#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
TGFBI	7045	broad.mit.edu	37	5	135382985	135382985	+	Missense_Mutation	SNP	G	G	A	rs373585898		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:135382985G>A	ENST00000442011.2	+	6	808	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	216	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACTGTGCCCGGCTGCTGAAA	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(646-648)cGg>cAg		transforming growth factor, beta-induced, 68kDa							116.0	112.0	113.0					5																	135382985		2073	4216	6289	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382985G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.647G>A	5.37:g.135382985G>A	ENSP00000416330:p.Arg216Gln					TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q	p.R216Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	808	+			216			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.647G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	36	5.907549	0.97093	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91068	-2.78;-2.78	6.04	6.04	0.98038	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94281	0.7520	10	0.62326	D	0.03	-5.3662	20.5792	0.99380	0.0:0.0:1.0:0.0	.	216	Q15582	BGH3_HUMAN	Q	216	ENSP00000416330:R216Q;ENSP00000306306:R216Q	ENSP00000306306:R216Q	R	+	2	0	TGFBI	135410884	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	CGG		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			21	78	0	0	0	1	0	21	78				
ATP5SL	55101	broad.mit.edu	37	19	41939481	41939481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:41939481C>T	ENST00000221943.9	-	4	399	c.394G>A	c.(394-396)Ggt>Agt	p.G132S	ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	132						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TCACAGTCACCGGCATCCACA	0.537																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(394-396)Ggt>Agt		ATP5S-like							196.0	181.0	186.0					19																	41939481		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41939481C>T	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.394G>A	19.37:g.41939481C>T	ENSP00000221943:p.Gly132Ser					ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S	p.G132S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			4	399	-			132					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.394G>A	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	T	0.374	-0.932566	0.02359	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.73897	-0.79;2.51;-0.79;2.34	3.8	3.8	0.43715	.	0.000000	0.85682	N	0.000000	T	0.20210	0.0486	N	0.00005	-3.29	0.19775	N	0.999958	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.0;0.003;0.003	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.0;0.002;0.002	T	0.48917	-0.8992	10	0.02654	T	1	-10.8946	8.5114	0.33220	0.0:0.0969:0.0:0.9031	.	111;138;105;132;105;132;138	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	S	132;105;138;138;208	ENSP00000221943:G132S;ENSP00000397413:G105S;ENSP00000403910:G138S;ENSP00000301183:G138S	ENSP00000221943:G132S	G	-	1	0	ATP5SL	46631321	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	1.626000	0.37039	0.630000	0.30394	-0.521000	0.04368	GGT		0.537	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		44	114	0	0	0	1	0	44	114				
PTPRC	5788	broad.mit.edu	37	1	198678866	198678866	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:198678866G>A	ENST00000367376.2	+	11	1249	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	360					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E360K(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTGAACCCGAACATGAGTA	0.279																																						ENST00000367376.2																			1	Substitution - Missense(1)	p.E360K(1)	large_intestine(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1078-1080)Gaa>Aaa		protein tyrosine phosphatase, receptor type, C							55.0	66.0	62.0					1																	198678866		2195	4271	6466	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198678866G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1078G>A	1.37:g.198678866G>A	ENSP00000356346:p.Glu360Lys					PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K	p.E360K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			11	1249	+			360					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1078G>A		.	.	.	.	.	.	.	.	.	.	G	1.015	-0.686746	0.03328	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T;T	0.11604	4.31;4.32;2.76;4.32;3.78;4.32	4.48	-8.97	0.00758	.	1.933800	0.02480	N	0.088376	T	0.05914	0.0154	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.19935	0.04;0.024;0.002;0.002;0.003	B;B;B;B;B	0.09377	0.004;0.002;0.001;0.001;0.001	T	0.30475	-0.9977	10	0.07175	T	0.84	.	11.9291	0.52837	0.1448:0.318:0.5371:0.0	.	296;296;201;312;360	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	K	362;296;312;312;246;360;294;199	ENSP00000356346:E362K;ENSP00000193532:E312K;ENSP00000433536:E246K;ENSP00000411355:E360K;ENSP00000356337:E294K;ENSP00000306782:E199K	ENSP00000306782:E199K	E	+	1	0	PTPRC	196945489	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.639000	0.00407	-2.675000	0.00411	-0.964000	0.02622	GAA		0.279	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	121	0	0	0	1	0	4	121				
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19416	0.0		0.003	False		,,,				2504	0.0					ENST00000297056.6																			1	Substitution - Missense(1)	p.R646W(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1936-1938)Cgg>Tgg		diacylglycerol lipase, beta		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118.0	112.0	114.0		1549,1936	-0.9	0.2	7	dbSNP_134	114	4,8596		0,4,4296	yes	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	517/544,646/673	6449551	4,13002	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449551G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1936C>T	7.37:g.6449551G>A	ENSP00000297056:p.Arg646Trp					DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W	p.R646W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2105	-		Ovarian(82;0.232)	646					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1936C>T	CCDS5350.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.79	2.936977	0.52972	0.0	4.65E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.37584	1.19;1.19;1.19	5.79	-0.949	0.10376	.	0.310453	0.33005	N	0.005381	T	0.56688	0.2002	M	0.73598	2.24	0.24550	N	0.994027	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;P;P;P	0.66847	0.947;0.739;0.65;0.798	T	0.61202	-0.7110	10	0.62326	D	0.03	-22.8734	17.4647	0.87629	0.0:0.0:0.6315:0.3685	.	517;460;646;343	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	W	646;517;605	ENSP00000297056:R646W;ENSP00000391171:R517W;ENSP00000404785:R605W	ENSP00000297056:R646W	R	-	1	2	DAGLB	6416076	0.141000	0.22595	0.240000	0.24138	0.416000	0.31233	1.347000	0.33975	-0.397000	0.07691	-0.271000	0.10264	CGG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		4	117	0	0	0	1	0	4	117				
DYNC1LI2	1783	broad.mit.edu	37	16	66770010	66770010	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_ENST00000440564.2_Silent_p.L184L|RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	223					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(667-669)Ctg>Ttg		dynein, cytoplasmic 1, light intermediate chain 2							140.0	125.0	130.0					16																	66770010		2200	4300	6500	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770010G>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.667C>T	16.37:g.66770010G>A						DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.L146L	p.L223L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	873	-		Ovarian(137;0.0563)	223					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.667C>T	CCDS10818.1																																																																																				0.552	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		4	50	0	0	0	1	0	4	50				
KMT2B	9757	broad.mit.edu	37	19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:36213342G>A	ENST00000222270.7	+	4	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	847					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTCTGAAGATGAGTCGGTGGA	0.637																																						ENST00000420124.1																			0											c.(2539-2541)Gag>Aag									45.0	49.0	48.0					19																	36213342		1944	4129	6073	SO:0001583	missense	0							g.chr19:36213342G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2539G>A	19.37:g.36213342G>A	ENSP00000222270:p.Glu847Lys					WBP7_ENST00000222270.7_Missense_Mutation_p.E847K|KMT2B_ENST00000607650.1_RNA	p.E847K							4	2539	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2539G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491526	0.26774	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82433	-1.61;-1.61	5.92	4.83	0.62350	.	0.000000	0.41294	D	0.000909	T	0.74680	0.3748	L	0.36672	1.1	0.34303	D	0.684586	P	0.43094	0.799	B	0.38378	0.272	T	0.83113	-0.0122	10	0.56958	D	0.05	.	12.2498	0.54591	0.0:0.1704:0.8296:0.0	.	847	Q9UMN6	MLL4_HUMAN	K	847	ENSP00000222270:E847K;ENSP00000398837:E847K	ENSP00000222270:E847K	E	+	1	0	AD000671.1	40905182	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.235000	0.58666	2.804000	0.96469	0.655000	0.94253	GAG		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	18	0	0	0	1	0	6	18				
