#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AHDC1	27245	broad.mit.edu	37	1	27876046	27876046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:27876046G>A	ENST00000247087.5	-	5	3177	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	AHDC1_ENST00000374011.2_Missense_Mutation_p.R861C			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	861							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACTCTGGGCGAGAGGCTGAG	0.652																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(2581-2583)CGC>TGC		AT hook, DNA binding motif, containing 1							39.0	44.0	42.0					1																	27876046		2203	4299	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27876046G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2581C>T	1.37:g.27876046G>A	ENSP00000247087:p.Arg861Cys					AHDC1_uc009vsz.1_Missense_Mutation_p.R861C	p.R861C	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3550	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	861					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2581C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622955	0.66901	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.64260	-0.09;-0.09	5.77	4.83	0.62350	.	0.218753	0.32093	N	0.006598	T	0.66177	0.2763	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.74674	0.984	T	0.69339	-0.5171	10	0.87932	D	0	-12.4591	13.0361	0.58873	0.0:0.0:0.7163:0.2837	.	861	Q5TGY3	AHDC1_HUMAN	C	861	ENSP00000247087:R861C;ENSP00000363123:R861C	ENSP00000247087:R861C	R	-	1	0	AHDC1	27748633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.762000	0.55250	2.723000	0.93209	0.655000	0.94253	CGC		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	53	0	0	0	0	5	53				
ZBTB8A	653121	broad.mit.edu	37	1	33065901	33065901	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33065901G>A	ENST00000373510.4	+	5	1436	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Missense_Mutation_p.H62Y|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GCACTTGAGTGAAGATGAGAA	0.423																																						uc001bvn.2		NA																	0					0						c.(1207-1209)GAA>AAA		zinc finger and BTB domain containing 8A							144.0	129.0	134.0					1																	33065901		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065901G>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1207G>A	1.37:g.33065901G>A	ENSP00000362609:p.Glu403Lys					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_RNA	p.E403K	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			5	1692	+			403					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.1207G>A	CCDS30664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.12|17.12	3.309443|3.309443	0.60414|0.60414	.|.	.|.	ENSG00000160062|ENSG00000176261	ENST00000373510|ENST00000341885	T|.	0.13657|.	2.57|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.250721|.	0.37393|.	U|.	0.002110|.	T|T	0.58264|0.58264	0.2110|0.2110	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P|.	0.39665|.	0.682|.	B|.	0.32864|.	0.154|.	T|T	0.62402|0.62402	-0.6862|-0.6862	10|6	0.07813|0.87932	T|D	0.8|0	-18.4529|-18.4529	18.9769|18.9769	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	403|.	Q96BR9|.	ZBT8A_HUMAN|.	K|Y	403|62	ENSP00000362609:E403K|.	ENSP00000362609:E403K|ENSP00000343760:H62Y	E|H	+|-	1|1	0|0	ZBTB8A|ZBTB8OS	32838488|32838488	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.978000|0.978000	0.69477|0.69477	6.470000|6.470000	0.73558|0.73558	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GAA|CAC		0.423	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		4	36	0	0	0	0	4	36				
AZIN2	113451	broad.mit.edu	37	1	33583621	33583621	+	Missense_Mutation	SNP	T	T	G	rs199536379		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33583621T>G	ENST00000294517.6	+	11	1735	c.1148T>G	c.(1147-1149)gTc>gGc	p.V383G	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.V403G|ADC_ENST00000373441.1_Missense_Mutation_p.V403G|ADC_ENST00000373443.3_Missense_Mutation_p.V383G	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		383					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GACTGGCTGGTCTTTGACAAC	0.637																																						uc001bwr.2		NA																	0				ovary(2)	2						c.(1147-1149)GTC>GGC		ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						69.0	77.0	74.0					1																	33583621		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583621T>G																												ENST00000294517.6:c.1148T>G	1.37:g.33583621T>G	ENSP00000294517:p.Val383Gly					ADC_uc001bws.2_Missense_Mutation_p.V383G|ADC_uc009vue.2_Missense_Mutation_p.V383G|ADC_uc001bwt.1_Missense_Mutation_p.V288G|ADC_uc001bwu.2_Missense_Mutation_p.V288G|ADC_uc001bwv.2_Missense_Mutation_p.V288G|ADC_uc001bww.2_Missense_Mutation_p.V288G|ADC_uc001bwx.1_Missense_Mutation_p.V360G|ADC_uc009vug.2_Missense_Mutation_p.V403G	p.V383G	NM_052998	NP_443724	Q96A70	ADC_HUMAN			11	1735	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	383					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1148T>G	CCDS375.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374465	0.61735	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.92	3.78	0.43462	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.311695	0.25138	N	0.032847	T	0.45975	0.1369	M	0.63208	1.945	0.80722	D	1	P;P;P	0.45827	0.867;0.669;0.521	B;B;B	0.43103	0.408;0.343;0.343	T	0.52808	-0.8526	10	0.87932	D	0	-27.3612	9.3807	0.38311	0.0:0.087:0.0:0.913	.	403;288;383	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	G	383;383;403;403	ENSP00000294517:V383G;ENSP00000362542:V383G;ENSP00000381233:V403G;ENSP00000362540:V403G	ENSP00000294517:V383G	V	+	2	0	ADC	33356208	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.869000	0.63028	1.971000	0.57363	0.491000	0.48974	GTC		0.637	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			5	57	0	0	0	0	5	57				
