broad.mit.edu	37	11	101325759	101325759	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325759C>G	ENST00000344327.3	-	11	2982	c.2558G>C	c.(2557-2559)aGa>aCa	p.R853T	TRPC6_ENST00000348423.4_Missense_Mutation_p.R737T|TRPC6_ENST00000532133.1_Missense_Mutation_p.R775T|TRPC6_ENST00000360497.4_Missense_Mutation_p.R798T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	853					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGATATTGTCTTGGAGGATT	0.299																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2557-2559)aGa>aCa		transient receptor potential cation channel, subfamily C, member 6							111.0	114.0	113.0					11																	101325759		2203	4293	6496	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101325759C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2558G>C	11.37:g.101325759C>G	ENSP00000340913:p.Arg853Thr					TRPC6_ENST00000348423.4_Missense_Mutation_p.R737T|TRPC6_ENST00000532133.1_Missense_Mutation_p.R775T|TRPC6_ENST00000360497.4_Missense_Mutation_p.R798T	p.R853T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	11	2982	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	853					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2558G>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316569	0.05422	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.76	5.76	0.90799	.	0.319538	0.32624	N	0.005854	T	0.58566	0.2131	N	0.01128	-1	0.29563	N	0.85049	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.46456	-0.9190	10	0.11485	T	0.65	-1.5107	15.5166	0.75830	0.0:0.8624:0.1376:0.0	.	798;737;853	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	853;775;737;798	ENSP00000340913:R853T;ENSP00000435574:R775T;ENSP00000343672:R737T;ENSP00000353687:R798T	ENSP00000340913:R853T	R	-	2	0	TRPC6	100830969	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.099000	0.41767	2.747000	0.94245	0.644000	0.83932	AGA		0.299	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		52	336	0	0	0	1	0	52	336				
PLXNA2	5362	broad.mit.edu	37	1	208218412	208218412	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218412C>A	ENST00000367033.3	-	19	4396	c.3639G>T	c.(3637-3639)atG>atT	p.M1213I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1213	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCACTCACCATGACCTTGT	0.572																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e19+1		plexin A2							110.0	91.0	98.0					1																	208218412		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218412C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3639+1G>T	1.37:g.208218412C>A							p.M1213_splice	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4396	-			1213			IPT/TIG 4.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Splice_Site	SNP	ENST00000367033.3	37	c.3639_splice	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542048	0.45280	.	.	ENSG00000076356	ENST00000367033	T	0.75477	-0.94	5.22	5.22	0.72569	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.175459	0.64402	D	0.000012	T	0.63792	0.2541	L	0.39020	1.185	0.58432	D	0.999999	B	0.18741	0.03	B	0.20577	0.03	T	0.58295	-0.7661	9	.	.	.	.	12.1857	0.54236	0.0:0.9221:0.0:0.0779	.	1213	O75051	PLXA2_HUMAN	I	1213	ENSP00000356000:M1213I	.	M	-	3	0	PLXNA2	206285035	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.826000	0.69293	2.434000	0.82447	0.563000	0.77884	ATG		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation	13	65	1	0	0.000151284	1	0.000156072	13	65				
MED31	51003	broad.mit.edu	37	17	6547860	6547860	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:6547860T>C	ENST00000225728.3	-	4	428	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y34C|TXNDC17_ENST00000250101.5_3'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	108					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						CTTCCGGGAATAGTGCTGCCA	0.453																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(322-324)tAt>tGt		mediator complex subunit 31							133.0	125.0	128.0					17																	6547860		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6547860T>C	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.323A>G	17.37:g.6547860T>C	ENSP00000225728:p.Tyr108Cys					MED31_ENST00000575197.1_3'UTR|TXNDC17_ENST00000250101.5_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y34C	p.Y108C	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			4	428	-			108					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.323A>G	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744246	0.89663	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87570	0.2477	9	0.72032	D	0.01	-18.1544	14.4783	0.67562	0.0:0.0:0.0:1.0	.	108	Q9Y3C7	MED31_HUMAN	C	108	.	ENSP00000225728:Y108C	Y	-	2	0	MED31	6488584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.229000	0.78088	2.367000	0.80283	0.528000	0.53228	TAT		0.453	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		29	168	0	0	0	1	0	29	168				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	200	0	0	0	1	0	7	200				
TUBB8P7	197331	broad.mit.edu	37	16	90162298	90162298	+	RNA	SNP	C	C	T	rs566020585		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90162298C>T	ENST00000564451.1	+	0	1651				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGCTGACTGGCTCCCCAACAA	0.502																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162298C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162298C>T						TUBB8P7_ENST00000564451.1_RNA								0	1034	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.502	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	299	0	0	0	1	0	6	299				
DHRS4L2	317749	broad.mit.edu	37	14	24470637	24470637	+	Silent	SNP	C	C	A	rs564938084	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:24470637C>A	ENST00000335125.6	+	6	702	c.576C>A	c.(574-576)ctC>ctA	p.L192L	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Silent_p.L117L|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000558753.1_Silent_p.L117L|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.L190L|DHRS4L2_ENST00000397071.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	190						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGCTGGGCCTCAACAATACCC	0.488																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(574-576)ctC>ctA		dehydrogenase/reductase (SDR family) member 4 like 2							131.0	151.0	144.0					14																	24470637		2141	4300	6441	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24470637C>A		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.576C>A	14.37:g.24470637C>A						DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.L190L|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000537912.1_Silent_p.L117L|DHRS4L2_ENST00000558753.1_Silent_p.L117L|DHRS4L2_ENST00000545240.1_Intron	p.L192L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	702	+			130					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.576C>A	CCDS9606.2																																																																																				0.488	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			61	158	1	0	7.82978e-24	1	9.18169e-24	61	158				
TTN	7273	broad.mit.edu	37	2	179432224	179432224	+	Missense_Mutation	SNP	C	C	A	rs11685237		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:179432224C>A	ENST00000591111.1	-	276	73936	c.73712G>T	c.(73711-73713)aGa>aTa	p.R24571I	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17339I|TTN_ENST00000589042.1_Missense_Mutation_p.R26212I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17272I|TTN_ENST00000460472.2_Missense_Mutation_p.R17147I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23644I|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24571	Ig-like 122.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTCAAGTCTGAATGTTTC	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78634-78636)aGa>aTa		titin							97.0	90.0	92.0					2																	179432224		1868	4108	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432224C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73712G>T	2.37:g.179432224C>A	ENSP00000465570:p.Arg24571Ile					TTN_ENST00000460472.2_Missense_Mutation_p.R17147I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17272I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17339I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24571I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23644I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.R26212I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	78859	-			24571			Fibronectin type-III 90.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78635G>T		.	.	.	.	.	.	.	.	.	.	C	8.440	0.850695	0.17034	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.65	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38214	0.1032	L	0.51422	1.61	0.42971	D	0.994436	B;B;B;B	0.33826	0.427;0.427;0.427;0.171	B;B;B;B	0.35655	0.161;0.161;0.161;0.207	T	0.26503	-1.0101	9	0.87932	D	0	.	9.9935	0.41885	0.0:0.725:0.0:0.275	.	17147;17272;17339;24571	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23644;17147;17339;17272;17145	ENSP00000343764:R23644I;ENSP00000434586:R17147I;ENSP00000340554:R17339I;ENSP00000352154:R17272I	ENSP00000340554:R17339I	R	-	2	0	TTN	179140470	0.969000	0.33509	1.000000	0.80357	0.987000	0.75469	0.450000	0.21762	0.595000	0.29777	0.561000	0.74099	AGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	46	1	0	1.61004e-24	1	1.90171e-24	51	46				
ZFYVE9	9372	broad.mit.edu	37	1	52744251	52744251	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:52744251A>T	ENST00000371591.1	+	8	2965	c.2834A>T	c.(2833-2835)aAt>aTt	p.N945I	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.N945I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N886I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	945					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTTTTAAATGCAAATTTG	0.328																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(2833-2835)aAt>aTt		zinc finger, FYVE domain containing 9							103.0	99.0	100.0					1																	52744251		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52744251A>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2834A>T	1.37:g.52744251A>T	ENSP00000360647:p.Asn945Ile					ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N945I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N886I	p.N945I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			9	3006	+			945					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2834A>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283183	0.80803	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.44482	1.0;0.92;0.92	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.967;0.999	T	0.69537	-0.5119	10	0.87932	D	0	.	14.9038	0.70703	1.0:0.0:0.0:0.0	.	886;945	O95405-2;O95405	.;ZFYV9_HUMAN	I	886;945;945	ENSP00000349737:N886I;ENSP00000287727:N945I;ENSP00000360647:N945I	ENSP00000287727:N945I	N	+	2	0	ZFYVE9	52516839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.592000	0.90828	2.113000	0.64589	0.482000	0.46254	AAT		0.328	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		12	74	0	0	0	1	0	12	74				
PCNX	22990	broad.mit.edu	37	14	71568843	71568843	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:71568843C>T	ENST00000304743.2	+	31	6172	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F	PCNX_ENST00000238570.5_Missense_Mutation_p.S1837F|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.S1798F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1909						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AACTCTCCCTCCTTGCTTGCT	0.478																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(5725-5727)tCc>tTc		pecanex homolog (Drosophila)							116.0	111.0	113.0					14																	71568843		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71568843C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5726C>T	14.37:g.71568843C>T	ENSP00000304192:p.Ser1909Phe					PCNX_ENST00000238570.5_Missense_Mutation_p.S1837F|PCNX_ENST00000439984.3_Missense_Mutation_p.S1798F|PCNX_ENST00000556272.1_3'UTR	p.S1909F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	31	6172	+			1909					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5726C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.447718|4.447718	0.84101|0.84101	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	5.5|5.5	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61813|0.61813	0.2377|0.2377	L|L	0.61387|0.61387	1.9|1.9	0.35090|0.35090	D|D	0.764277|0.764277	.|D;D;D	.|0.89917	.|0.997;0.999;1.0	.|D;D;D	.|0.91635	.|0.944;0.986;0.999	T|T	0.72357|0.72357	-0.4318|-0.4318	5|10	.|0.72032	.|D	.|0.01	.|.	15.7184|15.7184	0.77688|0.77688	0.1371:0.8629:0.0:0.0|0.1371:0.8629:0.0:0.0	.|.	.|1837;1798;1909	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	S|F	896|1909;1837;1798	.|ENSP00000304192:S1909F;ENSP00000238570:S1837F;ENSP00000396617:S1798F	.|ENSP00000238570:S1837F	P|S	+|+	1|2	0|0	PCNX|PCNX	70638596|70638596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.445000|7.445000	0.80570|0.80570	2.592000|2.592000	0.87571|0.87571	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		46	129	0	0	0	1	0	46	129				
ANGPT4	51378	broad.mit.edu	37	20	868980	868980	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:868980G>C	ENST00000381922.3	-	3	670	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q190E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	190					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCCTGAAGCTGCTGGAGCTTC	0.582																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(568-570)Cag>Gag		angiopoietin 4							83.0	72.0	76.0					20																	868980		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:868980G>C	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.568C>G	20.37:g.868980G>C	ENSP00000371347:p.Gln190Glu					ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q190E	p.Q190E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			3	670	-			190					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.568C>G	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	11.53	1.666168	0.29604	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13196	2.61;2.61	4.44	2.29	0.28610	.	1.174380	0.06318	N	0.703947	T	0.10465	0.0256	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.34015	0.435;0.255	B;B	0.24974	0.057;0.057	T	0.29336	-1.0015	10	0.40728	T	0.16	.	9.6437	0.39855	0.0:0.0:0.4846:0.5154	.	190;190	B4E3J9;Q9Y264	.;ANGP4_HUMAN	E	190	ENSP00000371347:Q190E;ENSP00000439605:Q190E	ENSP00000371347:Q190E	Q	-	1	0	ANGPT4	816980	0.006000	0.16342	0.902000	0.35471	0.950000	0.60333	1.026000	0.30103	1.078000	0.41014	0.298000	0.19748	CAG		0.582	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		6	75	0	0	0	1	0	6	75				
FGD2	221472	broad.mit.edu	37	6	36982441	36982441	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:36982441C>A	ENST00000274963.8	+	7	1014	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	281	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACATGATCTTCTCAGCTGCCC	0.597																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(841-843)ttC>ttA		FYVE, RhoGEF and PH domain containing 2							70.0	69.0	70.0					6																	36982441		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982441C>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.843C>A	6.37:g.36982441C>A	ENSP00000274963:p.Phe281Leu						p.F281L	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			7	1014	+			281			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.843C>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509769	0.64522	.	.	ENSG00000146192	ENST00000274963	T	0.62364	0.03	4.55	4.55	0.56014	Dbl homology (DH) domain (5);	0.000000	0.49305	D	0.000160	T	0.28034	0.0691	N	0.01464	-0.85	0.33503	D	0.590155	P	0.48162	0.906	P	0.52343	0.696	T	0.37526	-0.9702	10	0.48119	T	0.1	-4.2752	7.2118	0.25937	0.1715:0.74:0.0:0.0886	.	281	Q7Z6J4	FGD2_HUMAN	L	281	ENSP00000274963:F281L	ENSP00000274963:F281L	F	+	3	2	FGD2	37090419	0.970000	0.33590	1.000000	0.80357	0.970000	0.65996	0.416000	0.21198	2.346000	0.79739	0.561000	0.74099	TTC		0.597	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		23	54	1	0	1.66031e-10	1	1.86641e-10	23	54				
FAT3	120114	broad.mit.edu	37	11	92600283	92600283	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:92600283C>T	ENST00000298047.6	+	21	12052	c.12035C>T	c.(12034-12036)aCg>aTg	p.T4012M	FAT3_ENST00000533797.1_Missense_Mutation_p.T347M|FAT3_ENST00000525166.1_Missense_Mutation_p.T3862M|FAT3_ENST00000409404.2_Missense_Mutation_p.T4012M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4012	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCCTGACGGAGCTGAAG	0.657										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12034-12036)aCg>aTg		FAT atypical cadherin 3							11.0	13.0	12.0					11																	92600283		2040	4178	6218	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600283C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12035C>T	11.37:g.92600283C>T	ENSP00000298047:p.Thr4012Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.T4012M|FAT3_ENST00000533797.1_Missense_Mutation_p.T347M|FAT3_ENST00000525166.1_Missense_Mutation_p.T3862M	p.T4012M			Q8TDW7	FAT3_HUMAN			21	12052	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4012			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12035C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.066044	0.93898	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86297	-0.94;-0.94;-0.94;-2.1	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.91136	0.7209	L	0.43152	1.355	0.80722	D	1	D;P	0.89917	1.0;0.714	D;B	0.70016	0.967;0.195	D	0.88739	0.3242	9	0.33141	T	0.24	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	4012;4012	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4012;4012;3862;347	ENSP00000298047:T4012M;ENSP00000387040:T4012M;ENSP00000432586:T3862M;ENSP00000436399:T347M	ENSP00000298047:T4012M	T	+	2	0	FAT3	92239931	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	5.715000	0.68430	2.826000	0.97356	0.561000	0.74099	ACG		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	26	0	0	0	1	0	4	26				