NUDT13	25961	broad.mit.edu	37	10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:74881976A>C	ENST00000357321.4	+	4	385	c.267A>C	c.(265-267)agA>agC	p.R89S	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGCACAAAGAATAGAAGATT	0.433																																						ENST00000357321.4																			0				large_intestine(2)|lung(5)	7						c.(265-267)agA>agC		nudix (nucleoside diphosphate linked moiety X)-type motif 13							167.0	161.0	163.0					10																	74881976		2203	4300	6503	SO:0001583	missense	25961						hydrolase activity|metal ion binding	g.chr10:74881976A>C	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.267A>C	10.37:g.74881976A>C	ENSP00000349874:p.Arg89Ser					NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S	p.R89S	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN			4	385	+	Prostate(51;0.0119)		89						Missense_Mutation	SNP	ENST00000357321.4	37	c.267A>C	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607006	0.46527	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.28069	1.63;1.63;1.63	6.08	2.52	0.30459	NADH pyrophosphatase-like, N-terminal (1);	0.489485	0.25001	N	0.033906	T	0.23014	0.0556	L	0.54323	1.7	0.09310	N	0.999998	B;B;B	0.27140	0.169;0.082;0.033	B;B;B	0.24155	0.051;0.035;0.012	T	0.17653	-1.0362	10	0.11794	T	0.64	.	8.2288	0.31587	0.7402:0.0:0.2598:0.0	.	89;89;89	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	S	89	ENSP00000349874:R89S;ENSP00000335326:R89S;ENSP00000362088:R89S	ENSP00000335326:R89S	R	+	3	2	NUDT13	74551982	0.972000	0.33761	0.187000	0.23214	0.985000	0.73830	0.453000	0.21811	1.084000	0.41184	0.533000	0.62120	AGA		0.433	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		5	129	0	0	0	1	0	5	129				
TRIM67	440730	broad.mit.edu	37	1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:231337222A>C	ENST00000366653.5	+	5	1493	c.1493A>C	c.(1492-1494)cAg>cCg	p.Q498P	TRIM67_ENST00000444294.3_Missense_Mutation_p.Q498P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	498	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGCTGCTGCAGGCCATCCAC	0.572																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1492-1494)cAg>cCg		tripartite motif containing 67							38.0	43.0	41.0					1																	231337222		2031	4204	6235	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337222A>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1493A>C	1.37:g.231337222A>C	ENSP00000355613:p.Gln498Pro					TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P	p.Q498P	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			5	2351	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	498			COS.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1493A>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398234	0.83120	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71222	-0.55;-0.45;-0.48;-0.55	5.41	3.0	0.34707	COS domain (1);	0.056519	0.64402	N	0.000001	T	0.75079	0.3801	L	0.60455	1.87	0.58432	D	0.999993	D	0.64830	0.994	P	0.58331	0.837	T	0.72792	-0.4186	10	0.56958	D	0.05	.	8.5796	0.33621	0.735:0.1357:0.0:0.1293	.	498	Q6ZTA4	TRI67_HUMAN	P	498;498;436;498	ENSP00000412124:Q498P;ENSP00000355612:Q498P;ENSP00000400163:Q436P;ENSP00000355613:Q498P	ENSP00000355612:Q498P	Q	+	2	0	TRIM67	229403845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.262000	0.72514	0.313000	0.23062	0.454000	0.30748	CAG		0.572	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	19	0	0	0	1	0	5	19				
FRMPD1	22844	broad.mit.edu	37	9	37746501	37746501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:37746501G>A	ENST00000539465.1	+	16	5065	c.4472G>A	c.(4471-4473)cGt>cAt	p.R1491H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1491						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGGCCGTGCGTGACACCTTC	0.657																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4471-4473)cGt>cAt		FERM and PDZ domain containing 1							33.0	35.0	34.0					9																	37746501		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746501G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4472G>A	9.37:g.37746501G>A	ENSP00000444411:p.Arg1491His					FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H|RP11-613M10.9_ENST00000540557.1_Intron	p.R1491H			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5065	+			1491					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4472G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710947	0.48517	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07800	3.16;3.16	5.53	3.45	0.39498	.	0.354800	0.28365	N	0.015610	T	0.05868	0.0153	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.27400	-1.0075	10	0.62326	D	0.03	-4.424	3.7683	0.08632	0.2428:0.2013:0.5559:0.0	.	1491	Q5SYB0	FRPD1_HUMAN	H	1491	ENSP00000366995:R1491H;ENSP00000444411:R1491H	ENSP00000366995:R1491H	R	+	2	0	FRMPD1	37736501	0.917000	0.31117	0.540000	0.28089	0.932000	0.56968	2.072000	0.41510	1.337000	0.45525	0.655000	0.94253	CGT		0.657	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	30	0	0	0	1	0	6	30				
BSX	390259	broad.mit.edu	37	11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:122848488C>A	ENST00000343035.2	-	3	619	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCTGAACCGCGGGGGCTG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(571-573)Ggt>Tgt		brain-specific homeobox							26.0	30.0	29.0					11																	122848488		1855	4084	5939	SO:0001583	missense	390259							g.chr11:122848488C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.571G>T	11.37:g.122848488C>A	ENSP00000344285:p.Gly191Cys						p.G191C	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	619	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191						Missense_Mutation	SNP	ENST00000343035.2	37	c.571G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277746	0.40294	.	.	ENSG00000188909	ENST00000343035	D	0.94232	-3.38	5.4	3.48	0.39840	.	0.491488	0.21033	N	0.081315	D	0.86397	0.5923	N	0.14661	0.345	0.32002	N	0.603285	B	0.33612	0.419	B	0.34779	0.189	D	0.87421	0.2382	10	0.59425	D	0.04	.	11.2053	0.48765	0.0:0.8031:0.1269:0.07	.	191	Q3C1V8	BSH_HUMAN	C	191	ENSP00000344285:G191C	ENSP00000344285:G191C	G	-	1	0	BSX	122353698	0.985000	0.35326	0.126000	0.21872	0.302000	0.27658	2.095000	0.41729	1.243000	0.43853	0.561000	0.74099	GGT		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		10	25	1	0	4.68919e-08	1	4.9497e-08	10	25				
LILRB5	10990	broad.mit.edu	37	19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54760375T>A	ENST00000316219.5	-	3	439	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000450632.1_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	Ig-like C2-type 1.|Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCCAGGGGGTCACTGGGCTC	0.622																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(331-333)gAc>gTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							99.0	100.0	100.0					19																	54760375		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760375T>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.332A>T	19.37:g.54760375T>A	ENSP00000320390:p.Asp111Val					LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V|LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V	p.D111V			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	409	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		111			Ig-like C2-type 1.|Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.332A>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	T	9.486	1.099372	0.20552	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	3.29	2.23	0.28157	Immunoglobulin-like fold (1);	0.339090	0.25310	N	0.031587	T	0.40222	0.1108	M	0.93420	3.415	0.26939	N	0.966293	D;D;D;D;P	0.64830	0.991;0.981;0.976;0.994;0.671	D;D;D;D;P	0.71870	0.968;0.966;0.975;0.957;0.569	T	0.28267	-1.0049	10	0.87932	D	0	.	5.535	0.17005	0.0:0.1365:0.0:0.8635	.	111;102;111;111;111	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	111	ENSP00000320390:D111V;ENSP00000414225:D111V;ENSP00000406478:D111V;ENSP00000263430:D111V	ENSP00000320390:D111V	D	-	2	0	LILRB5	59452187	0.789000	0.28775	0.035000	0.18076	0.034000	0.12701	1.875000	0.39578	0.440000	0.26502	0.477000	0.44152	GAC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			32	93	0	0	0	1	0	32	93				