AGO3	192669	broad.mit.edu	37	1	36479255	36479255	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:36479255G>C	ENST00000373191.4	+	10	1523	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	AGO3_ENST00000246314.6_Missense_Mutation_p.D158H|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	392					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTATGAAACAGATCCATTTGT	0.393																																						uc001bzp.2		NA																	0					0						c.(1174-1176)GAT>CAT		eukaryotic translation initiation factor 2C, 3							101.0	106.0	104.0					1																	36479255		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36479255G>C	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1174G>C	1.37:g.36479255G>C	ENSP00000362287:p.Asp392His					EIF2C3_uc001bzq.2_Missense_Mutation_p.D158H	p.D392H	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			10	1430	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	392					B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1174G>C	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219048	0.79464	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05855	3.38;3.38	5.14	5.14	0.70334	.	0.046571	0.85682	D	0.000000	T	0.24084	0.0583	H	0.94964	3.605	0.80722	D	1	B	0.25772	0.134	B	0.35039	0.194	T	0.18681	-1.0329	10	0.72032	D	0.01	0.3393	18.6735	0.91519	0.0:0.0:1.0:0.0	.	392	Q9H9G7	AGO3_HUMAN	H	392;158	ENSP00000362287:D392H;ENSP00000246314:D158H	ENSP00000246314:D158H	D	+	1	0	EIF2C3	36251842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.413000	0.81919	0.650000	0.86243	GAT		0.393	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		7	90	0	0	0	0	7	90				
LEPR	3953	broad.mit.edu	37	1	66067602	66067602	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:66067602C>T	ENST00000349533.6	+	10	1547	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Silent_p.I454I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Silent_p.I454I|LEPR_ENST00000371058.1_Silent_p.I454I|LEPR_ENST00000371059.3_Silent_p.I454I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGTACAATCCAGTCACTTG	0.328																																						uc001dci.2		NA																	0				skin(1)	1						c.(1360-1362)ATC>ATT		leptin receptor isoform 1							145.0	153.0	150.0					1																	66067602		2203	4300	6503	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067602C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1362C>T	1.37:g.66067602C>T						LEPR_uc001dcg.2_Silent_p.I454I|LEPR_uc001dch.2_Silent_p.I454I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.I454I|LEPR_uc001dck.2_Silent_p.I454I	p.I454I	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	10	1564	+			454			Extracellular (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.1362C>T	CCDS631.1																																																																																				0.328	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		11	74	0	0	0	0	11	74				
S100A7	6278	broad.mit.edu	37	1	153431379	153431379	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:153431379C>T	ENST00000368723.3	-	2	221	c.111G>A	c.(109-111)aaG>aaA	p.K37K	S100A7_ENST00000368722.1_Silent_p.K37K	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTCTCCTTCATCATCG	0.473																																						uc001fbv.1		NA																	0				skin(1)	1						c.(109-111)AAG>AAA		S100 calcium binding protein A7							232.0	199.0	210.0					1																	153431379		2203	4300	6503	SO:0001819	synonymous_variant	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431379C>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.111G>A	1.37:g.153431379C>T							p.K37K	NM_002963	NP_002954	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	182	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		37			EF-hand 1.		Q5SY67|Q6FGE3|Q9H1E2	Silent	SNP	ENST00000368723.3	37	c.111G>A	CCDS1039.1																																																																																				0.473	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		10	90	0	0	0	0	10	90				
MROH9	80133	broad.mit.edu	37	1	170952646	170952646	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:170952646T>G	ENST00000367758.3	+	9	799	c.700T>G	c.(700-702)Ttt>Gtt	p.F234V	MROH9_ENST00000367759.4_Missense_Mutation_p.F234V	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	234																	ACCCAAGGAGTTTCAACAAGA	0.358																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(700-702)TTT>GTT		hypothetical protein LOC80133 isoform 2							83.0	75.0	78.0					1																	170952646		1810	4079	5889	SO:0001583	missense	80133						binding	g.chr1:170952646T>G	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.700T>G	1.37:g.170952646T>G	ENSP00000356732:p.Phe234Val					C1orf129_uc009wvy.2_Missense_Mutation_p.F41V|C1orf129_uc010plz.1_Missense_Mutation_p.F234V	p.F234V	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			9	830	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		234					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.700T>G	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	8.579	0.881784	0.17467	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.15487	4.0;2.42	4.12	0.0788	0.14413	.	1.186470	0.06566	N	0.747607	T	0.03011	0.0089	N	0.25647	0.755	0.09310	N	1	B;B	0.30146	0.27;0.27	B;B	0.22386	0.039;0.039	T	0.43261	-0.9402	10	0.39692	T	0.17	-0.0191	3.2871	0.06935	0.4914:0.1143:0.0:0.3944	.	234;234	F5GWX6;Q5TGP6	.;CA129_HUMAN	V	234	ENSP00000356733:F234V;ENSP00000356732:F234V	ENSP00000356732:F234V	F	+	1	0	C1orf129	169219270	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.599000	0.24089	0.134000	0.18681	-0.333000	0.08304	TTT		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		6	21	0	0	0	0	6	21				