NSUN6	221078	broad.mit.edu	37	10	18885219	18885219	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:18885219G>C	ENST00000377304.4	-	7	1113	c.695C>G	c.(694-696)cCt>cGt	p.P232R		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	232							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCAGGTTGAGGATTTAGTAC	0.383																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(694-696)cCt>cGt		NOP2/Sun domain family, member 6							194.0	175.0	181.0					10																	18885219		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18885219G>C	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.695C>G	10.37:g.18885219G>C	ENSP00000366519:p.Pro232Arg						p.P232R	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			7	1113	-			232					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.695C>G	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060049	0.76074	.	.	ENSG00000241058	ENST00000377304	T	0.31510	1.49	4.51	4.51	0.55191	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72877	-0.4159	10	0.87932	D	0	.	16.8316	0.85946	0.0:0.0:1.0:0.0	.	232	Q8TEA1	NSUN6_HUMAN	R	232	ENSP00000366519:P232R	ENSP00000366519:P232R	P	-	2	0	NSUN6	18925225	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.600000	0.90860	2.019000	0.59389	0.655000	0.94253	CCT		0.383	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		33	66	0	0	0	1	0	33	66				
ARL1	400	broad.mit.edu	37	12	101790181	101790181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:101790181C>A	ENST00000261636.8	-	5	685	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	ARL1_ENST00000551688.1_Nonsense_Mutation_p.E42*|ARL1_ENST00000551828.1_Nonsense_Mutation_p.E154*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.E171*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.E125*|ARL1_ENST00000536227.1_Nonsense_Mutation_p.E154*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	171					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ACTTGCCATTCCATTGCCTCA	0.473																																						ENST00000261636.8																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(511-513)Gaa>Taa		ADP-ribosylation factor-like 1							183.0	183.0	183.0					12																	101790181		2034	4192	6226	SO:0001587	stop_gained	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101790181C>A	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.511G>T	12.37:g.101790181C>A	ENSP00000261636:p.Glu171*					ARL1_ENST00000551688.1_Nonsense_Mutation_p.E42*|ARL1_ENST00000551828.1_Nonsense_Mutation_p.E154*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.E171*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.E125*|ARL1_ENST00000536227.1_Nonsense_Mutation_p.E154*	p.E171*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	5	685	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	171					B4DWW1|P80417|Q53XB1	Nonsense_Mutation	SNP	ENST00000261636.8	37	c.511G>T	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369738	0.95900	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551688;ENST00000551828;ENST00000551671	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	171;125;154;42;154;171	.	ENSP00000261636:E171X	E	-	1	0	ARL1	100314312	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GAA		0.473	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		33	158	1	0	1.45844e-13	1	1.68599e-13	33	158				
KCND2	3751	broad.mit.edu	37	7	119914694	119914694	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:119914694C>T	ENST00000331113.4	+	1	973	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	3	Interaction with KCNIP2.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATCATGGCGGCGGGGGTGGCA	0.607																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(7-9)gCg>gTg		potassium voltage-gated channel, Shal-related subfamily, member 2							82.0	94.0	90.0					7																	119914694		2159	4288	6447	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914694C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.8C>T	7.37:g.119914694C>T	ENSP00000333496:p.Ala3Val						p.A3V	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	973	+	all_neural(327;0.117)		3			Interaction with KCNIP2.		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.8C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783278	0.90282	.	.	ENSG00000184408	ENST00000331113	D	0.97553	-4.43	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.75264	2.295	0.80722	D	1	D	0.67145	0.996	D	0.62955	0.909	D	0.98098	1.0413	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	3	Q9NZV8	KCND2_HUMAN	V	3	ENSP00000333496:A3V	.	A	+	2	0	KCND2	119701930	1.000000	0.71417	0.929000	0.37066	0.693000	0.40251	6.059000	0.71133	2.603000	0.88011	0.655000	0.94253	GCG		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		73	220	0	0	0	1	0	73	220				
RCBTB2	1102	broad.mit.edu	37	13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T	rs560160674		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:49084844C>T	ENST00000344532.3	-	10	1270	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A288T|RCBTB2_ENST00000544904.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	283					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A283T(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17160	0.0		0.001	False		,,,				2504	0.0					ENST00000344532.3																			1	Substitution - Missense(1)	p.A283T(1)	lung(1)	breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(847-849)Gcc>Acc		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							104.0	98.0	100.0					13																	49084844		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49084844C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.847G>A	13.37:g.49084844C>T	ENSP00000345144:p.Ala283Thr					RCBTB2_ENST00000430805.2_Missense_Mutation_p.A288T|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000544492.1_Intron	p.A283T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	10	1270	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	283					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.847G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676856	0.88445	.	.	ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805	D;D	0.85171	-1.95;-1.95	5.81	4.07	0.47477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.044963	0.85682	N	0.000000	D	0.89312	0.6679	M	0.66560	2.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.956	D	0.86031	0.1513	10	0.22706	T	0.39	.	10.8761	0.46913	0.1312:0.8016:0.0:0.0672	.	288;283	B4DWG0;O95199	.;RCBT2_HUMAN	T	283;288;288	ENSP00000345144:A283T;ENSP00000389910:A288T	ENSP00000345144:A283T	A	-	1	0	RCBTB2	47982845	1.000000	0.71417	0.739000	0.30968	0.988000	0.76386	4.688000	0.61715	0.786000	0.33708	0.655000	0.94253	GCC		0.473	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		4	121	0	0	0	1	0	4	121				
TBC1D31	93594	broad.mit.edu	37	8	124096419	124096419	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:124096419A>T	ENST00000287380.1	+	4	448	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	TBC1D31_ENST00000327098.5_Missense_Mutation_p.S120C|TBC1D31_ENST00000378080.2_Missense_Mutation_p.S15C|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S15C|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S120C|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S15C	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	120						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GGAGCTAGTTAGCTGGATGAG	0.383																																						ENST00000287380.1																			0											c.(358-360)Agc>Tgc		TBC1 domain family, member 31							178.0	164.0	168.0					8																	124096419		2203	4300	6503	SO:0001583	missense	93594							g.chr8:124096419A>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.358A>T	8.37:g.124096419A>T	ENSP00000287380:p.Ser120Cys					TBC1D31_ENST00000378080.2_Missense_Mutation_p.S15C|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S15C|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S120C|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S120C|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S15C	p.S120C	NM_145647.3	NP_663622.2					4	448	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.358A>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912866	0.72983	.	.	ENSG00000156787	ENST00000520368;ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000522276	T;T;T;T;T;T;T;T	0.61158	0.13;0.13;1.56;1.56;0.13;0.13;0.13;0.13	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	L	0.55990	1.75	0.80722	D	1	D;P;B	0.53462	0.96;0.93;0.29	P;P;B	0.56343	0.796;0.723;0.139	T	0.70392	-0.4884	10	0.62326	D	0.03	-18.9012	15.8497	0.78921	1.0:0.0:0.0:0.0	.	120;120;120	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	C	15;120;120;120;15;15;15;110	ENSP00000428486:S15C;ENSP00000287380:S120C;ENSP00000308358:S120C;ENSP00000312701:S120C;ENSP00000429334:S15C;ENSP00000430628:S15C;ENSP00000367320:S15C;ENSP00000428891:S110C	ENSP00000287380:S120C	S	+	1	0	WDR67	124165600	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	8.664000	0.91139	2.142000	0.66516	0.383000	0.25322	AGC		0.383	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		32	205	0	0	0	1	0	32	205				
DNAH9	1770	broad.mit.edu	37	17	11687618	11687618	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:11687618G>A	ENST00000262442.4	+	41	7891	c.7823G>A	c.(7822-7824)cGt>cAt	p.R2608H	DNAH9_ENST00000454412.2_Splice_Site_p.R2608H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2608	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGTACAGCGTCACTTCAGC	0.488																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e41-1		dynein, axonemal, heavy chain 9							217.0	211.0	213.0					17																	11687618		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687618G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7822-1G>A	17.37:g.11687618G>A						DNAH9_ENST00000454412.2_Splice_Site_p.R2608_splice	p.R2608_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7891	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2608			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.7821_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165907	0.78339	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90793	0.4688	10	0.87932	D	0	.	19.7694	0.96356	0.0:0.0:1.0:0.0	.	2608	Q9NYC9	DYH9_HUMAN	H	2608;2608;1190	ENSP00000262442:R2608H;ENSP00000414874:R2608H	ENSP00000262442:R2608H	R	+	2	0	DNAH9	11628343	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	9.740000	0.98839	2.686000	0.91538	0.643000	0.83706	CGT		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	49	240	0	0	0	1	0	49	240				
MOV10	4343	broad.mit.edu	37	1	113242564	113242564	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:113242564G>A	ENST00000413052.2	+	19	3148	c.2758G>A	c.(2758-2760)Ggg>Agg	p.G920R	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000357443.2_Missense_Mutation_p.G920R|MOV10_ENST00000369645.1_Missense_Mutation_p.G920R|MOV10_ENST00000369644.1_Missense_Mutation_p.G864R	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	920					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCATCGTGGGGAACCCCCT	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2590-2592)Ggg>Agg		Mov10, Moloney leukemia virus 10, homolog (mouse)							117.0	118.0	118.0					1																	113242564		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242564G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2758G>A	1.37:g.113242564G>A	ENSP00000399797:p.Gly920Arg					MOV10_ENST00000369645.1_Missense_Mutation_p.G920R|MOV10_ENST00000357443.2_Missense_Mutation_p.G920R|MOV10_ENST00000413052.2_Missense_Mutation_p.G920R|MOV10_ENST00000468624.1_3'UTR	p.G864R			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	20	3619	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	920					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2590G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883235	0.91740	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99813	1.1042	10	0.87932	D	0	-20.6549	18.1794	0.89772	0.0:0.0:1.0:0.0	.	920	Q9HCE1	MOV10_HUMAN	R	920;920;864;920;858	ENSP00000399797:G920R;ENSP00000358659:G920R;ENSP00000358658:G864R;ENSP00000350028:G920R	ENSP00000350028:G920R	G	+	1	0	MOV10	113044087	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	9.694000	0.98686	2.453000	0.82957	0.467000	0.42956	GGG		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		25	132	0	0	0	1	0	25	132				
LAMA1	284217	broad.mit.edu	37	18	6977756	6977756	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:6977756C>G	ENST00000389658.3	-	44	6408	c.6315G>C	c.(6313-6315)ttG>ttC	p.L2105F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2105	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCTGGCTGATCAACAGTTTAA	0.483																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6313-6315)ttG>ttC		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	57.0	58.0					18																	6977756		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6977756C>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6315G>C	18.37:g.6977756C>G	ENSP00000374309:p.Leu2105Phe						p.L2105F	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			44	6408	-		Colorectal(10;0.172)	2105			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6315G>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123740	0.56613	.	.	ENSG00000101680	ENST00000389658	T	0.60299	0.2	5.13	-1.7	0.08159	Laminin II (1);	0.000000	0.56097	D	0.000028	T	0.72526	0.3471	M	0.81497	2.545	0.38553	D	0.949512	D	0.89917	1.0	D	0.97110	1.0	T	0.74386	-0.3682	10	0.72032	D	0.01	.	12.3507	0.55146	0.0776:0.3526:0.5113:0.0585	.	2105	P25391	LAMA1_HUMAN	F	2105	ENSP00000374309:L2105F	ENSP00000374309:L2105F	L	-	3	2	LAMA1	6967756	0.970000	0.33590	0.971000	0.41717	0.963000	0.63663	0.127000	0.15790	-0.533000	0.06323	-0.795000	0.03280	TTG		0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		16	78	0	0	0	1	0	16	78				
ZNF326	284695	broad.mit.edu	37	1	90472926	90472926	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:90472926G>A	ENST00000340281.4	+	5	375	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	78	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGAGTCTTACGACTCCAGGTC	0.423																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(232-234)Gac>Aac		zinc finger protein 326							95.0	104.0	101.0					1																	90472926		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90472926G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.232G>A	1.37:g.90472926G>A	ENSP00000340796:p.Asp78Asn					ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Intron	p.D78N	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	5	375	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	78			Gly-rich.|Mediates transcriptional activation (By similarity).		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.232G>A	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319391	0.60524	.	.	ENSG00000162664	ENST00000394590;ENST00000340281	T	0.68331	-0.32	5.7	4.78	0.61160	.	0.120977	0.56097	N	0.000031	T	0.40094	0.1103	L	0.35341	1.055	0.80722	D	1	B	0.29805	0.257	B	0.14578	0.011	T	0.49031	-0.8981	10	0.66056	D	0.02	-12.3066	14.5825	0.68302	0.0705:0.0:0.9295:0.0	.	78	Q5BKZ1	ZN326_HUMAN	N	78	ENSP00000340796:D78N	ENSP00000340796:D78N	D	+	1	0	ZNF326	90245514	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.159000	0.77483	1.385000	0.46445	0.655000	0.94253	GAC		0.423	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		4	139	0	0	0	1	0	4	139				
FLVCR1	28982	broad.mit.edu	37	1	213068366	213068366	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:213068366A>G	ENST00000366971.4	+	9	1762	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	522					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CAACATAAATATAGGAATTAC	0.279																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1564-1566)Ata>Gta		feline leukemia virus subgroup C cellular receptor 1							70.0	77.0	74.0					1																	213068366		2203	4295	6498	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213068366A>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1564A>G	1.37:g.213068366A>G	ENSP00000355938:p.Ile522Val					FLVCR1_ENST00000483790.1_3'UTR	p.I522V	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	9	1762	+			522					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.1564A>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.338|0.338	-0.952308|-0.952308	0.02285|0.02285	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.81330	.|-1.48	5.61|5.61	0.449|0.449	0.16619|0.16619	.|.	0.919824|0.919824	0.09549|0.09549	N|N	0.787201|0.787201	T|T	0.61788|0.61788	0.2375|0.2375	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.44772|0.44772	-0.9306|-0.9306	6|10	.|0.27082	.|T	.|0.32	-26.0362|-26.0362	1.0807|1.0807	0.01642|0.01642	0.4597:0.1083:0.2376:0.1944|0.4597:0.1083:0.2376:0.1944	.|.	.|522	.|Q9Y5Y0	.|FLVC1_HUMAN	M|V	320|522	.|ENSP00000355938:I522V	.|ENSP00000355938:I522V	I|I	+|+	3|1	3|0	FLVCR1|FLVCR1	211134989|211134989	0.000000|0.000000	0.05858|0.05858	0.081000|0.081000	0.20488|0.20488	0.465000|0.465000	0.32709|0.32709	0.368000|0.368000	0.20399|0.20399	0.428000|0.428000	0.26173|0.26173	-0.256000|-0.256000	0.11100|0.11100	ATA|ATA		0.279	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		44	232	0	0	0	1	0	44	232				