DPP10	57628	broad.mit.edu	37	2	116066820	116066820	+	Silent	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066820G>T	ENST00000410059.1	+	2	546	c.66G>T	c.(64-66)ctG>ctT	p.L22L	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000393147.2_Silent_p.L26L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	22	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAGGAACTGGGAAGTAACA	0.393																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(64-66)ctG>ctT		dipeptidyl-peptidase 10 (non-functional)							165.0	152.0	157.0					2																	116066820		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066820G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.66G>T	2.37:g.116066820G>T						DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.L15L	p.L22L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	546	+			22			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.66G>T	CCDS46400.1																																																																																				0.393	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		14	32	1	0	7.93312e-07	1	8.2216e-07	14	32				
COL11A2	1302	broad.mit.edu	37	6	33132638	33132638	+	Silent	SNP	G	G	A	rs151319255	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:33132638G>A	ENST00000374708.4	-	62	4854	c.4596C>T	c.(4594-4596)gaC>gaT	p.D1532D	COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000357486.1_Silent_p.D1597D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000341947.2_Silent_p.D1618D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000374713.1_Silent_p.D1571D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1618					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D1618D(1)|p.D1618E(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTGCGTGACGTCATCCCTAG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		14507	0.0		0.0	False		,,,				2504	0.002				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D1618D(1)|p.D1618E(1)	ovary(1)|prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4852-4854)gaC>gaT		collagen, type XI, alpha 2							62.0	55.0	57.0					6																	33132638		2201	4291	6492	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132638G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4596C>T	6.37:g.33132638G>A						COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000374708.4_Silent_p.D1532D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000374713.1_Silent_p.D1571D|COL11A2_ENST00000357486.1_Silent_p.D1597D	p.D1618D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			64	5081	-			1618			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4854C>T	CCDS43452.1																																																																																				0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	9	0	0	0	1	0	3	9				
ADAMTSL1	92949	broad.mit.edu	37	9	18504838	18504838	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGGACCGCACGCTCCG	0.577																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(73-75)acC>acT		ADAMTS-like 1							70.0	76.0	74.0					9																	18504838		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504838C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.75C>T	9.37:g.18504838C>T						ADAMTSL1_ENST00000380570.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000327883.7_Silent_p.T25T	p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	414	+			25					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.75C>T	CCDS47954.1																																																																																				0.577	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			5	81	0	0	0	1	0	5	81				
ITFG1	81533	broad.mit.edu	37	16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000323584.5_5'Flank|ITFG1_ENST00000544001.2_5'UTR|PHKB_ENST00000455779.1_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	89						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATACCTTTACTTTGGGTTT	0.274																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(265-267)gTa>gCa		integrin alpha FG-GAP repeat containing 1							51.0	58.0	56.0					16																	47493029		2201	4295	6496	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47493029A>G	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.266T>C	16.37:g.47493029A>G	ENSP00000319918:p.Val89Ala					ITFG1_ENST00000544001.2_5'UTR	p.V89A	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			2	494	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	89					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.266T>C	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988529	0.53934	.	.	ENSG00000129636	ENST00000320640	T	0.22336	1.96	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000002	T	0.16557	0.0398	L	0.43152	1.355	0.80722	D	1	B	0.33637	0.42	B	0.30782	0.12	T	0.02868	-1.1100	10	0.07813	T	0.8	-7.97	14.1568	0.65422	1.0:0.0:0.0:0.0	.	89	Q8TB96	TIP_HUMAN	A	89	ENSP00000319918:V89A	ENSP00000319918:V89A	V	-	2	0	ITFG1	46050530	1.000000	0.71417	0.988000	0.46212	0.552000	0.35366	7.208000	0.77907	1.932000	0.55993	0.533000	0.62120	GTA		0.274	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		14	57	0	0	0	1	0	14	57				
QRICH1	54870	broad.mit.edu	37	3	49065748	49065748	+	IGR	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:49065748C>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.G86D	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCAATACCGCCTGTAAGCTA	0.493																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(256-258)gGc>gAc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						85.0	79.0	81.0					3																	49065748		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065748C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065748C>T							p.G86D	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	296	-			86					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.257G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	37	6.633421	0.97722	.	.	ENSG00000178035	ENST00000537036;ENST00000326739	D	0.83673	-1.75	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96045	0.9027	10	0.87932	D	0	-19.8807	20.6634	0.99662	0.0:1.0:0.0:0.0	.	86	P12268	IMDH2_HUMAN	D	86	ENSP00000321584:G86D	ENSP00000321584:G86D	G	-	2	0	IMPDH2	49040752	1.000000	0.71417	0.884000	0.34674	0.721000	0.41392	7.710000	0.84655	2.894000	0.99253	0.655000	0.94253	GGC		0.493	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		8	61	0	0	0	1	0	8	61				
SASS6	163786	broad.mit.edu	37	1	100572509	100572509	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:100572509T>A	ENST00000287482.5	-	12	1507	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.K289I	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	456					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTCTTCAAGTTTTTTAACTGT	0.249																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1366-1368)aAa>aTa		spindle assembly 6 homolog (C. elegans)							69.0	69.0	69.0					1																	100572509		2190	4294	6484	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100572509T>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1367A>T	1.37:g.100572509T>A	ENSP00000287482:p.Lys456Ile					SASS6_ENST00000535161.1_Missense_Mutation_p.K289I|SASS6_ENST00000462159.1_5'UTR	p.K456I	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	12	1507	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	456					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1367A>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833803	0.91036	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.33216	1.42;1.42	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.79926	2.475	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.58418	-0.7640	10	0.72032	D	0.01	-26.6718	16.2348	0.82365	0.0:0.0:0.0:1.0	.	456	Q6UVJ0	SAS6_HUMAN	I	456;429;289	ENSP00000287482:K456I;ENSP00000440169:K289I	ENSP00000287482:K456I	K	-	2	0	SASS6	100345097	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.596000	0.74113	2.229000	0.72834	0.477000	0.44152	AAA		0.249	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		8	30	0	0	0	1	0	8	30				
LMOD2	442721	broad.mit.edu	37	7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:123302800C>A	ENST00000458573.2	+	2	1317	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	387	Pro-rich.					cytoskeleton (GO:0005856)											ACACCTAGCTCTTCACCTTAT	0.512																																						ENST00000458573.2																			0											c.(1159-1161)tCt>tAt		leiomodin 2 (cardiac)							113.0	111.0	112.0					7																	123302800		1981	4161	6142	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302800C>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1160C>A	7.37:g.123302800C>A	ENSP00000411932:p.Ser387Tyr					LMOD2_ENST00000456238.2_Intron	p.S387Y	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1317	+			387			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1160C>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028677	0.75390	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.92348	-3.02	5.11	5.11	0.69529	.	.	.	.	.	D	0.94768	0.8311	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	D	0.94955	0.8103	9	0.62326	D	0.03	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	387	Q6P5Q4	LMOD2_HUMAN	Y	387;347;358	ENSP00000411932:S387Y	ENSP00000405123:S358Y	S	+	2	0	LMOD2	123090036	0.999000	0.42202	0.994000	0.49952	0.816000	0.46133	4.643000	0.61390	2.539000	0.85634	0.313000	0.20887	TCT		0.512	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			31	79	1	0	5.60225e-13	1	6.14093e-13	31	79				