CFH	3075	broad.mit.edu	37	1	196712601	196712601	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:196712601G>A	ENST00000367429.4	+	20	3393	c.3153G>A	c.(3151-3153)ccG>ccA	p.P1051P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1051	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGTGAATCCGCCCACAGTAC	0.368																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(3151-3153)CCG>CCA		complement factor H isoform a precursor							140.0	134.0	136.0					1																	196712601		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196712601G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3153G>A	1.37:g.196712601G>A							p.P1051P	NM_000186	NP_000177	P08603	CFAH_HUMAN			20	3393	+			1051			Sushi 18.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3153G>A	CCDS1385.1																																																																																				0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		7	52	0	0	0	0	7	52				
TRIM67	440730	broad.mit.edu	37	1	231344791	231344791	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:231344791G>T	ENST00000366653.5	+	8	1918	c.1918G>T	c.(1918-1920)Gtg>Ttg	p.V640L	TRIM67_ENST00000449018.3_Missense_Mutation_p.V578L|TRIM67_ENST00000366652.2_Missense_Mutation_p.V640L|TRIM67_ENST00000444294.3_Missense_Mutation_p.V638L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	640	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)				CGACCGGGTGGTGCTGGGCAC	0.612																																						uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1918-1920)GTG>TTG		tripartite motif-containing 67							86.0	96.0	93.0					1																	231344791		2179	4286	6465	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344791G>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1918G>T	1.37:g.231344791G>T	ENSP00000355613:p.Val640Leu						p.V640L	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			8	1960	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	640			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1918G>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516204	0.96402	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.84442	0.5473	M	0.72118	2.19	0.80722	D	1	P	0.37276	0.589	B	0.38056	0.264	D	0.84345	0.0529	10	0.51188	T	0.08	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	640	Q6ZTA4	TRI67_HUMAN	L	638;640;578;640	ENSP00000412124:V638L;ENSP00000355612:V640L;ENSP00000400163:V578L;ENSP00000355613:V640L	ENSP00000355612:V640L	V	+	1	0	TRIM67	229411414	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.705000	0.98719	2.854000	0.98071	0.655000	0.94253	GTG		0.612	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	113	1	0	1.24e-05	1.35e-05	5	113				
FMN2	56776	broad.mit.edu	37	1	240370553	240370553	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:240370553C>G	ENST00000319653.9	+	5	2671	c.2441C>G	c.(2440-2442)cCa>cGa	p.P814R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	814	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCACCTCCATCCCTTCTG	0.527																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2440-2442)CCA>CGA		formin 2							71.0	67.0	68.0					1																	240370553		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370553C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2441C>G	1.37:g.240370553C>G	ENSP00000318884:p.Pro814Arg					FMN2_uc010pye.1_Missense_Mutation_p.P818R	p.P814R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2666	+	Ovarian(103;0.127)	all_cancers(173;0.013)	814			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2441C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	2.417	-0.334015	0.05278	.	.	ENSG00000155816	ENST00000319653	T	0.28069	1.63	4.22	1.24	0.21308	Actin-binding FH2/DRF autoregulatory (1);	0.846232	0.10193	N	0.704437	T	0.26846	0.0657	L	0.60455	1.87	0.35373	D	0.789222	P	0.46395	0.877	B	0.39185	0.293	T	0.34950	-0.9808	9	.	.	.	.	7.0256	0.24938	0.0:0.4502:0.0:0.5498	.	814	Q9NZ56	FMN2_HUMAN	R	814	ENSP00000318884:P814R	.	P	+	2	0	FMN2	238437176	0.001000	0.12720	0.004000	0.12327	0.120000	0.20174	0.926000	0.28804	0.158000	0.19367	0.555000	0.69702	CCA		0.527	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	66	0	0	0	0	7	66				
CDNF	441549	broad.mit.edu	37	10	14862117	14862117	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:14862117C>T	ENST00000378442.1	-	6	623	c.120G>A	c.(118-120)atG>atA	p.M40I	CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	142						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						CTGCCACTCTCATCTTCCGCA	0.443																																						uc001inb.1		NA																	0					0						c.(424-426)ATG>ATA		arginine-rich, mutated in early stage							118.0	119.0	119.0					10																	14862117		2203	4300	6503	SO:0001583	missense	441549					extracellular region	growth factor activity	g.chr10:14862117C>T	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.120G>A	10.37:g.14862117C>T	ENSP00000367703:p.Met40Ile					CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Missense_Mutation_p.M33I	p.M142I	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN			4	464	-			142					A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37	c.426G>A		.	.	.	.	.	.	.	.	.	.	C	18.08	3.543377	0.65198	.	.	ENSG00000185267	ENST00000378442;ENST00000465530	.	.	.	5.9	5.9	0.94986	.	0.042699	0.85682	D	0.000000	T	0.64789	0.2630	M	0.70595	2.14	0.54753	D	0.99998	B	0.31968	0.349	B	0.29942	0.109	T	0.65672	-0.6111	9	0.59425	D	0.04	-36.1751	19.0536	0.93054	0.0:1.0:0.0:0.0	.	142	Q49AH0	CDNF_HUMAN	I	40;142	.	ENSP00000367703:M40I	M	-	3	0	CDNF	14902123	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.986000	0.49370	2.806000	0.96561	0.655000	0.94253	ATG		0.443	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954		25	101	0	0	0	0	25	101				