C1orf101	257044	broad.mit.edu	37	1	244715797	244715797	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:244715797G>A	ENST00000366534.4	+	9	764	c.710G>A	c.(709-711)aGt>aAt	p.S237N	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S237N|C1orf101_ENST00000366531.3_Missense_Mutation_p.S86N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	237						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CCACGTGGTAGTCAATTAATG	0.403																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(709-711)aGt>aAt		chromosome 1 open reading frame 101							166.0	158.0	161.0					1																	244715797		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244715797G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.710G>A	1.37:g.244715797G>A	ENSP00000355492:p.Ser237Asn					C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.S86N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S237N	p.S237N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	764	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		237					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.710G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131638	0.77662	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.59	2.47	0.30058	.	0.213572	0.37437	N	0.002098	T	0.39572	0.1083	L	0.61218	1.895	0.19945	N	0.999942	D;D;D	0.76494	0.99;0.999;0.999	P;D;D	0.69479	0.814;0.964;0.964	T	0.11060	-1.0603	10	0.87932	D	0	.	4.7948	0.13267	0.0851:0.1484:0.6138:0.1527	.	157;237;237	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	N	237;237;237;157;86	ENSP00000355492:S237N;ENSP00000355491:S237N;ENSP00000395796:S157N;ENSP00000355489:S86N	ENSP00000355489:S86N	S	+	2	0	C1orf101	242782420	0.950000	0.32346	0.931000	0.37212	0.144000	0.21451	3.205000	0.51090	0.804000	0.34136	0.650000	0.86243	AGT		0.403	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		25	213	0	0	0	1	0	25	213				
NFATC2	4773	broad.mit.edu	37	20	50048821	50048821	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048821C>T	ENST00000396009.3	-	9	2724	c.2505G>A	c.(2503-2505)gaG>gaA	p.E835E	NFATC2_ENST00000371564.3_Silent_p.E835E|NFATC2_ENST00000414705.1_Silent_p.E815E|NFATC2_ENST00000609507.1_Silent_p.E616E|NFATC2_ENST00000610033.1_Silent_p.E616E|NFATC2_ENST00000609943.1_Silent_p.E815E	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	835					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGCGAAATTCTCGCAGTACA	0.617																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2503-2505)gaG>gaA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							68.0	66.0	67.0					20																	50048821		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048821C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2505G>A	20.37:g.50048821C>T						NFATC2_ENST00000396009.3_Silent_p.E835E|NFATC2_ENST00000414705.1_Silent_p.E815E	p.E835E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2724	-	Hepatocellular(150;0.248)		835					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2505G>A	CCDS13437.1																																																																																				0.617	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		6	125	0	0	0	1	0	6	125				
FABP1	2168	broad.mit.edu	37	2	88425818	88425818	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:88425818C>T	ENST00000295834.3	-	2	215	c.117G>A	c.(115-117)tcG>tcA	p.S39S	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.S39S	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GCACGATTTCCGACACCCCCT	0.527																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(115-117)tcG>tcA		fatty acid binding protein 1, liver							308.0	256.0	273.0					2																	88425818		2203	4300	6503	SO:0001819	synonymous_variant	2168				organ morphogenesis			g.chr2:88425818C>T	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.117G>A	2.37:g.88425818C>T						FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.S39S	p.S39S			P07148	FABPL_HUMAN			2	148	-			39						Silent	SNP	ENST00000295834.3	37	c.117G>A	CCDS2001.1																																																																																				0.527	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		49	219	0	0	0	1	0	49	219				
YWHAZ	7534	broad.mit.edu	37	8	101936267	101936267	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:101936267T>C	ENST00000395957.2	-	6	935	c.594A>G	c.(592-594)gaA>gaG	p.E198E	YWHAZ_ENST00000457309.1_Silent_p.E198E|YWHAZ_ENST00000353245.3_Silent_p.E198E|YWHAZ_ENST00000419477.2_Silent_p.E198E|YWHAZ_ENST00000522819.1_Silent_p.E78E|YWHAZ_ENST00000395953.2_Silent_p.E198E|YWHAZ_ENST00000395956.3_Silent_p.E198E|YWHAZ_ENST00000395951.3_Silent_p.E198E|YWHAZ_ENST00000395948.2_Silent_p.E121E|YWHAZ_ENST00000522542.1_Silent_p.E123E|YWHAZ_ENST00000521309.1_Silent_p.E78E|YWHAZ_ENST00000395958.2_Silent_p.E198E			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	198					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			CAGCAATGGCTTCATCAAAAG	0.333																																						ENST00000395957.2																			0				large_intestine(1)|lung(2)	3						c.(592-594)gaA>gaG		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	Ginkgo biloba(DB01381)						116.0	114.0	115.0					8																	101936267		2203	4300	6503	SO:0001819	synonymous_variant	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101936267T>C	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.594A>G	8.37:g.101936267T>C						YWHAZ_ENST00000522542.1_Silent_p.E123E|YWHAZ_ENST00000395958.2_Silent_p.E198E|YWHAZ_ENST00000353245.3_Silent_p.E198E|YWHAZ_ENST00000395951.3_Silent_p.E198E|YWHAZ_ENST00000395948.2_Silent_p.E121E|YWHAZ_ENST00000419477.2_Silent_p.E198E|YWHAZ_ENST00000395956.3_Silent_p.E198E|YWHAZ_ENST00000457309.1_Silent_p.E198E|YWHAZ_ENST00000395953.2_Silent_p.E198E|YWHAZ_ENST00000522819.1_Silent_p.E78E|YWHAZ_ENST00000521309.1_Silent_p.E78E	p.E198E			P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		6	935	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		198					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Silent	SNP	ENST00000395957.2	37	c.594A>G	CCDS6290.1																																																																																				0.333	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690		28	181	0	0	0	1	0	28	181				
HRNR	388697	broad.mit.edu	37	1	152187986	152187986	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:152187986G>A	ENST00000368801.2	-	3	6194	c.6119C>T	c.(6118-6120)tCc>tTc	p.S2040F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2040					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTGGCTGGAAGACTGACC	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6118-6120)tCc>tTc		hornerin							131.0	184.0	167.0					1																	152187986		1523	3132	4655	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187986G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6119C>T	1.37:g.152187986G>A	ENSP00000357791:p.Ser2040Phe					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2040F	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6194	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2040					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6119C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432621	0.25813	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	4.42	4.42	0.53409	.	.	.	.	.	T	0.05502	0.0145	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.35871	-0.9771	9	0.32370	T	0.25	.	14.9619	0.71164	0.0:0.0:1.0:0.0	.	2040	Q86YZ3	HORN_HUMAN	F	2040	ENSP00000357791:S2040F	ENSP00000357791:S2040F	S	-	2	0	HRNR	150454610	0.003000	0.15002	0.072000	0.20136	0.048000	0.14542	0.395000	0.20850	2.471000	0.83476	0.603000	0.83216	TCC		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		91	651	0	0	0	1	0	91	651				
APOB	338	broad.mit.edu	37	2	21234388	21234388	+	Silent	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21234388A>C	ENST00000233242.1	-	26	5479	c.5352T>G	c.(5350-5352)gtT>gtG	p.V1784V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1784					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTAAATTAACAGTTTGCT	0.393																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5350-5352)gtT>gtG		apolipoprotein B	Atorvastatin(DB01076)						98.0	101.0	100.0					2																	21234388		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234388A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5352T>G	2.37:g.21234388A>C							p.V1784V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5479	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1784					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5352T>G	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			27	145	0	0	0	1	0	27	145				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	126	0	0	0	1	0	5	126				
NFIX	4784	broad.mit.edu	37	19	13192670	13192670	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:13192670G>T	ENST00000592199.1	+	8	1254		c.e8+1		NFIX_ENST00000358552.3_Splice_Site|NFIX_ENST00000360105.4_Splice_Site|NFIX_ENST00000588228.1_Splice_Site|NFIX_ENST00000587260.1_Splice_Site|NFIX_ENST00000397661.2_Splice_Site|NFIX_ENST00000585575.1_Splice_Site|NFIX_ENST00000587760.1_Splice_Site			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)						astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCGGACAGGTGAGTCCAGA	0.632											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.e6+1		nuclear factor I/X (CCAAT-binding transcription factor)							33.0	35.0	35.0					19																	13192670		1964	4132	6096	SO:0001630	splice_region_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192670G>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1254+1G>T	19.37:g.13192670G>T			OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	NFIX_ENST00000588228.1_Splice_Site|NFIX_ENST00000587760.1_Splice_Site|NFIX_ENST00000587260.1_Splice_Site|NFIX_ENST00000360105.4_Splice_Site|NFIX_ENST00000592199.1_Splice_Site|NFIX_ENST00000397661.2_Splice_Site|NFIX_ENST00000585575.1_Splice_Site				Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	1128	+								B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Splice_Site	SNP	ENST00000592199.1	37			.	.	.	.	.	.	.	.	.	.	G	29.2	4.987342	0.93106	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFIX	13053670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.079000	0.94032	2.755000	0.94549	0.655000	0.94253	.		0.632	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	Intron	10	44	1	0	0.000442599	1	0.000453734	10	44				
NFATC2	4773	broad.mit.edu	37	20	50048638	50048638	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048638C>T	ENST00000396009.3	-	9	2907	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	NFATC2_ENST00000371564.3_Silent_p.Q896Q|NFATC2_ENST00000414705.1_Silent_p.Q876Q|NFATC2_ENST00000609507.1_Silent_p.Q677Q|NFATC2_ENST00000610033.1_Silent_p.Q677Q|NFATC2_ENST00000609943.1_Silent_p.Q876Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	896					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGTTCTGCTCCTGTTTAATGG	0.522																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2686-2688)caG>caA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							183.0	159.0	167.0					20																	50048638		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048638C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2688G>A	20.37:g.50048638C>T						NFATC2_ENST00000396009.3_Silent_p.Q896Q|NFATC2_ENST00000414705.1_Silent_p.Q876Q	p.Q896Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2907	-	Hepatocellular(150;0.248)		896					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2688G>A	CCDS13437.1																																																																																				0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		17	252	0	0	0	1	0	17	252				
USP25	29761	broad.mit.edu	37	21	17199409	17199409	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:17199409T>C	ENST00000285679.6	+	14	1949	c.1580T>C	c.(1579-1581)aTa>aCa	p.I527T	USP25_ENST00000400183.2_Missense_Mutation_p.I527T|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.I527T	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	527	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGTCCCGGATACCTCCAGAT	0.473																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1579-1581)aTa>aCa		ubiquitin specific peptidase 25							152.0	131.0	138.0					21																	17199409		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17199409T>C	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1580T>C	21.37:g.17199409T>C	ENSP00000285679:p.Ile527Thr					USP25_ENST00000400183.2_Missense_Mutation_p.I527T|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.I527T	p.I527T			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	14	1949	+			527					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1580T>C	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.67|13.67	2.306731|2.306731	0.40795|0.40795	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183|ENST00000453553	T;T;T|.	0.23147|.	1.94;1.92;1.93|.	4.6|4.6	4.6|4.6	0.57074|0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.164918|.	0.52532|.	D|.	0.000069|.	T|T	0.49932|0.49932	0.1586|0.1586	N|N	0.19112|0.19112	0.55|0.55	0.52099|0.52099	D|D	0.999947|0.999947	B;P;P|.	0.37914|.	0.195;0.486;0.611|.	B;B;B|.	0.31946|.	0.089;0.138;0.138|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.13108|.	T|.	0.6|.	-11.4551|-11.4551	14.6953|14.6953	0.69118|0.69118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	527;527;527|.	Q9UHP3-3;Q9UHP3-1;Q9UHP3|.	.;.;UBP25_HUMAN|.	T|H	527|56	ENSP00000285681:I527T;ENSP00000285679:I527T;ENSP00000383044:I527T|.	ENSP00000285679:I527T|.	I|Y	+|+	2|1	0|0	USP25|USP25	16121280|16121280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.890000|5.890000	0.69774|0.69774	2.005000|2.005000	0.58758|0.58758	0.455000|0.455000	0.32223|0.32223	ATA|TAC		0.473	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			6	91	0	0	0	1	0	6	91				
NUP133	55746	broad.mit.edu	37	1	229637795	229637795	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:229637795C>A	ENST00000261396.3	-	3	447	c.356G>T	c.(355-357)tGc>tTc	p.C119F	NUP133_ENST00000537506.1_Missense_Mutation_p.C103F|NUP133_ENST00000366678.3_Missense_Mutation_p.C119F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	119					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTCTCTTTGCACACCAGACA	0.398																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(355-357)tGc>tTc		nucleoporin 133kDa							160.0	159.0	159.0					1																	229637795		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229637795C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.356G>T	1.37:g.229637795C>A	ENSP00000261396:p.Cys119Phe					NUP133_ENST00000537506.1_Missense_Mutation_p.C103F|NUP133_ENST00000366679.1_Missense_Mutation_p.C119F|NUP133_ENST00000366678.3_Missense_Mutation_p.C119F	p.C119F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			3	447	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	119					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.356G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474648	0.26511	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.94	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.240951	0.49916	D	0.000139	T	0.28034	0.0691	L	0.42245	1.32	0.46521	D	0.999087	B	0.15930	0.015	B	0.17433	0.018	T	0.05225	-1.0898	10	0.10377	T	0.69	-3.6105	6.2388	0.20778	0.2751:0.5472:0.0:0.1776	.	119	Q8WUM0	NU133_HUMAN	F	119;119;119;103;119	ENSP00000261396:C119F;ENSP00000355640:C119F;ENSP00000443496:C103F;ENSP00000355639:C119F	ENSP00000261396:C119F	C	-	2	0	NUP133	227704418	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.908000	0.39907	0.829000	0.34733	-0.321000	0.08615	TGC		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		100	110	1	0	1.62402e-62	1	1.96086e-62	100	110				