MOV10	4343	broad.mit.edu	37	1	113235477	113235477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:113235477C>T	ENST00000413052.2	+	7	1456	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.R300W|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	356					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)		GCATGATATCCGGCACTATGA	0.602																																						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.(898-900)Cgg>Tgg		Mov10, Moloney leukemia virus 10, homolog (mouse)							52.0	44.0	47.0					1																	113235477		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.chr1:113235477C>T	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.1066C>T	1.37:g.113235477C>T	ENSP00000399797:p.Arg356Trp					MOV10_ENST00000413052.2_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W	p.R300W			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)	8	1927	+	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)	356					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.898C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807823	0.90623	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92965	-3.14;-3.14;-3.12;-3.14	6.06	5.1	0.69264	.	0.207319	0.49916	D	0.000140	D	0.94555	0.8246	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.96;0.995	D	0.94565	0.7766	10	0.87932	D	0	-18.0026	15.8333	0.78778	0.1365:0.8635:0.0:0.0	.	300;356;356	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	W	356;356;356;300;356;294	ENSP00000399797:R356W;ENSP00000358659:R356W;ENSP00000358658:R300W;ENSP00000350028:R356W	ENSP00000285733:R356W	R	+	1	2	MOV10	113037000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.288000	0.51739	2.882000	0.98803	0.655000	0.94253	CGG		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		6	14	0	0	0	1	0	6	14				
BBS4	585	broad.mit.edu	37	15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	95					adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACATGTGCAGTTCTTAGTCCT	0.433									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(283-285)gTt>gAt		Bardet-Biedl syndrome 4							133.0	127.0	129.0					15																	73007695		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73007695T>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.284T>A	15.37:g.73007695T>A	ENSP00000268057:p.Val95Asp					BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	p.V95D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			5	325	+			95					B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.284T>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498195	0.44455	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.62364	0.03;0.03;0.03	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.298002	0.37715	N	0.001976	T	0.53642	0.1809	L	0.44542	1.39	0.80722	D	1	B;P;B	0.35208	0.016;0.49;0.02	B;B;B	0.36289	0.088;0.221;0.032	T	0.50285	-0.8846	10	0.15066	T	0.55	-1.947	14.3512	0.66702	0.0:0.0:0.0:1.0	.	83;103;95	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	D	95;83;103	ENSP00000268057:V95D;ENSP00000442492:V83D;ENSP00000378631:V103D	ENSP00000268057:V95D	V	+	2	0	BBS4	70794748	1.000000	0.71417	0.959000	0.39883	0.707000	0.40811	7.043000	0.76572	2.045000	0.60652	0.460000	0.39030	GTT		0.433	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		16	33	0	0	0	1	0	16	33				
COL11A1	1301	broad.mit.edu	37	1	103471673	103471673	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:103471673C>T	ENST00000370096.3	-	17	2054	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R593H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	581	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCACCTGGACGACCCTAATA	0.373																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1777-1779)cGt>cAt		collagen, type XI, alpha 1							65.0	64.0	64.0					1																	103471673		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471673C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1742G>A	1.37:g.103471673C>T	ENSP00000359114:p.Arg581His					COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.R581H	p.R593H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	17	2095	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	581			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1778G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526726	0.85706	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93659	-3.26;-3.24;-3.24;-3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.95509	0.8584	10	0.66056	D	0.02	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	465;542;593;581	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	H	581;593;542;465	ENSP00000359114:R581H;ENSP00000351163:R593H;ENSP00000302551:R542H;ENSP00000426533:R465H	ENSP00000302551:R542H	R	-	2	0	COL11A1	103244261	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.336000	0.79245	2.656000	0.90262	0.655000	0.94253	CGT		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	65	0	0	0	1	0	7	65				
NAV2	89797	broad.mit.edu	37	11	20078087	20078087	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:20078087A>G	ENST00000396087.3	+	21	5011	c.4912A>G	c.(4912-4914)Aaa>Gaa	p.K1638E	NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000540292.1_Missense_Mutation_p.K1569E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1638	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATCATGGGAGAAAAGTTCTGT	0.383																																						ENST00000540292.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4705-4707)Aaa>Gaa		neuron navigator 2							140.0	133.0	135.0					11																	20078087		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20078087A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4912A>G	11.37:g.20078087A>G	ENSP00000379396:p.Lys1638Glu					NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000311043.8_Intron	p.K1569E			Q8IVL1	NAV2_HUMAN			22	4705	+			1638			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4705A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852148	0.32699	.	.	ENSG00000166833	ENST00000396087;ENST00000527559;ENST00000540292	T;T;T	0.27402	1.78;1.68;1.67	3.8	-3.56	0.04626	.	1.646800	0.03547	N	0.224782	T	0.18551	0.0445	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.15263	-1.0443	6	.	.	.	.	5.6419	0.17569	0.297:0.0:0.53:0.1729	.	.	.	.	E	1638;1567;1569	ENSP00000379396:K1638E;ENSP00000435395:K1567E;ENSP00000443489:K1569E	.	K	+	1	0	NAV2	20034663	0.017000	0.18338	0.000000	0.03702	0.732000	0.41865	0.170000	0.16663	-0.722000	0.04922	0.260000	0.18958	AAA		0.383	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	49	0	0	0	1	0	15	49				
RFX3	5991	broad.mit.edu	37	9	3293175	3293175	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:3293175G>A	ENST00000382004.3	-	7	944	c.633C>T	c.(631-633)caC>caT	p.H211H	RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	211					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTCCTGACAGTGTCGAAGGT	0.463																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(631-633)caC>caT		regulatory factor X, 3 (influences HLA class II expression)							134.0	120.0	125.0					9																	3293175		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3293175G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.633C>T	9.37:g.3293175G>A						RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	p.H211H	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	7	944	-			211					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.633C>T	CCDS6449.1																																																																																				0.463	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		5	80	0	0	0	1	0	5	80				