GAD2	2572	broad.mit.edu	37	10	26575364	26575364	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:26575364G>A	ENST00000376261.3	+	13	1830	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	GAD2_ENST00000259271.3_Missense_Mutation_p.A443T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	443					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGAGACAAGGCCTTACAGTG	0.438																																						uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1327-1329)GCC>ACC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						139.0	114.0	123.0					10																	26575364		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575364G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1327G>A	10.37:g.26575364G>A	ENSP00000365437:p.Ala443Thr					GAD2_uc001isq.2_Missense_Mutation_p.A443T	p.A443T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			13	1830	+			443					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1327G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195399	0.58126	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.28895	1.59;1.59	4.98	4.06	0.47325	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	N	0.02111	-0.68	0.80722	D	1	B	0.21905	0.062	B	0.22753	0.041	T	0.08597	-1.0714	10	0.10902	T	0.67	-14.8012	15.2841	0.73814	0.0:0.1408:0.8591:0.0	.	443	Q05329	DCE2_HUMAN	T	443	ENSP00000365437:A443T;ENSP00000259271:A443T	ENSP00000259271:A443T	A	+	1	0	GAD2	26615370	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.476000	0.97823	1.074000	0.40909	-0.175000	0.13238	GCC		0.438	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		23	60	0	0	0	0	23	60				
SEMA4G	57715	broad.mit.edu	37	10	102737432	102737432	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:102737432C>T	ENST00000370250.4	+	4	753	c.380C>T	c.(379-381)tCt>tTt	p.S127F	SEMA4G_ENST00000210633.3_Missense_Mutation_p.S127F|RP11-108L7.4_ENST00000447344.1_RNA|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S127F	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	127	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGGCTCAATTCTACCCACCTC	0.557																																						uc010qpt.1		NA																	0				breast(1)	1						c.(379-381)TCT>TTT		semaphorin 4G							245.0	198.0	214.0					10																	102737432		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102737432C>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.380C>T	10.37:g.102737432C>T	ENSP00000359270:p.Ser127Phe					SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.S127F|SEMA4G_uc001krx.2_Missense_Mutation_p.S127F	p.S127F	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	5	823	+		Colorectal(252;0.234)	127			Extracellular (Potential).|Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.380C>T		.	.	.	.	.	.	.	.	.	.	C	16.20	3.055802	0.55325	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.32	2.13	0.27403	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.394230	0.27851	N	0.017588	T	0.47340	0.1440	M	0.70595	2.14	0.21553	N	0.999643	P;P;B	0.52463	0.537;0.953;0.344	P;P;P	0.62649	0.54;0.905;0.473	T	0.26849	-1.0091	10	0.62326	D	0.03	.	8.7771	0.34769	0.3651:0.4164:0.2185:0.0	.	127;127;127	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	F	127	ENSP00000428896:S127F;ENSP00000430103:S127F;ENSP00000359270:S127F;ENSP00000430175:S127F;ENSP00000210633:S127F	ENSP00000210633:S127F	S	+	2	0	SEMA4G	102727422	0.916000	0.31088	0.934000	0.37439	0.808000	0.45660	1.089000	0.30890	0.555000	0.29079	-0.500000	0.04577	TCT		0.557	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			18	86	0	0	0	0	18	86				
NOLC1	9221	broad.mit.edu	37	10	103917061	103917061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:103917061C>T	ENST00000605788.1	+	3	527	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000488254.2_Nonsense_Mutation_p.Q99*|NOLC1_ENST00000405356.1_Nonsense_Mutation_p.Q98*	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	98	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAAGTTCAAGGGCCTCC	0.517																																						uc001kuo.2		NA																	0				ovary(1)	1						c.(292-294)CAA>TAA		nucleolar and coiled-body phosphoprotein 1							76.0	73.0	74.0					10																	103917061		2203	4300	6503	SO:0001587	stop_gained	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103917061C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.292C>T	10.37:g.103917061C>T	ENSP00000474710:p.Gln98*					NOLC1_uc001kup.2_Nonsense_Mutation_p.Q98*|NOLC1_uc001kuq.2_Nonsense_Mutation_p.Q99*|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	p.Q98*	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	3	527	+		Colorectal(252;0.122)	98			11 X 12 AA approximate repeats of an acidic serine cluster.		Q15030|Q5VV70|Q9BUV3	Nonsense_Mutation	SNP	ENST00000605788.1	37	c.292C>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511927	0.27036	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	.	.	.	5.82	2.71	0.32032	.	0.437833	0.20893	N	0.083790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	0.2155	9.8575	0.41094	0.2802:0.5955:0.1243:0.0	.	.	.	.	X	98	.	ENSP00000359024:Q98X	Q	+	1	0	NOLC1	103907051	0.000000	0.05858	0.010000	0.14722	0.210000	0.24377	0.080000	0.14802	1.429000	0.47314	0.655000	0.94253	CAA		0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		6	45	0	0	0	0	6	45				