BMP1	649	broad.mit.edu	37	8	22066962	22066962	+	Silent	SNP	C	C	T	rs372744146		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:22066962C>T	ENST00000306385.5	+	19	3250	c.2580C>T	c.(2578-2580)tgC>tgT	p.C860C	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	860	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACAGAGTGCGGGGGCCAGG	0.637																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2578-2580)tgC>tgT		bone morphogenetic protein 1		C		0,4406		0,0,2203	113.0	101.0	105.0		2580	-7.9	0.6	8		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP1	NM_006129.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		860/987	22066962	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22066962C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2580C>T	8.37:g.22066962C>T						BMP1_ENST00000354870.5_3'UTR	p.C860C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3250	+			860			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2580C>T	CCDS6026.1																																																																																				0.637	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		4	101	0	0	0	1	0	4	101				
NAALADL2	254827	broad.mit.edu	37	3	174951994	174951994	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:174951994G>C	ENST00000454872.1	+	3	947	c.819G>C	c.(817-819)aaG>aaC	p.K273N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	273						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAACTCTCAAGGTAATATGAC	0.388																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e3+1		N-acetylated alpha-linked acidic dipeptidase-like 2							71.0	66.0	68.0					3																	174951994		1897	4123	6020	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951994G>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.819+1G>C	3.37:g.174951994G>C						NAALADL2_ENST00000473253.1_3'UTR	p.K273_splice	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	947	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	273					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37	c.819_splice	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307978	0.60305	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.44083	0.93	5.57	5.57	0.84162	.	0.484280	0.19478	N	0.113284	T	0.33702	0.0872	N	0.17082	0.46	0.40874	D	0.983939	P;B	0.36392	0.551;0.201	B;B	0.37731	0.257;0.023	T	0.13953	-1.0490	10	0.32370	T	0.25	-1.6002	19.6153	0.95632	0.0:0.0:1.0:0.0	.	256;273	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	273;80	ENSP00000404705:K273N	ENSP00000314951:K80N	K	+	3	2	NAALADL2	176434688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.652000	0.90054	0.650000	0.86243	AAG		0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Missense_Mutation	9	75	0	0	0	1	0	9	75				
SCARF1	8578	broad.mit.edu	37	17	1538471	1538471	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:1538471A>G	ENST00000263071.4	-	11	2123	c.2074T>C	c.(2074-2076)Tac>Cac	p.Y692H	SCARF1_ENST00000348987.3_Missense_Mutation_p.Y606H|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	692	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCAGCATGTAGATCGTGGTC	0.647																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2074-2076)Tac>Cac		scavenger receptor class F, member 1							42.0	38.0	39.0					17																	1538471		2203	4298	6501	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538471A>G	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2074T>C	17.37:g.1538471A>G	ENSP00000263071:p.Tyr692His					SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.Y606H	p.Y692H	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2123	-			692			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2074T>C	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025772	0.54683	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.34275	1.37;1.88	5.21	5.21	0.72293	.	0.000000	0.39274	N	0.001409	T	0.58395	0.2119	M	0.71581	2.175	0.39817	D	0.972783	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60939	-0.7163	10	0.40728	T	0.16	-29.7712	14.2916	0.66281	1.0:0.0:0.0:0.0	.	606;692	Q14162-2;Q14162	.;SREC_HUMAN	H	692;606	ENSP00000263071:Y692H;ENSP00000323964:Y606H	ENSP00000263071:Y692H	Y	-	1	0	SCARF1	1485221	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	5.255000	0.65462	1.965000	0.57142	0.454000	0.30748	TAC		0.647	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		13	74	0	0	0	1	0	13	74				
TSTD2	158427	broad.mit.edu	37	9	100380037	100380037	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:100380037A>G	ENST00000341170.4	-	4	986		c.e4+1		TSTD2_ENST00000484708.1_Splice_Site|TSTD2_ENST00000354801.2_Splice_Site	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGAAGGTGTTACCTTGCCTGT	0.488																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.e4+1		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							128.0	99.0	109.0					9																	100380037		2203	4300	6503	SO:0001630	splice_region_variant	158427							g.chr9:100380037A>G	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.603+1T>C	9.37:g.100380037A>G						TSTD2_ENST00000375172.2_Splice_Site|TSTD2_ENST00000484708.1_Splice_Site|TSTD2_ENST00000375165.1_Splice_Site|TSTD2_ENST00000375163.1_Splice_Site|TSTD2_ENST00000354801.2_Splice_Site		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			4	986	-								A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Splice_Site	SNP	ENST00000341170.4	37		CCDS6727.2	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598247	0.66332	.	.	ENSG00000136925	ENST00000341170;ENST00000375165;ENST00000354801	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9754	0.71267	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSTD2	99419858	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	7.419000	0.80179	2.079000	0.62486	0.374000	0.22700	.		0.488	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246	Intron	3	48	0	0	0	1	0	3	48				
PRM2	5620	broad.mit.edu	37	16	11370095	11370095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:11370095C>T	ENST00000241808.4	-	1	242	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PRM2_ENST00000435245.2_Missense_Mutation_p.E45K|SNORA48_ENST00000390926.1_RNA|RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_5'Flank	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	45					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGGGTCCTCTCGTAGACCTCG	0.627																																						ENST00000435245.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						c.(133-135)Gag>Aag		protamine 2							88.0	93.0	92.0					16																	11370095		2164	4272	6436	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11370095C>T		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.133G>A	16.37:g.11370095C>T	ENSP00000241808:p.Glu45Lys					RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.E45K	p.E45K			P04554	PRM2_HUMAN			1	242	-			45					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.133G>A	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448173	0.43429	.	.	ENSG00000122304	ENST00000241808;ENST00000435245	.	.	.	3.14	1.1	0.20463	.	0.606668	0.13698	N	0.369078	T	0.18087	0.0434	N	0.14661	0.345	0.09310	N	1	B;B	0.34313	0.448;0.448	B;B	0.23150	0.044;0.044	T	0.10894	-1.0610	9	0.87932	D	0	-8.3448	9.2167	0.37351	0.0:0.5795:0.4205:0.0	.	45;45	Q6ZMM0;P04554	.;PRM2_HUMAN	K	45	.	ENSP00000241808:E45K	E	-	1	0	PRM2	11277596	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.113000	0.15499	0.344000	0.23847	0.491000	0.48974	GAG		0.627	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			58	111	0	0	0	1	0	58	111				
KCNJ13	3769	broad.mit.edu	37	2	233635903	233635903	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:233635903A>G	ENST00000233826.3	-	2	309	c.170T>C	c.(169-171)aTg>aCg	p.M57T	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.M57T|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.M57T	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	57					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AAAGACCAACATCATCCAACG	0.473																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(169-171)aTg>aCg		potassium inwardly-rectifying channel, subfamily J, member 13							197.0	185.0	189.0					2																	233635903		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635903A>G	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.170T>C	2.37:g.233635903A>G	ENSP00000233826:p.Met57Thr					GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.M57T|KCNJ13_ENST00000409779.1_Missense_Mutation_p.M57T	p.M57T	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	309	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	57					A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.170T>C	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180196	0.57800	.	.	ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029	D;D;D	0.94046	-3.34;-3.34;-3.34	5.54	5.54	0.83059	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.127332	0.85682	D	0.000000	D	0.91412	0.7290	L	0.55743	1.74	0.80722	D	1	B;B	0.30563	0.033;0.285	B;B	0.28011	0.053;0.085	D	0.90645	0.4578	10	0.87932	D	0	.	15.6731	0.77295	1.0:0.0:0.0:0.0	.	57;57	O60928;A0PGH1	IRK13_HUMAN;.	T	57	ENSP00000233826:M57T;ENSP00000386408:M57T;ENSP00000386251:M57T	ENSP00000233826:M57T	M	-	2	0	KCNJ13	233344147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.300000	0.96151	2.096000	0.63516	0.533000	0.62120	ATG		0.473	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		15	38	0	0	0	1	0	15	38				
GP1BA	2811	broad.mit.edu	37	17	4836918	4836918	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:4836918C>T	ENST00000329125.5	+	2	1094	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	340					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAAATGCCCTCCTCCTTGCAT	0.507																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(1018-1020)tCc>tTc		glycoprotein Ib (platelet), alpha polypeptide							159.0	151.0	153.0					17																	4836918		1976	4171	6147	SO:0001583	missense	2811							g.chr17:4836918C>T		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1019C>T	17.37:g.4836918C>T	ENSP00000329380:p.Ser340Phe						p.S340F	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	1094	+			340					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.1019C>T	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462392	0.12342	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.48836	0.8	0.833	-1.65	0.08291	.	0.882556	0.09296	N	0.821593	T	0.41373	0.1156	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.47528	0.549	T	0.38802	-0.9644	10	0.87932	D	0	.	2.9722	0.05926	0.4876:0.5123:0.0:0.0	.	340	A5CKE2	.	F	340	ENSP00000329380:S340F	ENSP00000329380:S340F	S	+	2	0	GP1BA	4777698	0.000000	0.05858	0.021000	0.16686	0.013000	0.08279	-0.008000	0.12788	0.202000	0.20498	0.205000	0.17691	TCC		0.507	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			62	106	0	0	0	1	0	62	106				
GPR37L1	9283	broad.mit.edu	37	1	202092323	202092323	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:202092323C>G	ENST00000367282.5	+	1	338	c.232C>G	c.(232-234)Cca>Gca	p.P78A		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	78					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TGGCCTGCAGCCAACCAAGCC	0.662																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(232-234)Cca>Gca		G protein-coupled receptor 37 like 1							42.0	40.0	41.0					1																	202092323		2203	4299	6502	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092323C>G	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.232C>G	1.37:g.202092323C>G	ENSP00000356251:p.Pro78Ala						p.P78A	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	338	+			78					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.232C>G	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266749	0.40095	.	.	ENSG00000170075	ENST00000367282	T	0.79940	-1.32	5.13	5.13	0.70059	.	0.071876	0.56097	D	0.000021	T	0.72011	0.3408	L	0.56769	1.78	0.48040	D	0.999576	P	0.35272	0.493	B	0.23275	0.045	T	0.71371	-0.4613	10	0.07482	T	0.82	-38.2143	16.3545	0.83230	0.0:1.0:0.0:0.0	.	78	O60883	ETBR2_HUMAN	A	78	ENSP00000356251:P78A	ENSP00000356251:P78A	P	+	1	0	GPR37L1	200358946	0.994000	0.37717	1.000000	0.80357	0.915000	0.54546	2.859000	0.48364	2.370000	0.80446	0.462000	0.41574	CCA		0.662	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		4	35	0	0	0	1	0	4	35				
ARMC5	79798	broad.mit.edu	37	16	31477790	31477790	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:31477790G>A	ENST00000563544.1	+	7	2934	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	ARMC5_ENST00000408912.3_Silent_p.S891S|ARMC5_ENST00000538189.1_Silent_p.S828S|ARMC5_ENST00000412665.2_Silent_p.S440S|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.S796S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	796	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGTCTGTCGCCTGGTGCAG	0.687																																						ENST00000408912.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2671-2673)tcG>tcA		armadillo repeat containing 5							29.0	34.0	33.0					16																	31477790		2043	4173	6216	SO:0001819	synonymous_variant	79798						binding	g.chr16:31477790G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2388G>A	16.37:g.31477790G>A						ARMC5_ENST00000412665.2_Silent_p.S440S|ARMC5_ENST00000563544.1_Silent_p.S796S|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.S796S|ARMC5_ENST00000538189.1_Silent_p.S828S	p.S891S			Q96C12	ARMC5_HUMAN			8	2990	+			796					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2673G>A	CCDS45472.1																																																																																				0.687	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		19	42	0	0	0	1	0	19	42				
ACBD3	64746	broad.mit.edu	37	1	226342369	226342369	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:226342369C>A	ENST00000366812.5	-	6	1123	c.1069G>T	c.(1069-1071)Gcc>Tcc	p.A357S	ACBD3_ENST00000464927.1_5'UTR|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	357					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTCTCCAGGGCTTCTTCTGCA	0.413																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1069-1071)Gcc>Tcc		acyl-CoA binding domain containing 3							189.0	179.0	183.0					1																	226342369		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226342369C>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1069G>T	1.37:g.226342369C>A	ENSP00000355777:p.Ala357Ser					RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'UTR	p.A357S	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	6	1123	-	Breast(184;0.158)		357					B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1069G>T	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961648	0.53400	.	.	ENSG00000182827	ENST00000366812	T	0.46819	0.86	5.23	5.23	0.72850	.	0.381502	0.30020	N	0.010608	T	0.38639	0.1048	L	0.51422	1.61	0.36777	D	0.884128	P	0.35433	0.501	B	0.32864	0.154	T	0.38308	-0.9667	10	0.08599	T	0.76	-0.4125	14.4048	0.67075	0.0:0.8524:0.1476:0.0	.	357	Q9H3P7	GCP60_HUMAN	S	357	ENSP00000355777:A357S	ENSP00000355777:A357S	A	-	1	0	ACBD3	224408992	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	2.769000	0.47654	2.430000	0.82344	0.491000	0.48974	GCC		0.413	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		87	93	1	0	4.69036e-40	1	5.62153e-40	87	93				
PDZRN4	29951	broad.mit.edu	37	12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:41966931G>A	ENST00000402685.2	+	10	2358	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	PDZRN4_ENST00000298919.7_Missense_Mutation_p.G524R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512																																						ENST00000298919.7																			1	Substitution - Missense(1)	p.G526R(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1570-1572)Gga>Aga		PDZ domain containing ring finger 4							109.0	109.0	109.0					12																	41966931		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966931G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2350G>A	12.37:g.41966931G>A	ENSP00000384197:p.Gly784Arg					PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R	p.G524R			Q6ZMN7	PZRN4_HUMAN			10	1958	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	784					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1570G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323271	0.01309	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.43294	0.95;0.95;0.95	5.02	3.16	0.36331	.	1.516350	0.03598	N	0.232999	T	0.29524	0.0736	N	0.16656	0.425	0.29554	N	0.851159	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.08055	0.002;0.003;0.003	T	0.23190	-1.0195	10	0.17832	T	0.49	-16.4014	9.327	0.37999	0.2387:0.0:0.7613:0.0	.	784;524;526	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	784;526;524	ENSP00000384197:G784R;ENSP00000439990:G526R;ENSP00000298919:G524R	ENSP00000298919:G524R	G	+	1	0	PDZRN4	40253198	0.921000	0.31238	0.178000	0.23040	0.064000	0.16182	1.339000	0.33885	0.763000	0.33175	0.650000	0.86243	GGA		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		30	114	0	0	0	1	0	30	114				