PSG4	5672	broad.mit.edu	37	19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:43698504C>T	ENST00000405312.3	-	5	1468	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	411					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGACTTTGACTGTGATGGAT	0.453																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1231-1233)Gtc>Atc		pregnancy specific beta-1-glycoprotein 4							228.0	224.0	225.0					19																	43698504		2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698504C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1231G>A	19.37:g.43698504C>T	ENSP00000384770:p.Val411Ile					PSG4_ENST00000433626.2_Missense_Mutation_p.V318I|PSG4_ENST00000244295.9_Missense_Mutation_p.V318I	p.V411I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1468	-		Prostate(69;0.00682)	411					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1231G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	3.407	-0.120978	0.06838	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.15017	2.46;2.46;2.46	1.18	-1.7	0.08159	Immunoglobulin-like fold (1);	.	.	.	.	T	0.14527	0.0351	N	0.21508	0.67	0.09310	N	1	B;B;B	0.30114	0.269;0.003;0.06	P;B;B	0.49708	0.62;0.058;0.152	T	0.45293	-0.9271	9	0.02654	T	1	.	4.3548	0.11172	0.0:0.5608:0.0:0.4392	.	318;318;411	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	318;411;318	ENSP00000244295:V318I;ENSP00000384770:V411I;ENSP00000387864:V318I	ENSP00000244295:V318I	V	-	1	0	PSG4	48390344	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.158000	0.01281	-0.300000	0.08895	-0.550000	0.04213	GTC		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		76	210	0	0	0	1	0	76	210				
ZBTB21	49854	broad.mit.edu	37	21	43412284	43412284	+	Missense_Mutation	SNP	G	G	A	rs368176716		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr21:43412284G>A	ENST00000310826.5	-	3	2104	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	641					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGCTTGCCGCGCCTTAACTTA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.001					ENST00000310826.5																			0											c.(1921-1923)Cgc>Tgc		zinc finger and BTB domain containing 21		G	CYS/ARG,CYS/ARG,	2,4404	4.2+/-10.8	0,2,2201	65.0	64.0	64.0		1921,1921,	5.4	1.0	21		64	0,8600		0,0,4300	no	missense,missense,intron	ZNF295	NM_001098402.1,NM_020727.4,NM_001098403.1	180,180,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,	641/1067,641/1067,	43412284	2,13004	2203	4300	6503	SO:0001583	missense	49854							g.chr21:43412284G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1921C>T	21.37:g.43412284G>A	ENSP00000308759:p.Arg641Cys					ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron	p.R641C	NM_001098402.1	NP_001091872.1					3	2104	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.1921C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708846	0.68615	4.54E-4	0.0	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.09538	2.97;2.97;2.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02632	-1.1131	10	0.59425	D	0.04	-18.697	19.2587	0.93959	0.0:0.0:1.0:0.0	.	641	Q9ULJ3	ZN295_HUMAN	C	641	ENSP00000308759:R641C;ENSP00000381512:R641C;ENSP00000381523:R641C	ENSP00000308759:R641C	R	-	1	0	ZNF295	42285353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.760000	0.74939	2.560000	0.86352	0.591000	0.81541	CGC		0.433	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		4	104	0	0	0	1	0	4	104				
VCX	26609	broad.mit.edu	37	X	7811726	7811726	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:7811726A>G	ENST00000381059.3	+	3	509	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VCX_ENST00000341408.4_Missense_Mutation_p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	97	Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGTGAGCGAGGGGACCCAG	0.697																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(289-291)gAg>gGg		variable charge, X-linked							42.0	54.0	50.0					X																	7811726		2119	4063	6182	SO:0001583	missense	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811726A>G	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.290A>G	X.37:g.7811726A>G	ENSP00000370447:p.Glu97Gly					VCX_ENST00000341408.4_Missense_Mutation_p.E97G	p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			3	509	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	97			Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	c.290A>G	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	7.238	0.600711	0.13939	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.30448	1.53;1.53	.	.	.	.	.	.	.	.	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	0.999996	B	0.19817	0.039	B	0.09377	0.004	T	0.21586	-1.0241	7	0.44086	T	0.13	.	.	.	.	.	97	Q9H320	VCX1_HUMAN	G	97	ENSP00000370447:E97G;ENSP00000344144:E97G	ENSP00000344144:E97G	E	+	2	0	VCX	7771726	0.974000	0.33945	0.091000	0.20842	0.092000	0.18411	1.232000	0.32636	0.138000	0.18790	0.137000	0.15966	GAG		0.697	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		4	79	0	0	0	1	0	4	79				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR380_ENST00000362112.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR758_ENST00000390227.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		4	205	0	0	0	1	0	4	205				
PRPF31	26121	broad.mit.edu	37	19	54627954	54627954	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54627954G>A	ENST00000321030.4	+	8	1123	c.774G>A	c.(772-774)acG>acA	p.T258T	PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.T258T|PRPF31_ENST00000391755.1_Silent_p.T258T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	258	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCGCAAGACGCTGTCGGGCT	0.652																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(772-774)acG>acA		pre-mRNA processing factor 31							82.0	70.0	74.0					19																	54627954		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627954G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.774G>A	19.37:g.54627954G>A						PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.T258T|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.T258T	p.T258T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			8	1123	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		258			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.774G>A	CCDS12879.1																																																																																				0.652	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			14	34	0	0	0	1	0	14	34				
MAN2C1	4123	broad.mit.edu	37	15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	rs140277288		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:75651127C>T	ENST00000267978.5	-	19	2210	c.2164G>A	c.(2164-2166)Gtg>Atg	p.V722M	MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V739M	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	722					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGTTCCCCACGGCGCCCTCA	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20675	0.0		0.0	False		,,,				2504	0.0					ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2215-2217)Gtg>Atg		mannosidase, alpha, class 2C, member 1		C	MET/VAL	6,4388	12.9+/-30.5	0,6,2191	110.0	76.0	88.0		2164	1.5	0.6	15	dbSNP_134	88	0,8588		0,0,4294	yes	missense	MAN2C1	NM_006715.2	21	0,6,6485	TT,TC,CC		0.0,0.1365,0.0462	benign	722/1041	75651127	6,12976	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75651127C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2164G>A	15.37:g.75651127C>T	ENSP00000267978:p.Val722Met					MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M	p.V739M	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			19	2226	-			722					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2215G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426085	0.25726	0.001365	0.0	ENSG00000140400	ENST00000267978	T	0.18338	2.22	5.72	1.45	0.22620	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.879792	0.10190	N	0.704731	T	0.11452	0.0279	L	0.42245	1.32	0.09310	N	1	P;P	0.42941	0.794;0.643	B;B	0.37198	0.243;0.243	T	0.21109	-1.0255	10	0.34782	T	0.22	-7.1219	2.4186	0.04442	0.2438:0.3718:0.2853:0.0991	.	722;722	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	M	722	ENSP00000267978:V722M	ENSP00000267978:V722M	V	-	1	0	MAN2C1	73438180	0.004000	0.15560	0.587000	0.28692	0.805000	0.45488	1.083000	0.30815	0.765000	0.33221	0.561000	0.74099	GTG		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			3	41	0	0	0	1	0	3	41				
GLYATL2	219970	broad.mit.edu	37	11	58604621	58604621	+	Silent	SNP	T	T	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000532258.1_Silent_p.R115R|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	115						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACCTTTCTTATTGCTTCA	0.398																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(343-345)Aga>Cga		glycine-N-acyltransferase-like 2	Glycine(DB00145)						171.0	151.0	157.0					11																	58604621		1868	4100	5968	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604621T>G	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.343A>C	11.37:g.58604621T>G						GLYATL2_ENST00000532258.1_Silent_p.R115R|GLYATL2_ENST00000533636.1_5'UTR	p.R115R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			5	733	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	115					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.343A>C	CCDS41649.1																																																																																				0.398	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		42	86	0	0	0	1	0	42	86				