OR51A2	401667	broad.mit.edu	37	11	4976751	4976751	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:4976751G>C	ENST00000380371.1	-	1	192	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.438																																						uc010qyt.1		NA																	0					0						c.(193-195)CTT>GTT		olfactory receptor, family 51, subfamily A,							84.0	55.0	65.0					11																	4976751		2144	4173	6317	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976751G>C	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.193C>G	11.37:g.4976751G>C	ENSP00000369729:p.Leu65Val						p.L65V	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	193	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	65			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.193C>G	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	10.48	1.362933	0.24684	.	.	ENSG00000205496	ENST00000380371	T	0.14022	2.54	2.94	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38506	0.1043	M	0.87269	2.87	0.28768	N	0.900525	D	0.89917	1.0	D	0.77004	0.989	T	0.17868	-1.0355	9	0.87932	D	0	.	8.6825	0.34218	0.1206:0.0:0.8794:0.0	.	65	Q8NGJ7	O51A2_HUMAN	V	65	ENSP00000369729:L65V	ENSP00000369729:L65V	L	-	1	0	OR51A2	4933327	0.997000	0.39634	0.635000	0.29338	0.018000	0.09664	2.299000	0.43611	0.555000	0.29079	0.380000	0.24917	CTT		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		10	68	0	0	0	0	10	68				
OR52A5	390054	broad.mit.edu	37	11	5153246	5153246	+	Silent	SNP	G	G	T	rs376429729		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:5153246G>T	ENST00000307388.1	-	1	626	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	209					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAACCCTAGGATTGCAAAGG	0.418																																						uc010qyx.1		NA																	1	Unknown(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(625-627)ATC>ATA		olfactory receptor, family 52, subfamily A,							100.0	96.0	98.0					11																	5153246		2201	4298	6499	SO:0001819	synonymous_variant	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153246G>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.627C>A	11.37:g.5153246G>T							p.I209I	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	627	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	209			Helical; Name=5; (Potential).			Silent	SNP	ENST00000307388.1	37	c.627C>A	CCDS31373.1																																																																																				0.418	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		7	53	1	0	2.01e-06	2.21e-06	7	53				
TRIM51	84767	broad.mit.edu	37	11	55653198	55653198	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:55653198G>C	ENST00000449290.2	+	2	386	c.294G>C	c.(292-294)gaG>gaC	p.E98D	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E98D(1)									TGCACAGAGAGACAAAGAAGA	0.488																																						uc010rip.1		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(292-294)GAG>GAC		SPRY domain containing 5							11.0	11.0	11.0					11																	55653198		691	1590	2281	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653198G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.294G>C	11.37:g.55653198G>C	ENSP00000395086:p.Glu98Asp					SPRYD5_uc010riq.1_5'Flank	p.E98D	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	386	+		all_epithelial(135;0.226)	98			B box-type.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.294G>C		.	.	.	.	.	.	.	.	.	.	.	12.04	1.817561	0.32145	.	.	ENSG00000124900	ENST00000449290	T	0.47528	0.84	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.65637	0.2710	M	0.91818	3.245	0.54753	D	0.999981	D	0.60575	0.988	D	0.64877	0.93	T	0.65207	-0.6224	9	0.72032	D	0.01	.	3.2172	0.06702	0.3197:0.0:0.6803:0.0	.	98	Q9BSJ1	SPRY5_HUMAN	D	98	ENSP00000395086:E98D	ENSP00000395086:E98D	E	+	3	2	SPRYD5	55409774	0.506000	0.26139	0.041000	0.18516	0.104000	0.19210	0.449000	0.21744	0.752000	0.32923	0.152000	0.16155	GAG		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		3	43	0	0	0	0	3	43				
SSRP1	6749	broad.mit.edu	37	11	57099146	57099146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:57099146C>G	ENST00000278412.2	-	9	1485	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	407					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTCACCTCTCAATGCTGCTG	0.532																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NA																	0				ovary(2)	2						c.(1219-1221)GAG>CAG		structure specific recognition protein 1							82.0	83.0	82.0					11																	57099146		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099146C>G	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1219G>C	11.37:g.57099146C>G	ENSP00000278412:p.Glu407Gln						p.E407Q	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			9	1486	-			407					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1219G>C	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569843	0.65765	.	.	ENSG00000149136	ENST00000278412	T	0.46451	0.87	5.65	5.65	0.86999	.	0.124257	0.64402	D	0.000020	T	0.42108	0.1188	L	0.42581	1.335	0.80722	D	1	B	0.27068	0.167	B	0.30572	0.117	T	0.16482	-1.0401	10	0.41790	T	0.15	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	407	Q08945	SSRP1_HUMAN	Q	407	ENSP00000278412:E407Q	ENSP00000278412:E407Q	E	-	1	0	SSRP1	56855722	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.087000	0.76893	2.941000	0.99782	0.655000	0.94253	GAG		0.532	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		8	41	0	0	0	0	8	41				
MYRF	745	broad.mit.edu	37	11	61551037	61551037	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:61551037C>T	ENST00000278836.5	+	23	3180	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Silent_p.I414I|MYRF_ENST00000265460.5_Silent_p.I988I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1028					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGATGTCCATCACCTCCCAGT	0.617																																						uc001nsc.1		NA																	0				breast(1)	1						c.(3082-3084)ATC>ATT		myelin gene regulatory factor isoform 2							160.0	143.0	149.0					11																	61551037		2202	4299	6501	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61551037C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3084C>T	11.37:g.61551037C>T						C11orf9_uc001nse.1_Silent_p.I988I|C11orf9_uc010rll.1_Silent_p.I414I	p.I1028I	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			23	3180	+			1028					O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.3084C>T	CCDS44622.1																																																																																				0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		9	110	0	0	0	0	9	110				