GSTM1	2944	broad.mit.edu	37	1	110231856	110231856	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:110231856C>G	ENST00000309851.5	+	5	323	c.269C>G	c.(268-270)aCa>aGa	p.T90R	GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.T90R|GSTM1_ENST00000369823.2_Missense_Mutation_p.T109R|GSTM1_ENST00000483399.2_Missense_Mutation_p.Q63E|GSTM1_ENST00000349334.3_Missense_Mutation_p.T90R|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_3'UTR	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	90	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Azathioprine(DB00993)|Busulfan(DB01008)|Carboplatin(DB00958)|Cisplatin(DB00515)|Glutathione(DB00143)|Oxaliplatin(DB00526)	GGTGGGGAGACAGAAGAGGAG	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000309851.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(268-270)aCa>aGa		glutathione S-transferase mu 1	Glutathione(DB00143)						279.0	167.0	214.0					1																	110231856		1715	2377	4092	SO:0001583	missense	2944	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Familial Head and Neck Cancer; ;AIMAH, Cushing disease, Adrenal, Familial	xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr1:110231856C>G	BC036805	CCDS809.1, CCDS810.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134184	ENSG00000134184	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4632	protein-coding gene	gene with protein product		138350	"""glutathione S-transferase M1"""	GST1			Standard	NM_000561		Approved	MU, H-B	uc001dyk.3	P09488	OTTHUMG00000011635	ENST00000309851.5:c.269C>G	1.37:g.110231856C>G	ENSP00000311469:p.Thr90Arg					GSTM1_ENST00000349334.3_Missense_Mutation_p.T90R|GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000369819.2_Missense_Mutation_p.T90R|GSTM1_ENST00000483399.2_Missense_Mutation_p.Q63E|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369823.2_Missense_Mutation_p.T109R|GSTM2_ENST00000369831.2_Intron	p.T90R	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	323	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	90			GST C-terminal.		Q5GHG0|Q6FH88|Q8TC98|Q9UC96	Missense_Mutation	SNP	ENST00000309851.5	37	c.269C>G	CCDS809.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485890	0.44147	.	.	ENSG00000134184	ENST00000369823;ENST00000349334;ENST00000309851;ENST00000369819	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	3.17	3.17	0.36434	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.074283	0.51477	U	0.000082	T	0.19208	0.0461	H	0.96460	3.825	0.43133	D	0.994879	P;P	0.50943	0.909;0.94	P;B	0.61328	0.887;0.382	T	0.09662	-1.0664	10	0.87932	D	0	.	11.6567	0.51322	0.0:1.0:0.0:0.0	.	90;90	P09488-2;P09488	.;GSTM1_HUMAN	R	109;90;90;90	ENSP00000358838:T109R;ENSP00000234981:T90R;ENSP00000311469:T90R;ENSP00000358834:T90R	ENSP00000311469:T90R	T	+	2	0	GSTM1	110033379	0.986000	0.35501	1.000000	0.80357	0.881000	0.50899	2.687000	0.46976	1.758000	0.51981	0.313000	0.20887	ACA		0.532	GSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032151.2	NM_000561		3	40	0	0	0	1	0	3	40				
UNC5D	137970	broad.mit.edu	37	8	35647965	35647965	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:35647965G>A	ENST00000404895.2	+	17	3074	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	UNC5D_ENST00000287272.2_Missense_Mutation_p.D847N|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.D911N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D849N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D492N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D921N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	916	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGTGATCTTGACTCCCTGGC	0.468																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2539-2541)Gac>Aac		unc-5 homolog D (C. elegans)							155.0	124.0	134.0					8																	35647965		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647965G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2746G>A	8.37:g.35647965G>A	ENSP00000385143:p.Asp916Asn					UNC5D_ENST00000416672.1_Missense_Mutation_p.D921N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D911N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D916N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D849N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D492N	p.D847N			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2559	+			916					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2539G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099865	0.56183	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	L	0.33485	1.01	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.996	T	0.80848	-0.1199	10	0.06236	T	0.91	-31.3731	19.873	0.96856	0.0:0.0:1.0:0.0	.	492;911;916	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	N	916;849;847;921;911;492	ENSP00000385143:D916N;ENSP00000392739:D849N;ENSP00000287272:D847N;ENSP00000412652:D921N;ENSP00000394303:D911N;ENSP00000397211:D492N	ENSP00000287272:D847N	D	+	1	0	UNC5D	35767507	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.357000	0.97099	2.705000	0.92388	0.557000	0.71058	GAC		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	88	0	0	0	1	0	5	88				
AGGF1	55109	broad.mit.edu	37	5	76335360	76335360	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:76335360A>G	ENST00000312916.7	+	5	1068	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	229					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TCAAAGGAAAATCAACTCTAT	0.294																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(685-687)aAt>aGt		angiogenic factor with G patch and FHA domains 1							67.0	65.0	66.0					5																	76335360		2201	4299	6500	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76335360A>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.686A>G	5.37:g.76335360A>G	ENSP00000316109:p.Asn229Ser						p.N229S	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	5	1068	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	229					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.686A>G	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.224842	0.06022	.	.	ENSG00000164252	ENST00000312916	D	0.85013	-1.93	4.91	4.91	0.64330	.	0.097504	0.64402	D	0.000001	T	0.58836	0.2150	N	0.03071	-0.42	0.80722	D	1	P	0.39391	0.671	B	0.31686	0.134	T	0.68977	-0.5267	10	0.02654	T	1	-10.966	10.6231	0.45491	0.7029:0.2971:0.0:0.0	.	229	Q8N302	AGGF1_HUMAN	S	229	ENSP00000316109:N229S	ENSP00000316109:N229S	N	+	2	0	AGGF1	76371116	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	2.977000	0.49297	1.951000	0.56629	0.477000	0.44152	AAT		0.294	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		11	51	0	0	0	1	0	11	51				
GPR83	10888	broad.mit.edu	37	11	94134200	94134200	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:94134200C>T	ENST00000243673.2	-	1	385	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GPR83_ENST00000539203.2_Missense_Mutation_p.A72T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	72					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGAGCAGGGCTTTCACCGTG	0.537																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(214-216)Gcc>Acc		G protein-coupled receptor 83							95.0	91.0	93.0					11																	94134200		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134200C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.214G>A	11.37:g.94134200C>T	ENSP00000243673:p.Ala72Thr					GPR83_ENST00000539203.2_Missense_Mutation_p.A72T	p.A72T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			1	385	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	72					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.214G>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450479	0.84101	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.36878	1.23;1.23	4.74	3.82	0.43975	.	0.053201	0.85682	D	0.000000	T	0.40932	0.1137	M	0.61703	1.905	0.58432	D	0.999994	P	0.52842	0.956	P	0.48368	0.575	T	0.20974	-1.0259	10	0.30078	T	0.28	.	11.8045	0.52145	0.0:0.9141:0.0:0.0859	.	72	Q9NYM4	GPR83_HUMAN	T	72	ENSP00000243673:A72T;ENSP00000441550:A72T	ENSP00000243673:A72T	A	-	1	0	GPR83	93773848	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.609000	0.61148	0.986000	0.38683	0.455000	0.32223	GCC		0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		11	77	0	0	0	1	0	11	77				
APOB	338	broad.mit.edu	37	2	21233058	21233058	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21233058C>T	ENST00000233242.1	-	26	6809	c.6682G>A	c.(6682-6684)Gat>Aat	p.D2228N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2228					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATGTAGATCATGGATTGTT	0.279																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6682-6684)Gat>Aat		apolipoprotein B	Atorvastatin(DB01076)						36.0	37.0	37.0					2																	21233058		2201	4295	6496	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233058C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6682G>A	2.37:g.21233058C>T	ENSP00000233242:p.Asp2228Asn						p.D2228N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6809	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2228					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6682G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763818	0.02996	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00672	5.89	5.76	-1.75	0.08031	.	0.901120	0.09621	N	0.777616	T	0.00580	0.0019	N	0.16478	0.41	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.43589	-0.9382	10	0.13853	T	0.58	.	8.9298	0.35663	0.0:0.3358:0.1035:0.5607	.	2228	P04114	APOB_HUMAN	N	2228	ENSP00000233242:D2228N	ENSP00000233242:D2228N	D	-	1	0	APOB	21086563	0.000000	0.05858	0.003000	0.11579	0.682000	0.39822	-0.354000	0.07681	-0.741000	0.04797	-0.258000	0.10820	GAT		0.279	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	98	0	0	0	1	0	7	98				
KIAA0556	23247	broad.mit.edu	37	16	27642470	27642470	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:27642470G>A	ENST00000261588.4	+	5	414	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	132						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCAGCGCCGAGGATGGCAC	0.517																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(394-396)cGa>cAa		KIAA0556							30.0	26.0	28.0					16																	27642470		2194	4291	6485	SO:0001583	missense	23247							g.chr16:27642470G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.395G>A	16.37:g.27642470G>A	ENSP00000261588:p.Arg132Gln						p.R132Q	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			5	414	+			132					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.395G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075507	0.76415	.	.	ENSG00000047578	ENST00000261588	T	0.43294	0.95	4.87	3.81	0.43845	.	0.095522	0.41605	D	0.000845	T	0.53786	0.1818	M	0.69823	2.125	0.26728	N	0.970656	D	0.69078	0.997	P	0.59171	0.853	T	0.48811	-0.9002	10	0.66056	D	0.02	-5.5814	7.8587	0.29497	0.1599:0.0:0.8401:0.0	.	132	O60303	K0556_HUMAN	Q	132	ENSP00000261588:R132Q	ENSP00000261588:R132Q	R	+	2	0	KIAA0556	27549971	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.241000	0.73720	0.455000	0.32223	CGA		0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		4	7	0	0	0	1	0	4	7				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	41	0	0	0	1	0	6	41				
RNF216	54476	broad.mit.edu	37	7	5769095	5769095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:5769095C>T	ENST00000425013.2	-	7	1410	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RNF216_ENST00000389902.3_Missense_Mutation_p.E453K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	396					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E453*(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTTTGAGCTCGTGCAGGGCC	0.512																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Nonsense(1)	p.E453*(1)	lung(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1186-1188)Gag>Aag		ring finger protein 216							148.0	132.0	138.0					7																	5769095		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5769095C>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1186G>A	7.37:g.5769095C>T	ENSP00000404602:p.Glu396Lys					RNF216_ENST00000389902.3_Missense_Mutation_p.E453K	p.E396K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	7	1410	-		Ovarian(82;0.07)	396					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1186G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921263	0.92249	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.48522	0.82;0.81	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	L	0.27053	0.805	0.45342	D	0.998332	P;D	0.89917	0.912;1.0	B;D	0.66351	0.256;0.943	T	0.56829	-0.7914	10	0.51188	T	0.08	-20.407	18.9132	0.92494	0.0:1.0:0.0:0.0	.	396;453	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	K	396;453;208	ENSP00000404602:E396K;ENSP00000374552:E453K	ENSP00000374552:E453K	E	-	1	0	RNF216	5735621	0.994000	0.37717	0.977000	0.42913	0.985000	0.73830	3.204000	0.51082	2.783000	0.95769	0.655000	0.94253	GAG		0.512	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		16	122	0	0	0	1	0	16	122				
MFSD10	10227	broad.mit.edu	37	4	2933350	2933350	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:2933350T>A	ENST00000329687.4	-	8	1489	c.955A>T	c.(955-957)Atg>Ttg	p.M319L	MFSD10_ENST00000514800.1_Missense_Mutation_p.M319L|MFSD10_ENST00000508221.1_Missense_Mutation_p.M319L|MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000355443.4_Missense_Mutation_p.M319L	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	319					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGGTGGCCATGGTGAGGCCG	0.682																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(955-957)Atg>Ttg		major facilitator superfamily domain containing 10							42.0	43.0	42.0					4																	2933350		2202	4300	6502	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2933350T>A	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.955A>T	4.37:g.2933350T>A	ENSP00000332646:p.Met319Leu					MFSD10_ENST00000355443.4_Missense_Mutation_p.M319L|MFSD10_ENST00000514800.1_Missense_Mutation_p.M319L|MFSD10_ENST00000508221.1_Missense_Mutation_p.M319L|MFSD10_ENST00000507555.1_Intron	p.M319L	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	8	1489	-			319					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.955A>T	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545827	0.65198	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.19	4.19	0.49359	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.60067	1.865	0.80722	D	1	B;B;B	0.33857	0.028;0.429;0.208	B;B;B	0.41988	0.059;0.372;0.308	T	0.56329	-0.7997	10	0.40728	T	0.16	.	13.2855	0.60241	0.0:0.0:0.0:1.0	.	319;319;319	D6RIZ4;D6RE79;Q14728	.;.;MFS10_HUMAN	L	319	ENSP00000426907:M319L;ENSP00000347619:M319L;ENSP00000332646:M319L;ENSP00000425757:M319L	ENSP00000332646:M319L	M	-	1	0	MFSD10	2903148	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.773000	0.85462	1.534000	0.49203	0.459000	0.35465	ATG		0.682	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		10	22	0	0	0	1	0	10	22				
NSMCE4A	54780	broad.mit.edu	37	10	123722762	123722762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:123722762G>A	ENST00000369023.3	-	6	886	c.835C>T	c.(835-837)Cga>Tga	p.R279*	NSMCE4A_ENST00000538652.1_Nonsense_Mutation_p.R120*|NSMCE4A_ENST00000369017.5_Nonsense_Mutation_p.R279*|NSMCE4A_ENST00000489266.1_5'UTR	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	279					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CGATCTTCTCGAAAATATGTC	0.333																																						ENST00000538652.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.(358-360)Cga>Tga		non-SMC element 4 homolog A (S. cerevisiae)							200.0	175.0	183.0					10																	123722762		2203	4297	6500	SO:0001587	stop_gained	54780							g.chr10:123722762G>A	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.835C>T	10.37:g.123722762G>A	ENSP00000358019:p.Arg279*					NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Nonsense_Mutation_p.R279*|NSMCE4A_ENST00000369023.3_Nonsense_Mutation_p.R279*	p.R120*			Q9NXX6	NSE4A_HUMAN			6	995	-		all_neural(114;0.138)|Glioma(114;0.222)	279					Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Nonsense_Mutation	SNP	ENST00000369023.3	37	c.358C>T	CCDS7624.1	.	.	.	.	.	.	.	.	.	.	G	42	9.751098	0.99255	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.56	3.6	0.41247	.	0.346526	0.32753	N	0.005692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9159	9.8544	0.41077	0.0:0.1257:0.6442:0.2301	.	.	.	.	X	279;120;279	.	ENSP00000358013:R279X	R	-	1	2	NSMCE4A	123712752	0.725000	0.28048	1.000000	0.80357	0.878000	0.50629	0.156000	0.16382	2.784000	0.95788	0.644000	0.83932	CGA		0.333	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615		19	58	0	0	0	1	0	19	58				
OR5B12	390191	broad.mit.edu	37	11	58207450	58207450	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:58207450A>C	ENST00000302572.2	-	1	196	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGGAAGAAGTACATGGGG	0.463																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(175-177)Ttc>Gtc		olfactory receptor, family 5, subfamily B, member 12							62.0	65.0	64.0					11																	58207450		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207450A>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.175T>G	11.37:g.58207450A>C	ENSP00000306657:p.Phe59Val						p.F59V	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	196	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	59					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.175T>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	8.432	0.848768	0.17034	.	.	ENSG00000172362	ENST00000302572	T	0.00922	5.54	4.61	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.160399	0.29653	N	0.011556	T	0.02610	0.0079	H	0.94847	3.59	0.26898	N	0.967163	B	0.15473	0.013	B	0.16722	0.016	T	0.29274	-1.0017	10	0.66056	D	0.02	-8.6225	4.9814	0.14166	0.7508:0.0:0.0874:0.1618	.	59	Q96R08	OR5BC_HUMAN	V	59	ENSP00000306657:F59V	ENSP00000306657:F59V	F	-	1	0	OR5B12	57964026	0.973000	0.33851	0.997000	0.53966	0.183000	0.23260	0.551000	0.23361	0.911000	0.36747	0.379000	0.24179	TTC		0.463	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		11	69	0	0	0	1	0	11	69				