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:51629378C>T	ENST00000250360.3	+	3	808	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_ENST00000440804.3_Silent_p.D247D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(739-741)gaC>gaT		sialic acid binding Ig-like lectin 9							103.0	91.0	95.0					19																	51629378		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629378C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.741C>T	19.37:g.51629378C>T						SIGLEC9_ENST00000250360.3_Silent_p.D247D	p.D247D	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	808	+		all_neural(266;0.0529)	247			Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.741C>T	CCDS12825.1																																																																																				0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		15	67	0	0	0	1	0	15	67				
PACSIN1	29993	broad.mit.edu	37	6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	374					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCAGTGAGACCAACGGGGGC	0.627																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1120-1122)aCc>aAc		protein kinase C and casein kinase substrate in neurons 1							93.0	99.0	97.0					6																	34499460		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34499460C>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1121C>A	6.37:g.34499460C>A	ENSP00000439639:p.Thr374Asn					PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N	p.T374N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1366	+			374					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1121C>A	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101301	0.56183	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.22743	1.94;1.94;1.94	4.94	4.07	0.47477	.	0.302472	0.36101	N	0.002789	T	0.06371	0.0164	L	0.29908	0.895	0.33764	D	0.62221	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.18710	T	0.47	-16.1111	14.4315	0.67254	0.1485:0.8515:0.0:0.0	.	374	Q9BY11	PACN1_HUMAN	N	374;332;374;374	ENSP00000244458:T374N;ENSP00000363155:T332N;ENSP00000439639:T374N	ENSP00000244458:T374N	T	+	2	0	PACSIN1	34607438	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	5.666000	0.68059	1.304000	0.44892	0.561000	0.74099	ACC		0.627	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			13	148	1	0	9.05144e-12	1	9.73457e-12	13	148				
TTLL12	23170	broad.mit.edu	37	22	43576901	43576901	+	Silent	SNP	C	C	T	rs372715406		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr22:43576901C>T	ENST00000216129.6	-	3	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	131					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGCTGGCGCGCGTGCTCCA	0.667																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(391-393)gcG>gcA		tubulin tyrosine ligase-like family, member 12		C		0,4406		0,0,2203	49.0	44.0	45.0		393	-3.2	0.8	22		45	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TTLL12	NM_015140.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		131/645	43576901	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576901C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.393G>A	22.37:g.43576901C>T							p.A131A	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	456	-		Ovarian(80;0.221)|Glioma(61;0.222)	131					Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.393G>A	CCDS14047.1																																																																																				0.667	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		4	69	0	0	0	1	0	4	69				
LIMD1	8994	broad.mit.edu	37	3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	388					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCACCAGTCTTGTCCATCC	0.612																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1162-1164)Ctt>Ttt		LIM domains containing 1							79.0	75.0	76.0					3																	45637533		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637533C>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1162C>T	3.37:g.45637533C>T	ENSP00000273317:p.Leu388Phe					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1183	+			388					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1162C>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928162	0.34002	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58358	0.34;0.54	4.73	2.85	0.33270	.	2.357600	0.01347	N	0.011773	T	0.35128	0.0921	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24693	-1.0153	10	0.09590	T	0.72	.	3.8765	0.09059	0.1748:0.5784:0.1575:0.0894	.	388	Q9UGP4	LIMD1_HUMAN	F	388	ENSP00000394537:L388F;ENSP00000273317:L388F	ENSP00000273317:L388F	L	+	1	0	LIMD1	45612537	0.001000	0.12720	0.277000	0.24703	0.993000	0.82548	1.006000	0.29847	0.915000	0.36847	0.655000	0.94253	CTT		0.612	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		14	20	0	0	0	1	0	14	20				
PPP2R5E	5529	broad.mit.edu	37	14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	3					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTTGGTGCTGAGGACATATCC	0.418																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(7-9)Tca>Cca		protein phosphatase 2, regulatory subunit B', epsilon isoform							88.0	80.0	83.0					14																	64006397		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006397A>G	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.7T>C	14.37:g.64006397A>G	ENSP00000337641:p.Ser3Pro					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	p.S3P	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	609	-			3					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.7T>C	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515611	0.64634	.	.	ENSG00000154001	ENST00000337537;ENST00000555899	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.29792	-1.0000	9	0.62326	D	0.03	-6.2538	15.5325	0.75974	1.0:0.0:0.0:0.0	.	3;3;3	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	P	3	.	ENSP00000337641:S3P	S	-	1	0	PPP2R5E	63076150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.703000	0.91344	2.053000	0.61076	0.528000	0.53228	TCA		0.418	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		14	48	0	0	0	1	0	14	48				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	79	0	0	0	1	0	4	79				
SLC52A2	79581	broad.mit.edu	37	8	145583708	145583708	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr8:145583708G>A	ENST00000532887.1	+	3	1139	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	186					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CCCCCCGCTCGACTTCCTTGA	0.672																																						ENST00000532887.1																			0											c.(556-558)Gac>Aac		solute carrier family 52 (riboflavin transporter), member 2							47.0	51.0	50.0					8																	145583708		2203	4297	6500	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583708G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.556G>A	8.37:g.145583708G>A	ENSP00000436768:p.Asp186Asn					SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N	p.D186N			Q9HAB3	RFT3_HUMAN			3	1139	+			186					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.556G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136548	0.06711	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.59	4.34	-8.69	0.00855	.	0.536026	0.19910	N	0.103309	T	0.41558	0.1164	N	0.13043	0.29	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33752	-0.9856	9	.	.	.	.	1.6204	0.02712	0.1341:0.1507:0.3575:0.3578	.	186	Q9HAB3	RFT3_HUMAN	N	186;186;186;186;186;98	ENSP00000435820:D186N;ENSP00000434728:D186N;ENSP00000385961:D186N;ENSP00000436768:D186N;ENSP00000333638:D186N;ENSP00000440400:D98N	.	D	+	1	0	GPR172A	145554516	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.236000	0.09003	-4.026000	0.00080	-0.448000	0.05591	GAC		0.672	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		5	77	0	0	0	1	0	5	77				
STRBP	55342	broad.mit.edu	37	9	125936108	125936108	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:125936108G>A	ENST00000348403.5	-	5	667	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	STRBP_ENST00000447404.2_Missense_Mutation_p.R80W|STRBP_ENST00000360998.3_Missense_Mutation_p.R66W	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	80	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACAATGTCCGACCACCTTGA	0.393																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(238-240)Cgg>Tgg		spermatid perinuclear RNA binding protein							175.0	162.0	167.0					9																	125936108		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125936108G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.238C>T	9.37:g.125936108G>A	ENSP00000321347:p.Arg80Trp					STRBP_ENST00000360998.3_Missense_Mutation_p.R66W|STRBP_ENST00000348403.5_Missense_Mutation_p.R80W	p.R80W			Q96SI9	STRBP_HUMAN			4	542	-			80					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.238C>T	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988050	0.74589	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.31247	1.72;1.72;1.5	5.64	4.74	0.60224	.	0.122937	0.56097	D	0.000032	T	0.53948	0.1828	M	0.81341	2.54	0.51767	D	0.999932	D	0.69078	0.997	P	0.61132	0.884	T	0.60110	-0.7327	10	0.87932	D	0	-6.728	14.9641	0.71176	0.0696:0.0:0.9304:0.0	.	80	Q96SI9	STRBP_HUMAN	W	80;80;66	ENSP00000415968:R80W;ENSP00000321347:R80W;ENSP00000354271:R66W	ENSP00000321347:R80W	R	-	1	2	STRBP	124975929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.963000	0.49184	2.673000	0.90976	0.591000	0.81541	CGG		0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			28	67	0	0	0	1	0	28	67				