ARHGEF17	9828	broad.mit.edu	37	11	73020920	73020920	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:73020920T>C	ENST00000263674.3	+	1	1587	c.1237T>C	c.(1237-1239)Tgg>Cgg	p.W413R	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	413					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTCTGGGGGCTGGGGCGTGTA	0.652																																						uc001otu.2		NA																	0					0						c.(1237-1239)TGG>CGG		Rho guanine nucleotide exchange factor (GEF) 17							36.0	38.0	37.0					11																	73020920		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020920T>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1237T>C	11.37:g.73020920T>C	ENSP00000263674:p.Trp413Arg						p.W413R	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	1258	+			413					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1237T>C	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562909	0.65538	.	.	ENSG00000110237	ENST00000263674	T	0.57107	0.42	4.43	3.31	0.37934	.	0.000000	0.34046	N	0.004319	T	0.44329	0.1288	N	0.24115	0.695	0.30293	N	0.790168	D	0.56521	0.976	P	0.50708	0.648	T	0.48647	-0.9017	10	0.87932	D	0	-2.3734	8.2831	0.31913	0.0:0.0966:0.0:0.9033	.	413	Q96PE2	ARHGH_HUMAN	R	413	ENSP00000263674:W413R	ENSP00000263674:W413R	W	+	1	0	ARHGEF17	72698568	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.683000	0.46943	1.648000	0.50643	0.379000	0.24179	TGG		0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		6	42	0	0	0	0	6	42				
USP35	57558	broad.mit.edu	37	11	77924770	77924770	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:77924770G>C	ENST00000529308.1	+	11	3229	c.2968G>C	c.(2968-2970)Gat>Cat	p.D990H	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D721H|USP35_ENST00000441408.2_Missense_Mutation_p.D576H|USP35_ENST00000530267.1_Missense_Mutation_p.D558H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	990					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGGGGCTTTGATGAAGACAA	0.587																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(2968-2970)GAT>CAT		ubiquitin specific protease 35							58.0	60.0	60.0					11																	77924770		1981	4154	6135	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924770G>C	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2968G>C	11.37:g.77924770G>C	ENSP00000431876:p.Asp990His					USP35_uc001ozc.2_Missense_Mutation_p.D558H|USP35_uc010rsp.1_Missense_Mutation_p.D422H|USP35_uc001ozd.2_Missense_Mutation_p.D601H|USP35_uc001ozf.2_Missense_Mutation_p.D721H	p.D990H	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3214	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		990						Missense_Mutation	SNP	ENST00000529308.1	37	c.2968G>C	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.278469	0.80692	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.14144	3.1;3.3;2.53;3.2	4.7	4.7	0.59300	.	0.115812	0.37761	N	0.001957	T	0.34221	0.0890	L	0.54323	1.7	0.46849	D	0.99922	D;D	0.89917	0.999;1.0	P;D	0.78314	0.896;0.991	T	0.07195	-1.0785	10	0.87932	D	0	-27.8907	17.842	0.88718	0.0:0.0:1.0:0.0	.	990;576	Q9P2H5;E7EWV7	UBP35_HUMAN;.	H	558;990;576;721	ENSP00000435468:D558H;ENSP00000431876:D990H;ENSP00000400825:D576H;ENSP00000434942:D721H	ENSP00000400825:D576H	D	+	1	0	USP35	77602418	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.238000	0.72350	2.436000	0.82500	0.558000	0.71614	GAT		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	51	0	0	0	0	5	51				
OR10G4	390264	broad.mit.edu	37	11	123887072	123887072	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:123887072T>C	ENST00000320891.4	+	1	791	c.791T>C	c.(790-792)aTg>aCg	p.M264T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAGGCTCCATGGATGCCATG	0.517																																						uc010sac.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(790-792)ATG>ACG		olfactory receptor, family 10, subfamily G,							118.0	94.0	102.0					11																	123887072		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887072T>C	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.791T>C	11.37:g.123887072T>C	ENSP00000325076:p.Met264Thr						p.M264T	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	791	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	264			Extracellular (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.791T>C	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.539108	0.00143	.	.	ENSG00000254737	ENST00000320891	T	0.35421	1.31	3.48	-3.27	0.05048	GPCR, rhodopsin-like superfamily (1);	0.913972	0.09066	N	0.853589	T	0.09598	0.0236	N	0.01197	-0.965	0.09310	N	1	B	0.12013	0.005	B	0.20384	0.029	T	0.27468	-1.0073	10	0.02654	T	1	.	6.192	0.20530	0.29:0.0:0.4753:0.2347	.	264	Q8NGN3	O10G4_HUMAN	T	264	ENSP00000325076:M264T	ENSP00000325076:M264T	M	+	2	0	OR10G4	123392282	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-5.547000	0.00114	-1.274000	0.02421	-0.946000	0.02672	ATG		0.517	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		18	55	0	0	0	0	18	55				