PRKRIR	5612	broad.mit.edu	37	11	76063373	76063373	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:76063373T>A	ENST00000260045.3	-	5	926	c.821A>T	c.(820-822)gAg>gTg	p.E274V	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	274					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGGTAGGTGCTCTTCCCCTGC	0.438																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(820-822)gAg>gTg		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							26.0	28.0	27.0					11																	76063373		2115	4138	6253	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063373T>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.821A>T	11.37:g.76063373T>A	ENSP00000260045:p.Glu274Val						p.E274V	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	926	-			274					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.821A>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451123	0.63290	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22743	1.94;1.94	4.95	3.81	0.43845	Ribonuclease H-like (1);	0.135238	0.64402	D	0.000002	T	0.39436	0.1078	M	0.65498	2.005	0.44149	D	0.996944	D	0.71674	0.998	D	0.63033	0.91	T	0.21449	-1.0245	10	0.87932	D	0	.	10.8191	0.46593	0.0:0.0755:0.0:0.9245	.	274	O43422	P52K_HUMAN	V	99;274	ENSP00000436249:E99V;ENSP00000260045:E274V	ENSP00000260045:E274V	E	-	2	0	PRKRIR	75741021	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	2.926000	0.48892	0.867000	0.35654	0.472000	0.43445	GAG		0.438	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		42	57	0	0	0	1	0	42	57				
TRPC6	7225	broad.mit.edu	37	11	101325814	101325814	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325814G>T	ENST00000344327.3	-	11	2927	c.2503C>A	c.(2503-2505)Cca>Aca	p.P835T	TRPC6_ENST00000348423.4_Missense_Mutation_p.P719T|TRPC6_ENST00000532133.1_Missense_Mutation_p.P757T|TRPC6_ENST00000360497.4_Missense_Mutation_p.P780T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	835					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTATACTTGGTTGTTTATTG	0.294																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2503-2505)Cca>Aca		transient receptor potential cation channel, subfamily C, member 6							103.0	106.0	105.0					11																	101325814		2202	4292	6494	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101325814G>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2503C>A	11.37:g.101325814G>T	ENSP00000340913:p.Pro835Thr					TRPC6_ENST00000348423.4_Missense_Mutation_p.P719T|TRPC6_ENST00000532133.1_Missense_Mutation_p.P757T|TRPC6_ENST00000360497.4_Missense_Mutation_p.P780T	p.P835T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	11	2927	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	835					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2503C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473719	0.04414	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.69	2.02	0.26589	.	0.659654	0.15395	N	0.264634	T	0.52338	0.1728	N	0.08118	0	0.20873	N	0.999831	B;B;B	0.14805	0.011;0.004;0.005	B;B;B	0.15052	0.012;0.006;0.006	T	0.33266	-0.9875	10	0.10377	T	0.69	-6.807	6.9988	0.24797	0.7409:0.1257:0.1334:0.0	.	780;719;835	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	835;757;719;780	ENSP00000340913:P835T;ENSP00000435574:P757T;ENSP00000343672:P719T;ENSP00000353687:P780T	ENSP00000340913:P835T	P	-	1	0	TRPC6	100831024	0.999000	0.42202	0.629000	0.29254	0.029000	0.11900	2.935000	0.48963	0.092000	0.17331	-1.122000	0.02009	CCA		0.294	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		11	395	1	0	0.000673444	1	0.00068181	11	395				
MARS	4141	broad.mit.edu	37	12	57908984	57908984	+	Silent	SNP	C	C	G	rs201540140		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:57908984C>G	ENST00000262027.5	+	18	2390	c.2256C>G	c.(2254-2256)ctC>ctG	p.L752L	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Silent_p.L518L	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	752					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCCTTGCTCTCTGTCATGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18900	0.001		0.0	False		,,,				2504	0.0					ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(2254-2256)ctC>ctG		methionyl-tRNA synthetase	L-Methionine(DB00134)						99.0	85.0	90.0					12																	57908984		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57908984C>G	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2256C>G	12.37:g.57908984C>G						MARS_ENST00000315473.5_Silent_p.L518L	p.L752L	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		18	2390	+			752					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.2256C>G	CCDS8942.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.978	0.750481	0.15778	.	.	ENSG00000166986	ENST00000547665	T	0.50548	0.74	5.42	-1.2	0.09554	.	0.081963	0.51477	D	0.000092	T	0.42944	0.1225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27262	-1.0079	7	0.51188	T	0.08	-10.9637	2.8718	0.05619	0.1349:0.3225:0.3362:0.2064	.	.	.	.	V	18	ENSP00000448910:L18V	ENSP00000448910:L18V	L	+	1	0	MARS	56195251	0.854000	0.29725	0.829000	0.32907	0.923000	0.55619	-0.228000	0.09114	-0.117000	0.11872	-0.165000	0.13383	CTC		0.547	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		10	79	0	0	0	1	0	10	79				
TRMT2B	79979	broad.mit.edu	37	X	100265668	100265668	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:100265668T>C	ENST00000372936.3	-	14	2189	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	TRMT2B_ENST00000545398.1_Missense_Mutation_p.K473E|TRMT2B_ENST00000338687.7_Missense_Mutation_p.K428E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K473E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.K428E	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	473						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTAAGAGCTTCTTAGCAGGG	0.488																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1282-1284)Aag>Gag		tRNA methyltransferase 2 homolog B (S. cerevisiae)							92.0	76.0	81.0					X																	100265668		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100265668T>C	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1417A>G	X.37:g.100265668T>C	ENSP00000362027:p.Lys473Glu					TRMT2B_ENST00000372939.1_Missense_Mutation_p.K428E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K473E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.K473E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K473E	p.K428E			Q96GJ1	TRM2_HUMAN			13	2087	-			473					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.1282A>G	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240236	0.39598	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.23	3.01	0.34805	.	0.168610	0.50627	D	0.000101	T	0.38374	0.1038	M	0.66939	2.045	0.80722	D	1	P;B	0.42296	0.775;0.121	B;B	0.39660	0.306;0.292	T	0.10683	-1.0619	10	0.33141	T	0.24	-11.8958	8.7145	0.34403	0.0:0.0:0.189:0.811	.	428;473	Q96GJ1-3;Q96GJ1	.;TRM2_HUMAN	E	428;473;428;473;473	ENSP00000340970:K428E;ENSP00000438134:K473E;ENSP00000362030:K428E;ENSP00000362026:K473E;ENSP00000362027:K473E	ENSP00000340970:K428E	K	-	1	0	TRMT2B	100152324	1.000000	0.71417	0.855000	0.33649	0.282000	0.26991	4.210000	0.58500	0.429000	0.26202	0.486000	0.48141	AAG		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		24	27	0	0	0	1	0	24	27				
SH3GLB2	56904	broad.mit.edu	37	9	131772963	131772963	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:131772963C>A	ENST00000372564.3	-	7	779	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	SH3GLB2_ENST00000417224.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.D191Y|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.D216Y	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	212	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCACTTCATCATTCCAGAGC	0.637																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(634-636)Gat>Tat		SH3-domain GRB2-like endophilin B2							67.0	60.0	63.0					9																	131772963		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131772963C>A	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.634G>T	9.37:g.131772963C>A	ENSP00000361645:p.Asp212Tyr					SH3GLB2_ENST00000417224.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.D216Y|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.D191Y	p.D212Y	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			7	779	-			212			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.634G>T	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891553	0.72524	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.19532	2.21;2.21;2.19;2.22;2.14	5.23	5.23	0.72850	BAR (3);	0.051143	0.85682	D	0.000000	T	0.34019	0.0883	L	0.44542	1.39	0.80722	D	1	D;D	0.61080	0.989;0.984	P;P	0.57620	0.814;0.824	T	0.03773	-1.1005	10	0.72032	D	0.01	-3.2497	15.5195	0.75854	0.0:1.0:0.0:0.0	.	216;212	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	Y	212;212;216;216;212;191	ENSP00000361645:D212Y;ENSP00000361640:D212Y;ENSP00000361634:D216Y;ENSP00000402566:D212Y;ENSP00000388282:D191Y	ENSP00000361634:D216Y	D	-	1	0	SH3GLB2	130812784	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.787000	0.62432	2.441000	0.82636	0.561000	0.74099	GAT		0.637	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			22	16	1	0	4.72057e-08	1	5.16412e-08	22	16				
USP34	9736	broad.mit.edu	37	2	61575227	61575227	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:61575227C>A	ENST00000398571.2	-	15	2139	c.2063G>T	c.(2062-2064)cGa>cTa	p.R688L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	688					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATTCGCATTCGATTATCTAC	0.458																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2062-2064)cGa>cTa		ubiquitin specific peptidase 34							150.0	137.0	141.0					2																	61575227		1967	4145	6112	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575227C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2063G>T	2.37:g.61575227C>A	ENSP00000381577:p.Arg688Leu						p.R688L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2139	-			688					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2063G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254477	0.80135	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.53857	0.6	5.73	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	N	0.24115	0.695	0.50813	D	0.999897	B	0.21520	0.057	B	0.17433	0.018	T	0.13872	-1.0493	10	0.44086	T	0.13	.	12.469	0.55775	0.0:0.8644:0.0:0.1356	.	688	Q70CQ2	UBP34_HUMAN	L	536;536;688	ENSP00000381577:R688L	ENSP00000263989:R536L	R	-	2	0	USP34	61428731	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.385000	0.59613	0.788000	0.33755	-0.142000	0.14014	CGA		0.458	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	144	1	0	1.23904e-05	1	1.31145e-05	5	144				
SH3PXD2A	9644	broad.mit.edu	37	10	105386929	105386929	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:105386929T>A	ENST00000369774.4	-	9	911	c.635A>T	c.(634-636)cAg>cTg	p.Q212L	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.Q74L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q79L|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q212L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q47L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	212	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACCCAGCCCTGCTCCTCAGA	0.612																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(634-636)cAg>cTg		SH3 and PX domains 2A							93.0	80.0	84.0					10																	105386929		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105386929T>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.635A>T	10.37:g.105386929T>A	ENSP00000358789:p.Gln212Leu					SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.Q74L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q79L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q47L|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q212L|SH3PXD2A_ENST00000315994.6_5'UTR	p.Q212L			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	9	911	-		Colorectal(252;0.0815)|Breast(234;0.131)	212			SH3 1.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.635A>T		.	.	.	.	.	.	.	.	.	.	T	23.2	4.388087	0.82902	.	.	ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.33	5.33	0.75918	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.53671	1.685	0.80722	D	1	P;B;B;B;P	0.46142	0.873;0.343;0.235;0.039;0.725	P;B;B;B;P	0.56088	0.791;0.392;0.067;0.049;0.687	T	0.61758	-0.6997	10	0.62326	D	0.03	-24.7757	14.2852	0.66243	0.0:0.0:0.0:1.0	.	212;89;74;85;212	Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.;.	L	74;212;212;47;127;79;47	ENSP00000392664:Q74L;ENSP00000358789:Q212L;ENSP00000348215:Q212L;ENSP00000443663:Q79L;ENSP00000441514:Q47L	ENSP00000318135:Q47L	Q	-	2	0	SH3PXD2A	105376919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.026000	0.59711	0.459000	0.35465	CAG		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	62	0	0	0	1	0	22	62				
ATP4A	495	broad.mit.edu	37	19	36051824	36051824	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:36051824G>T	ENST00000262623.3	-	5	459	c.431C>A	c.(430-432)gCa>gAa	p.A144E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	144					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAGAGCGATTGCCAGGTACAG	0.577																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(430-432)gCa>gAa		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						119.0	102.0	108.0					19																	36051824		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051824G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.431C>A	19.37:g.36051824G>T	ENSP00000262623:p.Ala144Glu						p.A144E	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	459	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		144					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.431C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	16.28	3.079565	0.55753	.	.	ENSG00000105675	ENST00000262623	D	0.90788	-2.73	3.35	3.35	0.38373	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000018	D	0.91277	0.7250	M	0.66939	2.045	0.42677	D	0.993534	P	0.41498	0.752	P	0.48368	0.575	D	0.92348	0.5887	10	0.87932	D	0	.	12.2327	0.54497	0.0:0.0:1.0:0.0	.	144	P20648	ATP4A_HUMAN	E	144	ENSP00000262623:A144E	ENSP00000262623:A144E	A	-	2	0	ATP4A	40743664	0.961000	0.32948	0.892000	0.35008	0.745000	0.42441	1.689000	0.37700	1.693000	0.51124	0.406000	0.27484	GCA		0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		17	85	1	0	0.000566183	1	0.000576799	17	85				
ANKRD30A	91074	broad.mit.edu	37	10	37442528	37442528	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:37442528A>T	ENST00000602533.1	+	13	1667	c.1568A>T	c.(1567-1569)gAt>gTt	p.D523V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D523V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D523V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	579					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACAGAAGGATGTGTGTTTA	0.294																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1567-1569)gAt>gTt		ankyrin repeat domain 30A							131.0	132.0	132.0					10																	37442528		1801	4065	5866	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442528A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1568A>T	10.37:g.37442528A>T	ENSP00000473551:p.Asp523Val					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D523V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D523V	p.D523V			Q9BXX3	AN30A_HUMAN			13	1667	+			579					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1568A>T		.	.	.	.	.	.	.	.	.	.	.	10.37	1.332496	0.24167	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07021	3.23;3.23	1.47	-1.72	0.08107	.	.	.	.	.	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.19647	-1.0299	9	0.59425	D	0.04	.	1.6907	0.02851	0.3596:0.2178:0.0:0.4226	.	579	Q9BXX3	AN30A_HUMAN	V	523	ENSP00000354432:D523V;ENSP00000363792:D523V	ENSP00000354432:D523V	D	+	2	0	ANKRD30A	37482534	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.196000	0.09532	-0.467000	0.06932	0.315000	0.21342	GAT		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		16	226	0	0	0	1	0	16	226				
ZW10	9183	broad.mit.edu	37	11	113608317	113608317	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:113608317T>C	ENST00000200135.3	-	14	2137	c.1993A>G	c.(1993-1995)Att>Gtt	p.I665V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	665					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ATTTTGCCAATGACCTCAGAA	0.428																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1993-1995)Att>Gtt		zw10 kinetochore protein							160.0	147.0	151.0					11																	113608317		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608317T>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1993A>G	11.37:g.113608317T>C	ENSP00000200135:p.Ile665Val						p.I665V	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	2137	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	665					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1993A>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409180	0.25378	.	.	ENSG00000086827	ENST00000200135	T	0.50277	0.75	5.27	5.27	0.74061	.	0.189359	0.53938	D	0.000044	T	0.33440	0.0863	L	0.38175	1.15	0.41197	D	0.986345	B	0.12013	0.005	B	0.12837	0.008	T	0.21827	-1.0234	10	0.27785	T	0.31	-6.1299	5.9015	0.18970	0.1492:0.0847:0.0:0.7661	.	665	O43264	ZW10_HUMAN	V	665	ENSP00000200135:I665V	ENSP00000200135:I665V	I	-	1	0	ZW10	113113527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.133000	0.50531	2.116000	0.64780	0.533000	0.62120	ATT		0.428	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		38	102	0	0	0	1	0	38	102				