TWISTNB	221830	broad.mit.edu	37	7	19738113	19738113	+	Silent	SNP	C	C	T	rs561305387	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:19738113C>T	ENST00000222567.5	-	4	913	c.843G>A	c.(841-843)aaG>aaA	p.K281K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGTGCTTTTTCTTCTTCTTCT	0.433																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-843)aaG>aaA		TWIST neighbor							237.0	261.0	253.0					7																	19738113		2203	4300	6503	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738113C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843G>A	7.37:g.19738113C>T							p.K281K	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913	-			281			Lys-rich.		A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.843G>A	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			12	486	0	0	0	1	0	12	486				
BAHCC1	57597	broad.mit.edu	37	17	79409111	79409111	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr17:79409111G>A	ENST00000307745.7	+	9	736	c.736G>A	c.(736-738)Ggc>Agc	p.G246S																								GGAGGACGGTGGCAAGGAGCG	0.721																																						ENST00000307745.7																			0											c.(736-738)Ggc>Agc									9.0	13.0	12.0					17																	79409111		2066	4149	6215	SO:0001583	missense	0							g.chr17:79409111G>A																												ENST00000307745.7:c.736G>A	17.37:g.79409111G>A	ENSP00000303486:p.Gly246Ser						p.G246S							9	736	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	g	8.918	0.960449	0.18583	.	.	ENSG00000171282	ENST00000307745	T	0.10192	2.9	4.39	2.34	0.29019	.	.	.	.	.	T	0.06735	0.0172	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.44221	-0.9342	9	0.09338	T	0.73	.	8.3909	0.32528	0.2695:0.0:0.7305:0.0	.	246	Q9P281	BAHC1_HUMAN	S	246	ENSP00000303486:G246S	ENSP00000303486:G246S	G	+	1	0	AC110285.1	77023706	0.000000	0.05858	0.022000	0.16811	0.591000	0.36615	0.303000	0.19210	0.405000	0.25532	0.298000	0.19748	GGC		0.721	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	14	0	0	0	1	0	3	14				
DPP10	57628	broad.mit.edu	37	2	116066821	116066821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066821G>T	ENST00000410059.1	+	2	547	c.67G>T	c.(67-69)Gga>Tga	p.G23*	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	23	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAGGAACTGGGAAGTAACAG	0.393																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(67-69)Gga>Tga		dipeptidyl-peptidase 10 (non-functional)							169.0	155.0	160.0					2																	116066821		2203	4300	6503	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066821G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.67G>T	2.37:g.116066821G>T	ENSP00000386565:p.Gly23*					DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*	p.G23*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	547	+			23			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.67G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	40	8.510064	0.98843	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	.	.	.	5.6	5.6	0.85130	.	0.067792	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.7656	18.602	0.91250	0.0:0.0:1.0:0.0	.	.	.	.	X	23;19;27;16	.	ENSP00000309066:G16X	G	+	1	0	DPP10	115783291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.238000	0.95380	2.643000	0.89663	0.655000	0.94253	GGA		0.393	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		15	32	1	0	1.3612e-06	1	1.38551e-06	15	32				
CLCA4	22802	broad.mit.edu	37	1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:87045673A>G	ENST00000370563.3	+	14	2447	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	802					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATCTAAGAGACAGTTTTGAT	0.343																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2404-2406)gAc>gGc		chloride channel accessory 4							53.0	48.0	49.0					1																	87045673		1845	4089	5934	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045673A>G	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2405A>G	1.37:g.87045673A>G	ENSP00000359594:p.Asp802Gly					RP4-651E10.4_ENST00000456587.1_RNA	p.D802G	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	14	2447	+		Lung NSC(277;0.238)	802					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.2405A>G	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060267	0.55432	.	.	ENSG00000016602	ENST00000370563	T	0.03441	3.93	5.82	5.82	0.92795	.	0.192264	0.45606	D	0.000357	T	0.11623	0.0283	M	0.86502	2.82	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.72075	0.976;0.957	T	0.00686	-1.1610	10	0.72032	D	0.01	-19.433	8.306	0.32042	0.8517:0.0:0.1483:0.0	.	354;802	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	G	802	ENSP00000359594:D802G	ENSP00000359594:D802G	D	+	2	0	CLCA4	86818261	0.977000	0.34250	0.986000	0.45419	0.688000	0.40055	4.587000	0.60991	2.225000	0.72522	0.477000	0.44152	GAC		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		5	51	0	0	0	1	0	5	51				
LMAN2L	81562	broad.mit.edu	37	2	97377673	97377673	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:97377673G>A	ENST00000264963.4	-	5	619	c.597C>T	c.(595-597)ggC>ggT	p.G199G	LMAN2L_ENST00000537039.1_Silent_p.G61G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000426463.2_Silent_p.G65G|LMAN2L_ENST00000534882.1_Silent_p.G54G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	199	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGCTGTGCAGCCTCCCAGCT	0.557																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(595-597)ggC>ggT		lectin, mannose-binding 2-like							92.0	75.0	81.0					2																	97377673		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97377673G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.597C>T	2.37:g.97377673G>A						LMAN2L_ENST00000534882.1_Silent_p.G54G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000426463.2_Silent_p.G65G|LMAN2L_ENST00000537039.1_Silent_p.G61G	p.G199G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			5	619	-			199			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.597C>T	CCDS2023.1																																																																																				0.557	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		11	46	0	0	0	1	0	11	46				
DNAH7	56171	broad.mit.edu	37	2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9121-9123)Gaa>Aaa		dynein, axonemal, heavy chain 7							124.0	114.0	117.0					2																	196689149		1822	4079	5901	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689149C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9121G>A	2.37:g.196689149C>T	ENSP00000311273:p.Glu3041Lys						p.E3041K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			49	9221	-			3041			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9121G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473197	0.63737	.	.	ENSG00000118997	ENST00000312428	T	0.31247	1.5	4.97	4.97	0.65823	.	0.053821	0.64402	D	0.000001	T	0.73353	0.3576	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.85034	0.0919	10	0.87932	D	0	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	3041	Q8WXX0	DYH7_HUMAN	K	3041	ENSP00000311273:E3041K	ENSP00000311273:E3041K	E	-	1	0	DNAH7	196397394	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	7.475000	0.81041	2.740000	0.93945	0.650000	0.86243	GAA		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	64	0	0	0	1	0	6	64				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478																																						ENST00000427229.2																			0																																																			0							g.chr10:45652235C>G																													10.37:g.45652235C>G														0	1749	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.478	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			3	20	0	0	0	1	0	3	20				
HOXA9	3205	broad.mit.edu	37	7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	166					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGTTTTTCTCTATCAACTGGA	0.537			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(496-498)Aga>Tga		homeobox A9							59.0	63.0	62.0					7																	27204581		2203	4300	6503	SO:0001587	stop_gained	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204581T>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.496A>T	7.37:g.27204581T>A	ENSP00000343619:p.Arg166*					RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_Intron	p.R166*	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	568	-			166					O43369|O43429|Q99820	Nonsense_Mutation	SNP	ENST00000343483.6	37	c.496A>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	T	37	6.517563	0.97629	.	.	ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000242050;ENST00000470747	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7243	0.57162	0.0:0.0:0.1371:0.8629	.	.	.	.	X	166;157;6	.	ENSP00000242050:R157X	R	-	1	2	RP1-170O19.20;HOXA9	27171106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.928000	0.40104	2.242000	0.73789	0.459000	0.35465	AGA		0.537	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			9	50	0	0	0	1	0	9	50				