FGD4	121512	broad.mit.edu	37	12	32793362	32793362	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:32793362G>A	ENST00000427716.2	+	17	2620	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	FGD4_ENST00000525053.1_Silent_p.L844L|FGD4_ENST00000534526.2_Silent_p.L869L|FGD4_ENST00000531134.1_Silent_p.L817L|FGD4_ENST00000546442.1_Silent_p.L639L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	732	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAGTGGCTGAAAGTCATCC	0.493																																						uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2194-2196)CTG>CTA		FYVE, RhoGEF and PH domain containing 4							115.0	94.0	101.0					12																	32793362		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32793362G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2196G>A	12.37:g.32793362G>A						FGD4_uc001rlc.2_Silent_p.L817L|FGD4_uc001rla.2_Silent_p.L388L|FGD4_uc010ske.1_Silent_p.L844L|FGD4_uc001rlb.1_RNA	p.L732L	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			17	2673	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		732			PH 2.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.2196G>A	CCDS8727.1																																																																																				0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		5	67	0	0	0	0	5	67				
HNRNPA1	3178	broad.mit.edu	37	12	54675202	54675202	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:54675202C>G	ENST00000340913.6	+	2	101	c.48C>G	c.(46-48)ctC>ctG	p.L16L	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Silent_p.L16L|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000330752.8_Silent_p.L16L|HNRNPA1_ENST00000547276.1_Silent_p.L16L|CBX5_ENST00000209875.4_5'Flank	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	16	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGAGGAAGCTCTTCATTGGAG	0.493																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NA																	0				skin(2)|ovary(1)	3						c.(46-48)CTC>CTG		heterogeneous nuclear ribonucleoprotein A1							66.0	69.0	68.0					12																	54675202		1964	4187	6151	SO:0001819	synonymous_variant	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675202C>G	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.48C>G	12.37:g.54675202C>G						CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Silent_p.L16L|HNRNPA1_uc009zng.2_Silent_p.L16L|HNRNPA1_uc009znh.2_Silent_p.L16L|HNRNPA1_uc009zni.2_Silent_p.L16L|HNRNPA1_uc001sfn.2_Silent_p.L16L|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_5'UTR|HNRNPA1_uc009znj.1_5'Flank	p.L16L	NM_031157	NP_112420	P09651	ROA1_HUMAN			2	152	+			16			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Silent	SNP	ENST00000340913.6	37	c.48C>G	CCDS44909.1																																																																																				0.493	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		9	91	0	0	0	0	9	91				
CNPY2	10330	broad.mit.edu	37	12	56704786	56704786	+	Missense_Mutation	SNP	C	C	T	rs199561924		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:56704786C>T	ENST00000273308.4	-	5	1001	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R154Q|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	154	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.R154Q(1)		large_intestine(2)|lung(2)	4						GTCAGCCTCTCGGGAAAAGAA	0.478																																						uc001sku.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(460-462)CGA>CAA		canopy 2 homolog precursor		C	GLN/ARG	0,4406		0,0,2203	121.0	116.0	118.0		461	4.4	1.0	12		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNPY2	NM_014255.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	154/183	56704786	1,13005	2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56704786C>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.461G>A	12.37:g.56704786C>T	ENSP00000273308:p.Arg154Gln						p.R154Q	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN			5	1002	-			154			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.461G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837568	0.32513	0.0	1.16E-4	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T	0.34472	1.36;1.36;1.36	5.29	4.39	0.52855	Saposin B (1);	0.068674	0.64402	D	0.000013	T	0.10208	0.0250	N	0.01242	-0.935	0.36934	D	0.89205	B	0.21753	0.06	B	0.14578	0.011	T	0.28902	-1.0029	10	0.08179	T	0.78	-21.1774	6.3458	0.21349	0.0:0.7582:0.0:0.2418	.	154	Q9Y2B0	CNPY2_HUMAN	Q	154;154;154;102	ENSP00000446743:R154Q;ENSP00000273308:R154Q;ENSP00000448809:R154Q	ENSP00000273308:R154Q	R	-	2	0	RP11-977G19.10;CNPY2	54991053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.847000	0.48270	2.648000	0.89879	0.561000	0.74099	CGA		0.478	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		7	106	0	0	0	0	7	106				
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:57485439G>C	ENST00000300131.3	+	2	993	c.615G>C	c.(613-615)tcG>tcC	p.S205S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.S205S|NAB2_ENST00000342556.6_Silent_p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	205					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTGGCTCGCCCCCCTTCT	0.726																																						uc001smz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(613-615)TCG>TCC		NGFI-A binding protein 2							12.0	17.0	15.0					12																	57485439		2194	4280	6474	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485439G>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.615G>C	12.37:g.57485439G>C							p.S205S	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	993	+			205					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.615G>C	CCDS8930.1																																																																																				0.726	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	36	0	0	0	0	6	36				