HEATR9	256957	broad.mit.edu	37	17	34190056	34190056	+	Silent	SNP	C	C	T	rs555326438		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:34190056C>T	ENST00000311880.2	-	8	847	c.699G>A	c.(697-699)gaG>gaA	p.E233E	C17orf66_ENST00000592980.1_Silent_p.E193E|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		233					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCGTCAAAGTCTCCATCCTTT	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20819	0.0		0.0	False		,,,				2504	0.0					ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(697-699)gaG>gaA		chromosome 17 open reading frame 66							186.0	173.0	178.0					17																	34190056		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34190056C>T																												ENST00000311880.2:c.699G>A	17.37:g.34190056C>T						C17orf66_ENST00000592980.1_Silent_p.E193E	p.E233E	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	8	847	-		Ovarian(249;0.17)	233					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.699G>A	CCDS11299.1																																																																																				0.512	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			15	81	0	0	0	1	0	15	81				
FCAR	2204	broad.mit.edu	37	19	55396782	55396782	+	Missense_Mutation	SNP	G	G	A	rs587641627|rs140716224	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:55396782G>A	ENST00000355524.3	+	3	216	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	FCAR_ENST00000469767.1_Missense_Mutation_p.R69Q|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Missense_Mutation_p.R69Q|FCAR_ENST00000391726.3_Missense_Mutation_p.R57Q|FCAR_ENST00000391724.3_Missense_Mutation_p.R57Q|FCAR_ENST00000391725.3_Missense_Mutation_p.R69Q|FCAR_ENST00000359272.4_Missense_Mutation_p.R57Q|FCAR_ENST00000391723.3_Missense_Mutation_p.R57Q	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	69	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCACGTACCGAGAGATAGGC	0.478																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(205-207)cGa>cAa		Fc fragment of IgA, receptor for		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG	0,4406		0,0,2203	124.0	111.0	116.0		206,206,206,170,170,170,,170,206	-5.3	0.0	19	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,intron,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2,NM_133279.2	43,43,43,43,43,43,,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,,benign,benign	69/288,69/266,69/192,57/276,57/180,57/210,,57/254,69/240	55396782	1,13005	2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396782G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.206G>A	19.37:g.55396782G>A	ENSP00000347714:p.Arg69Gln					FCAR_ENST00000345937.4_Missense_Mutation_p.R69Q|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.R69Q|FCAR_ENST00000469767.1_Missense_Mutation_p.R69Q|FCAR_ENST00000391724.3_Missense_Mutation_p.R57Q|FCAR_ENST00000391726.3_Missense_Mutation_p.R57Q|FCAR_ENST00000359272.4_Missense_Mutation_p.R57Q|FCAR_ENST00000391723.3_Missense_Mutation_p.R57Q|FCAR_ENST00000353758.4_Intron	p.R69Q	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	216	+			69			Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.206G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048727	0.07407	0.0	1.16E-4	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	3.04	-5.3	0.02738	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	7.999500	0.01094	N	0.005251	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.25351	0.027;0.021;0.059;0.041;0.092;0.08;0.041;0.124	B;B;B;B;B;B;B;B	0.17722	0.008;0.003;0.003;0.017;0.019;0.003;0.002;0.002	T	0.24440	-1.0160	10	0.27785	T	0.31	.	2.5265	0.04692	0.2357:0.1602:0.4465:0.1576	.	57;57;57;57;69;69;69;69	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	Q	69;57;69;69;69;57;57;57	ENSP00000375606:R57Q;ENSP00000347714:R69Q;ENSP00000375605:R69Q;ENSP00000338257:R69Q;ENSP00000352218:R57Q;ENSP00000375603:R57Q;ENSP00000375604:R57Q	ENSP00000338257:R69Q	R	+	2	0	FCAR	60088594	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.701000	0.05075	-1.526000	0.01760	-1.494000	0.00967	CGA		0.478	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		38	55	0	0	0	1	0	38	55				
PCDHGA11	56105	broad.mit.edu	37	5	140802964	140802964	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:140802964C>T	ENST00000398587.2	+	1	2203	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATAAGTCACGCCTGCTGCA	0.592																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(2170-2172)Cgc>Tgc									47.0	52.0	51.0					5																	140802964		2202	4300	6502	SO:0001583	missense	56105							g.chr5:140802964C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2170C>T	5.37:g.140802964C>T	ENSP00000381589:p.Arg724Cys					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron	p.R724C	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2203	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.2170C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	13.54	2.269151	0.40095	.	.	ENSG00000253873	ENST00000398587	T	0.15603	2.41	5.2	4.21	0.49690	.	0.482216	0.12245	U	0.486124	T	0.29556	0.0737	M	0.91612	3.225	0.30250	N	0.794204	B;B	0.33135	0.399;0.088	B;B	0.29663	0.049;0.105	T	0.38672	-0.9650	10	0.87932	D	0	.	12.0749	0.53638	0.2154:0.7846:0.0:0.0	.	724;724	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	C	724	ENSP00000381589:R724C	ENSP00000381589:R724C	R	+	1	0	PCDHGA11	140783148	0.023000	0.18921	0.110000	0.21437	0.055000	0.15305	0.329000	0.19698	2.593000	0.87608	0.655000	0.94253	CGC		0.592	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		13	60	0	0	0	1	0	13	60				
ADAM20	8748	broad.mit.edu	37	14	70989667	70989667	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:70989667G>A	ENST00000256389.3	-	2	2202	c.1958C>T	c.(1957-1959)cCt>cTt	p.P653L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	603	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P653H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCAATATCAGGTATAGCCAT	0.458																																						ENST00000256389.3																			1	Substitution - Missense(1)	p.P653H(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1957-1959)cCt>cTt		ADAM metallopeptidase domain 20							246.0	188.0	208.0					14																	70989667		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989667G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1958C>T	14.37:g.70989667G>A	ENSP00000256389:p.Pro653Leu					RP11-486O13.4_ENST00000556646.1_lincRNA	p.P653L	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2202	-			603			EGF-like.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1958C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	8.766	0.924813	0.18056	.	.	ENSG00000134007	ENST00000256389	T	0.21932	1.98	4.67	2.77	0.32553	ADAM, cysteine-rich (2);	0.443540	0.16762	N	0.200576	T	0.23806	0.0576	M	0.67397	2.05	0.30955	N	0.724348	B	0.27498	0.18	B	0.34242	0.178	T	0.25257	-1.0137	10	0.87932	D	0	.	5.535	0.17005	0.1639:0.0:0.6716:0.1645	.	603	O43506	ADA20_HUMAN	L	653	ENSP00000256389:P653L	ENSP00000256389:P653L	P	-	2	0	ADAM20	70059420	0.268000	0.24133	0.835000	0.33067	0.004000	0.04260	0.937000	0.28951	1.056000	0.40484	-0.311000	0.09066	CCT		0.458	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			56	158	0	0	0	1	0	56	158				
ZNF800	168850	broad.mit.edu	37	7	127013761	127013761	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:127013761T>C	ENST00000393313.1	-	5	2220	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Silent_p.K543K|ZNF800_ENST00000393312.1_Silent_p.K543K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GAGATGACTTTTTATGAACCA	0.343																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1627-1629)aaA>aaG		zinc finger protein 800							78.0	77.0	78.0					7																	127013761		2202	4299	6501	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013761T>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1629A>G	7.37:g.127013761T>C						ZNF800_ENST00000393312.1_Silent_p.K543K|ZNF800_ENST00000265827.3_Silent_p.K543K	p.K543K			Q2TB10	ZN800_HUMAN			5	2220	-			543					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.1629A>G	CCDS5795.1																																																																																				0.343	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		21	135	0	0	0	1	0	21	135				
BDKRB2	624	broad.mit.edu	37	14	96706960	96706960	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:96706960C>T	ENST00000306005.3	+	3	491	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	BDKRB2_ENST00000554311.1_Silent_p.L99L|BDKRB2_ENST00000539359.1_Silent_p.L72L|BDKRB2_ENST00000542454.2_Silent_p.L72L|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	99					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CCTGGGGAACCTGGCCGCAGC	0.612																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(214-216)Ctg>Ttg		bradykinin receptor B2							104.0	104.0	104.0					14																	96706960		2203	4300	6503	SO:0001819	synonymous_variant	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706960C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.295C>T	14.37:g.96706960C>T						BDKRB2_ENST00000306005.3_Silent_p.L99L|BDKRB2_ENST00000539359.1_Silent_p.L72L|BDKRB2_ENST00000554311.1_Silent_p.L99L|RP11-404P21.8_ENST00000553811.1_Intron	p.L72L			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3302	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	99						Silent	SNP	ENST00000306005.3	37	c.214C>T	CCDS9942.1																																																																																				0.612	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			23	181	0	0	0	1	0	23	181				
BIRC2	329	broad.mit.edu	37	11	102220696	102220696	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:102220696A>C	ENST00000227758.2	+	2	1510	c.111A>C	c.(109-111)caA>caC	p.Q37H	BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q16H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	37					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCAACAAACAAAAAATGAAGT	0.438																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(109-111)caA>caC		baculoviral IAP repeat containing 2							116.0	115.0	115.0					11																	102220696		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220696A>C	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.111A>C	11.37:g.102220696A>C	ENSP00000227758:p.Gln37His					BIRC2_ENST00000532672.1_Missense_Mutation_p.Q16H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Intron	p.Q37H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1510	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	37					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.111A>C	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	6.752	0.507521	0.12883	.	.	ENSG00000110330	ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T	0.63417	2.05;2.06;-0.04	5.65	-1.1	0.09872	Baculoviral inhibition of apoptosis protein repeat (1);	0.389127	0.32503	N	0.006017	T	0.29524	0.0736	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06338	-1.0832	10	0.15066	T	0.55	-4.3998	1.6006	0.02673	0.2846:0.2547:0.324:0.1366	.	37	Q13490	BIRC2_HUMAN	H	37;37;16;16	ENSP00000227758:Q37H;ENSP00000434979:Q16H;ENSP00000434708:Q16H	ENSP00000227758:Q37H	Q	+	3	2	BIRC2	101725906	0.992000	0.36948	0.957000	0.39632	0.880000	0.50808	-0.017000	0.12590	-0.031000	0.13781	0.533000	0.62120	CAA		0.438	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		1934	103	0	0	0	1	0	1934	103				
ZNF835	90485	broad.mit.edu	37	19	57176533	57176533	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:57176533C>A	ENST00000537055.2	-	2	265	c.34G>T	c.(34-36)Gca>Tca	p.A12S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCAACTCTGCGCCCTGGAGG	0.552																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(34-36)Gca>Tca		zinc finger protein 835							67.0	69.0	68.0					19																	57176533		1980	4152	6132	SO:0001583	missense	90485							g.chr19:57176533C>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.34G>T	19.37:g.57176533C>A	ENSP00000444747:p.Ala12Ser						p.A12S	NM_001005850.2	NP_001005850.2					2	265	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.34G>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772503	0.31411	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06142	3.34	2.82	-5.63	0.02474	.	.	.	.	.	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.46665	-0.9175	9	0.02654	T	1	.	5.8774	0.18836	0.2283:0.5052:0.2666:0.0	.	34	Q9Y2P0	ZN835_HUMAN	S	34;12	ENSP00000444747:A12S	ENSP00000341756:A34S	A	-	1	0	ZNF835	61868345	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.376000	0.07465	-0.986000	0.03498	-0.397000	0.06425	GCA		0.552	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		29	37	1	0	2.70662e-09	1	3.00122e-09	29	37				
ZNF521	25925	broad.mit.edu	37	18	22902018	22902018	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:22902018C>T	ENST00000361524.3	-	3	322	c.174G>A	c.(172-174)tcG>tcA	p.S58S	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S58S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	58					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATCGCTCAGCGATTCAAACA	0.433			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(172-174)tcG>tcA		zinc finger protein 521							143.0	128.0	133.0					18																	22902018		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902018C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.174G>A	18.37:g.22902018C>T						ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S58S	p.S58S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			3	322	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		58					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.174G>A	CCDS32806.1																																																																																				0.433	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	86	0	0	0	1	0	4	86				
XIST	7503	broad.mit.edu	37	X	73061279	73061279	+	lincRNA	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:73061279C>T	ENST00000429829.1	-	0	11309					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGGCAAACTGCTCCCTGAGCT	0.403																																						ENST00000429829.1																			0																				59.0	61.0	60.0					X																	73061279		876	1991	2867			7503							g.chrX:73061279C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061279C>T								NR_001564.2						0	11309	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.403	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		16	36	0	0	0	1	0	16	36				
AHNAK2	113146	broad.mit.edu	37	14	105413127	105413127	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:105413127G>A	ENST00000333244.5	-	7	8780	c.8661C>T	c.(8659-8661)ccC>ccT	p.P2887P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2887						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCTCCCTCGGGAACGTGGC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8659-8661)ccC>ccT		AHNAK nucleoprotein 2							128.0	137.0	134.0					14																	105413127		1896	4101	5997	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413127G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8661C>T	14.37:g.105413127G>A						AHNAK2_ENST00000557457.1_Intron	p.P2887P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8780	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2887					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8661C>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	489	0	0	0	1	0	12	489				
NCOA4	8031	broad.mit.edu	37	10	51584858	51584858	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:51584858T>A	ENST00000443446.1	+	8	1186	c.957T>A	c.(955-957)aaT>aaA	p.N319K	NCOA4_ENST00000438493.1_Missense_Mutation_p.N335K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N319K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N319K|NCOA4_ENST00000452682.1_Missense_Mutation_p.N335K|NCOA4_ENST00000414907.2_Missense_Mutation_p.N153K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N219K|NCOA4_ENST00000374082.1_Missense_Mutation_p.N319K	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	319					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGCCTGAGAATGGCAGTCGTG	0.458			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1003-1005)aaT>aaA		nuclear receptor coactivator 4							87.0	87.0	87.0					10																	51584858		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584858T>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.957T>A	10.37:g.51584858T>A	ENSP00000390713:p.Asn319Lys					NCOA4_ENST00000414907.2_Missense_Mutation_p.N153K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N219K|NCOA4_ENST00000374082.1_Missense_Mutation_p.N319K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N319K|NCOA4_ENST00000443446.1_Missense_Mutation_p.N319K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N319K|NCOA4_ENST00000438493.1_Missense_Mutation_p.N335K	p.N335K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1257	+			319					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.1005T>A	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.558702|1.558702	0.27827|0.27827	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	6.03|6.03	2.48|2.48	0.30137|0.30137	.|.	0.582661|.	0.20139|.	N|.	0.098405|.	T|T	0.45836|0.45836	0.1362|0.1362	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999969|0.999969	P;P;P;B|.	0.47484|.	0.896;0.896;0.896;0.018|.	B;B;B;B|.	0.43838|.	0.433;0.341;0.433;0.025|.	T|T	0.36962|0.36962	-0.9726|-0.9726	9|5	.|.	.|.	.|.	-3.3143|-3.3143	5.3205|5.3205	0.15879|0.15879	0.1263:0.226:0.0:0.6477|0.1263:0.226:0.0:0.6477	.|.	219;335;335;319|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	K|R	335;335;219;319;153;319;319;319|235	ENSP00000405146:N335K;ENSP00000395465:N335K;ENSP00000393053:N219K;ENSP00000363200:N319K;ENSP00000411018:N153K;ENSP00000344552:N319K;ENSP00000363195:N319K;ENSP00000390713:N319K|.	.|.	N|W	+|+	3|1	2|0	NCOA4|NCOA4	51254864|51254864	0.725000|0.725000	0.28048|0.28048	0.048000|0.048000	0.18961|0.18961	0.293000|0.293000	0.27360|0.27360	0.083000|0.083000	0.14871|0.14871	0.514000|0.514000	0.28300|0.28300	0.533000|0.533000	0.62120|0.62120	AAT|TGG		0.458	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		21	101	0	0	0	1	0	21	101				