ACBD5	91452	broad.mit.edu	37	10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:27499985T>C	ENST00000375888.1	-	9	1053	c.989A>G	c.(988-990)aAt>aGt	p.N330S	ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.N321S			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	330					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAATGGTCCATTGTTGGACGT	0.363																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(961-963)aAt>aGt		acyl-CoA binding domain containing 5							85.0	81.0	82.0					10																	27499985		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27499985T>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.989A>G	10.37:g.27499985T>C	ENSP00000365049:p.Asn330Ser					ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000476758.1_5'UTR	p.N321S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			9	1088	-			330					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.962A>G		.	.	.	.	.	.	.	.	.	.	T	2.517	-0.311610	0.05422	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.30448	2.53;2.27;1.53;1.56;2.53	5.5	-6.54	0.01860	.	0.979395	0.08373	N	0.955839	T	0.21718	0.0523	L	0.54323	1.7	0.18873	N	0.999982	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.39078	-0.9631	10	0.10902	T	0.67	-3.2722	9.4304	0.38606	0.0:0.4571:0.1073:0.4355	.	321;144;319;330	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	S	327;321;286;212;144;330	ENSP00000379568:N321S;ENSP00000365070:N286S;ENSP00000365066:N212S;ENSP00000365062:N144S;ENSP00000365049:N330S	ENSP00000365049:N330S	N	-	2	0	ACBD5	27539991	0.043000	0.20138	0.328000	0.25416	0.099000	0.18886	-1.424000	0.02448	-1.287000	0.02381	-1.144000	0.01866	AAT		0.363	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		13	88	0	0	0	1	0	13	88				
L1CAM	3897	broad.mit.edu	37	X	153137810	153137810	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGGAACCTGTGGGCGGA	0.647																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e5-1		L1 cell adhesion molecule							59.0	51.0	54.0					X																	153137810		2203	4300	6503	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137810C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.198-1G>A	X.37:g.153137810C>T						L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site		NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			5	387	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37		CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164597	0.78339	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.868	0.79080	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	L1CAM	152791004	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.985000	0.76193	2.259000	0.74868	0.529000	0.55759	.		0.647	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Intron	7	9	0	0	0	1	0	7	9				
ABCB4	5244	broad.mit.edu	37	7	87060768	87060768	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:87060768G>T	ENST00000265723.4	-	15	1956	c.1845C>A	c.(1843-1845)agC>agA	p.S615R	ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R|ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCATCAGTTCGCTGTGGCTTC	0.458																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1843-1845)agC>agA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							212.0	181.0	192.0					7																	87060768		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060768G>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1845C>A	7.37:g.87060768G>T	ENSP00000265723:p.Ser615Arg					ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R|ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R	p.S615R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			15	1956	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		615			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1845C>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461176	0.26248	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.49	-11.0	0.00169	ABC transporter-like (1);	0.531719	0.23575	N	0.046714	T	0.29458	0.0734	N	0.17474	0.49	0.23787	N	0.996844	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.004	T	0.05683	-1.0870	10	0.45353	T	0.12	-0.6039	2.3868	0.04367	0.4702:0.0847:0.2663:0.1788	.	615;615;615	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	615	ENSP00000352135:S615R;ENSP00000351172:S615R;ENSP00000265723:S615R;ENSP00000392983:S615R;ENSP00000437465:S615R	ENSP00000265723:S615R	S	-	3	2	ABCB4	86898704	0.000000	0.05858	0.265000	0.24526	0.672000	0.39443	-0.274000	0.08537	-2.795000	0.00354	-0.952000	0.02654	AGC		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		42	75	1	0	1.15183e-24	1	1.28734e-24	42	75				
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			3	5						3	5	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:156186353delG	ENST00000435422.3	+	8	1309	c.822delG	c.(820-822)cagfs	p.Q274fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	274					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTGTCTCAGGCAGGAGCTG	0.502																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(820-822)cafs		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							134.0	128.0	130.0					5																	156186353		1968	4165	6133	SO:0001589	frameshift_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186353delG	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.822delG	5.37:g.156186353delG	ENSP00000403003:p.Gln274fs					SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	p.Q274fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1309	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	274					A8K9S9|Q53XA5|Q99644	Frame_Shift_Del	DEL	ENST00000435422.3	37	c.822delG	CCDS47327.1																																																																																				0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			9	157						9	157	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		10	556						10	556	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:49445273_49445274delCT	ENST00000301067.7	-	10	2191_2192	c.2192_2193delAG	c.(2191-2193)gagfs	p.E731fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	731	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGAGTTGCGGCTCCTCAGGTAG	0.688																																						ENST00000301067.7																			0											c.(2191-2193)gfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445273_49445274delCT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2192_2193delAG	12.37:g.49445273_49445274delCT	ENSP00000301067:p.Glu731fs						p.E731fs	NM_003482.3	NP_003473.3					10	2191_2192	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.2192_2193delAG	CCDS44873.1																																																																																				0.688	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	59						28	59	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433																																						ENST00000429810.2																			0																																																			0							g.chr16:74372914delG																													16.37:g.74372914delG														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.433	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:128631828_128631829insT	ENST00000371122.4	-	11	1626_1627	c.1497_1498insA	c.(1495-1500)aaagaafs	p.E500fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	500	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCACCCTGTTCTTTGAGTTTGG	0.312																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1495-1500)aaaacafs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1																																				SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128631828_128631829insT	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1498dupA	X.37:g.128631831_128631831dupT	ENSP00000360163:p.Glu500fs					SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T500fs|SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T500fs	p.T500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			11	1626_1627	-			500			Helicase C-terminal.		Q5JV41|Q5JV42	Frame_Shift_Ins	INS	ENST00000371122.4	37	c.1497_1498insA	CCDS14612.1																																																																																				0.312	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		28	18						28	18	---	---	---	---