PPP1R32	220004	broad.mit.edu	37	11	61249854	61249854	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:61249854G>C	ENST00000338608.2	+	3	306	c.181G>C	c.(181-183)Gtc>Ctc	p.V61L	RP11-286N22.8_ENST00000544880.1_Intron|RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V61L	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	61							phosphatase binding (GO:0019902)										CCAGCCCGTGGTCTCATGCCA	0.617											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338608.2																			0											c.(181-183)Gtc>Ctc		protein phosphatase 1, regulatory subunit 32							49.0	54.0	52.0					11																	61249854		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61249854G>C	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.181G>C	11.37:g.61249854G>C	ENSP00000344140:p.Val61Leu		OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	PPP1R32_ENST00000432063.2_Missense_Mutation_p.V61L|RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron	p.V61L	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			3	306	+			61					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.181G>C	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117016	0.56505	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.58210	0.35;0.95	4.89	3.95	0.45737	.	0.107327	0.39020	N	0.001494	T	0.50939	0.1645	M	0.66506	2.035	0.80722	D	1	P;P	0.49559	0.827;0.925	B;B	0.41271	0.269;0.352	T	0.58381	-0.7646	10	0.66056	D	0.02	-15.4167	12.584	0.56406	0.0:0.1678:0.8322:0.0	.	61;61	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	L	61	ENSP00000391560:V61L;ENSP00000344140:V61L	ENSP00000344140:V61L	V	+	1	0	C11orf66	61006430	0.992000	0.36948	0.552000	0.28243	0.369000	0.29798	2.599000	0.46231	1.144000	0.42321	0.655000	0.94253	GTC		0.617	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		7	59	0	0	0	1	0	7	59				
SBF1	6305	broad.mit.edu	37	22	50904500	50904500	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:50904500C>T	ENST00000390679.3	-	9	1085	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SBF1_ENST00000380817.3_Missense_Mutation_p.D301N|SBF1_ENST00000348911.6_Missense_Mutation_p.D302N			O95248	MTMR5_HUMAN	SET binding factor 1	301	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACAATCACATCGAGCTGCGGA	0.607																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(901-903)Gat>Aat		SET binding factor 1							89.0	94.0	93.0					22																	50904500		2164	4272	6436	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904500C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.901G>A	22.37:g.50904500C>T	ENSP00000375097:p.Asp301Asn					SBF1_ENST00000390679.3_Missense_Mutation_p.D301N|SBF1_ENST00000348911.6_Missense_Mutation_p.D302N	p.D301N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	9	1084	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	301			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.901G>A		.	.	.	.	.	.	.	.	.	.	C	18.29	3.592289	0.66219	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.15372	2.43;2.43;2.43	4.27	4.27	0.50696	.	0.200277	0.38837	N	0.001549	T	0.42607	0.1210	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.45614	-0.9249	10	0.87932	D	0	.	15.6312	0.76908	0.0:1.0:0.0:0.0	.	302;301	G5E933;O95248-4	.;.	N	301;302;312;311;301	ENSP00000370196:D301N;ENSP00000252027:D302N;ENSP00000375097:D301N	ENSP00000336522:D311N	D	-	1	0	SBF1	49251366	1.000000	0.71417	0.993000	0.49108	0.009000	0.06853	3.603000	0.54074	2.229000	0.72834	0.455000	0.32223	GAT		0.607	SBF1-201	KNOWN	basic	protein_coding	protein_coding				46	68	0	0	0	1	0	46	68				
EPHA2	1969	broad.mit.edu	37	1	16464515	16464515	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:16464515delC	ENST00000358432.5	-	5	1299	c.1145delG	c.(1144-1146)agtfs	p.S382fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	382	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GTAGCGCACACTGGCCTCACA	0.662																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1144-1146)atfs		EPH receptor A2	Dasatinib(DB01254)						53.0	47.0	49.0					1																	16464515		2203	4300	6503	SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464515delC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1145delG	1.37:g.16464515delC	ENSP00000351209:p.Ser382fs						p.S382fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1299	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	382			Fibronectin type-III 1.		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	c.1145delG	CCDS169.1																																																																																				0.662	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		13	21						13	21	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142712908	142712909	+	lincRNA	INS	-	-	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:142712908_142712909insT	ENST00000610091.1	-	0	2698																											AGAACCAAATGTTTAAATTTTC	0.272																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142712908_142712909insT																													1.37:g.142712911_142712911dupT														0	1645	-									RNA	INS	ENST00000610091.1	37																																																																																						0.272	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC	rs369535331|rs557578751	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(226-228)ggc>GGCggc	p.76_76G>GG		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708														163	0.0325479	0.0045	0.0403	5008	,	,		10259	0.0942		0.006	False		,,,				2504	0.0286					ENST00000306507.5																			1	Substitution - Missense(1)	p.G76C(1)	breast(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(223-228)gagcgg>gaGGCgcgg		forkhead box D4-like 1																																				SO:0001652	inframe_insertion	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257058_114257059insGGC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.232_234dupGGC	2.37:g.114257065_114257067dupGGC	ENSP00000302756:p.Gly78dup						p.75_76ER>EAR	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	398_399	+			75					B3KWN1|B9EGF3	In_Frame_Ins	INS	ENST00000306507.5	37	c.225_226insGGC	CCDS2117.1																																																																																				0.708	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		4	8						4	8	---	---	---	---
LINC01378	103689918	broad.mit.edu	37	4	118497180	118497180	+	lincRNA	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:118497180delC	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							GCCAGCACCACCCCCGCCACC	0.622																																						ENST00000422145.3																			0																																																			103689918							g.chr4:118497180delC																													4.37:g.118497180delC						NT5C3AP1_ENST00000441170.1_RNA								0	159	+									RNA	DEL	ENST00000422145.3	37																																																																																						0.622	AC092661.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000291362.3			8	19						8	19	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	9						5	9	---	---	---	---
FAXDC2	10826	broad.mit.edu	37	5	154200942	154200942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:154200942delG	ENST00000326080.5	-	8	1146	c.723delC	c.(721-723)ggcfs	p.G241fs	FAXDC2_ENST00000523997.1_5'Flank|FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.G218fs	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	241					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										ACAAGTGGGAGCCCATTACTA	0.542																																						ENST00000326080.5																			0											c.(721-723)ggfs		fatty acid hydroxylase domain containing 2							165.0	171.0	169.0					5																	154200942		2094	4215	6309	SO:0001589	frameshift_variant	10826							g.chr5:154200942delG	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.723delC	5.37:g.154200942delG	ENSP00000320604:p.Gly241fs					FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.G218fs	p.G241fs	NM_032385.3	NP_115761.2					8	1146	-								B4DIE1|Q9BSX6|Q9H8C7	Frame_Shift_Del	DEL	ENST00000326080.5	37	c.723delC	CCDS43390.1																																																																																				0.542	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		12	32						12	32	---	---	---	---
FAM86B2	653333	broad.mit.edu	37	8	12285143	12285143	+	Intron	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:12285143delC	ENST00000262365.4	-	7	892				FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Frame_Shift_Del_p.G77fs|FAM86B2_ENST00000351291.4_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2											endometrium(1)|kidney(2)	3						ACCATGTAGGCCCGGGTGGGC	0.617																																						ENST00000393715.3																			0				endometrium(1)|kidney(2)	3						c.(229-231)ggfs		family with sequence similarity 86, member B2																																				SO:0001627	intron_variant	653333							g.chr8:12285143delC		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.892+22G>-	8.37:g.12285143delC						FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000262365.4_Intron	p.G77fs			P0C5J1	F86B2_HUMAN			3	465	-			0						Frame_Shift_Del	DEL	ENST00000262365.4	37	c.231delG	CCDS59092.1																																																																																				0.617	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		15	38						15	38	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116247956	116247957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:116247956_116247957insA	ENST00000374140.2	+	8	881_882	c.672_673insA	c.(673-675)aggfs	p.R225fs	RGS3_ENST00000317613.6_Frame_Shift_Ins_p.R113fs|RGS3_ENST00000350696.5_Frame_Shift_Ins_p.R225fs	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	225	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTGTGGAACAGGGCCAGCCA	0.579																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(670-675)aagggcfs		regulator of G-protein signaling 3																																				SO:0001589	frameshift_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116247956_116247957insA	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.673dupA	9.37:g.116247957_116247957dupA	ENSP00000363255:p.Arg225fs					RGS3_ENST00000317613.6_Frame_Shift_Ins_p.KG112fs|RGS3_ENST00000350696.5_Frame_Shift_Ins_p.KG224fs	p.KG224fs	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			8	881_882	+			224			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Frame_Shift_Ins	INS	ENST00000374140.2	37	c.672_673insA	CCDS43869.1																																																																																				0.579	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		2	4						2	4	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106111063	106111074	+	RNA	DEL	GTGCTCTCGGAG	GTGCTCTCGGAG	-	rs189328740|rs139093355|rs375481192|rs587648672	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:106111063_106111074delGTGCTCTCGGAG	ENST00000390545.2	-	0	53_64							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CAGGGCCGCTGTGCTCTCGGAGGTGCTCCTGG	0.675																																						ENST00000390545.2																			0																																																			3501							g.chr14:106111063_106111074delGTGCTCTCGGAG	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106111063_106111074delGTGCTCTCGGAG														0	53_64	-								A6NE66	RNA	DEL	ENST00000390545.2	37																																																																																						0.675	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		8	71						8	71	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67645338	67645339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:67645338_67645339insA	ENST00000264010.4	+	3	1047_1048	c.603_604insA	c.(604-606)aaafs	p.K202fs	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	202					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(601-606)gcaaaafs		CCCTC-binding factor (zinc finger protein)																																				SO:0001589	frameshift_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645338_67645339insA	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.610dupA	16.37:g.67645345_67645345dupA	ENSP00000264010:p.Lys202fs					CTCF_ENST00000401394.1_Intron	p.AK201fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1047_1048	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	201					B5MC38|Q53XI7|Q59EL8	Frame_Shift_Ins	INS	ENST00000264010.4	37	c.603_604insA	CCDS10841.1																																																																																				0.475	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		31	69						31	69	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT	rs199628152	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:56056586_56056587insTGT	ENST00000581208.1	-	5	1104_1105	c.1064_1065insACA	c.(1063-1065)cat>caACAt	p.354_355insQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.345_346insQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475														309	0.0617013	0.1483	0.0245	5008	,	,		20971	0.005		0.0169	False		,,,				2504	0.0757					ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1036-1038)cgt>cACAgt		vascular endothelial zinc finger 1																																				SO:0001652	inframe_insertion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056586_56056587insTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064dupACA	17.37:g.56056593_56056595dupTGT	ENSP00000462337:p.Gln354_Gln354dup					VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS	p.346_346R>HS			Q14119	VEZF1_HUMAN			5	1125_1126	-			355			Poly-Gln.			In_Frame_Ins	INS	ENST00000581208.1	37	c.1037_1038insACA	CCDS32687.1																																																																																				0.475	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	529						8	529	---	---	---	---
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A	rs200256644		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1				apolipoprotein C-I pseudogene 1																		TGAACAGATTGAAAAAAAAAAC	0.525																																						ENST00000574565.1																			0																																																			342							g.chr19:45431267_45431268insA	M20903		19q13.32	2014-03-18			ENSG00000214855	ENSG00000214855			608	pseudogene	pseudogene							Standard	NR_028412		Approved		uc021uvm.1		OTTHUMG00000177534		19.37:g.45431277_45431277dupA								NR_028412.1						0	402	+									RNA	INS	ENST00000574565.1	37																																																																																						0.525	APOC1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437392.1			2	4						2	4	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	39086937	39086937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:39086937delA	ENST00000609713.1	-	3	1112	c.523delT	c.(523-525)tctfs	p.S175fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.S175fs|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	175					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCAACACAGATTGGATTAAG	0.433																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(523-525)ctfs		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						65.0	65.0	65.0					21																	39086937		1858	4111	5969	SO:0001589	frameshift_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086937delA	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.523delT	21.37:g.39086937delA	ENSP00000477437:p.Ser175fs					KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.S175fs	p.S175fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1112	-			175					Q3MJ74|Q53WW6	Frame_Shift_Del	DEL	ENST00000609713.1	37	c.523delT	CCDS42927.1																																																																																				0.433	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		14	95						14	95	---	---	---	---