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398																																						uc001ssb.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(2)	2						c.(421-423)CTC>CTG		tRNA exportin							129.0	128.0	128.0					12																	64812808		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812808C>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.423C>G	12.37:g.64812808C>G						XPOT_uc009zqm.1_Silent_p.L51L	p.L141L	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	849	+			141			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.423C>G	CCDS31852.1																																																																																				0.398	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	266	0	0	0	0	4	266				
MYCBP2	23077	broad.mit.edu	37	13	77759426	77759426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:77759426C>G	ENST00000544440.2	-	32	4434	c.4417G>C	c.(4417-4419)Gaa>Caa	p.E1473Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1473Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1511Q					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAACTCCTTCTGATAAAATT	0.378																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4417-4419)GAA>CAA		MYC binding protein 2							141.0	153.0	149.0					13																	77759426		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77759426C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4417G>C	13.37:g.77759426C>G	ENSP00000444596:p.Glu1473Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.E877Q	p.E1473Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	33	4508	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1473						Missense_Mutation	SNP	ENST00000544440.2	37	c.4417G>C		.	.	.	.	.	.	.	.	.	.	C	22.3	4.272193	0.80469	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32515	1.45;1.45;1.45	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.38134	-0.9675	10	0.62326	D	0.03	.	20.1518	0.98089	0.0:1.0:0.0:0.0	.	1473	O75592	MYCB2_HUMAN	Q	1473;1511;1473	ENSP00000349892:E1473Q;ENSP00000384288:E1511Q;ENSP00000444596:E1473Q	ENSP00000349892:E1473Q	E	-	1	0	MYCBP2	76657427	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.487000	0.81328	2.769000	0.95229	0.491000	0.48974	GAA		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	366	0	0	0	0	14	366				
SCEL	8796	broad.mit.edu	37	13	78214885	78214885	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:78214885A>G	ENST00000349847.3	+	31	1997	c.1913A>G	c.(1912-1914)gAa>gGa	p.E638G	SCEL_ENST00000535157.1_Missense_Mutation_p.E596G|SCEL_ENST00000377246.3_Missense_Mutation_p.E618G	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	638	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTTAGATGAATTACAAATT	0.279																																						uc001vki.2		NA																	0				ovary(4)|breast(1)	5						c.(1912-1914)GAA>GGA		sciellin isoform 1							91.0	89.0	90.0					13																	78214885		2203	4298	6501	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78214885A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1913A>G	13.37:g.78214885A>G	ENSP00000302579:p.Glu638Gly					SCEL_uc001vkj.2_Missense_Mutation_p.E618G|SCEL_uc010thx.1_Missense_Mutation_p.E596G	p.E638G	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	31	2083	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	638			LIM zinc-binding.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1913A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237023	0.79800	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.81499	-1.5;-1.5;-1.5	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000019	T	0.77458	0.4133	N	0.04508	-0.205	0.36294	D	0.856582	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.71414	0.963;0.967;0.973	D	0.84445	0.0585	10	0.66056	D	0.02	-29.5789	12.1849	0.54231	0.8576:0.1424:0.0:0.0	.	596;618;638	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	G	596;618;638	ENSP00000437895:E596G;ENSP00000366454:E618G;ENSP00000302579:E638G	ENSP00000302579:E638G	E	+	2	0	SCEL	77112886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.098000	0.64548	2.371000	0.80710	0.533000	0.62120	GAA		0.279	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		7	93	0	0	0	0	7	93				
CARKD	55739	broad.mit.edu	37	13	111287916	111287916	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:111287916C>G	ENST00000309957.2	+	8	767	c.753C>G	c.(751-753)atC>atG	p.I251M	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.I141M|CARKD_ENST00000458711.2_Missense_Mutation_p.I120M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGCGCGACATCCTCTCCAACG	0.622																																						uc001vrb.2		NA																	0				skin(1)	1						c.(751-753)ATC>ATG		RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;							125.0	113.0	117.0					13																	111287916		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111287916C>G	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.753C>G	13.37:g.111287916C>G	ENSP00000311984:p.Ile251Met					CARKD_uc010tjj.1_Missense_Mutation_p.I233M|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.I141M|CARKD_uc010tjl.1_Missense_Mutation_p.I120M|CARKD_uc001vrc.2_Missense_Mutation_p.I251M	p.I251M			Q8IW45	CARKD_HUMAN			8	767	+			251			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.753C>G	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316259	0.23908	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.25250	1.81;1.81;1.81	4.86	-0.375	0.12509	Uncharacterised domain, carbohydrate kinase-related (3);	0.232958	0.35495	N	0.003179	T	0.42517	0.1206	M	0.88377	2.95	0.80722	D	1	D;P;P;D;D	0.56035	0.957;0.948;0.908;0.958;0.974	P;P;P;P;P	0.60286	0.854;0.735;0.827;0.822;0.872	T	0.37291	-0.9712	10	0.72032	D	0.01	-6.8134	2.0555	0.03580	0.0979:0.2368:0.2863:0.379	.	120;141;233;251;251	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	M	120;141;233;251	ENSP00000412789:I120M;ENSP00000413191:I141M;ENSP00000311984:I251M	ENSP00000311984:I251M	I	+	3	3	CARKD	110085917	0.996000	0.38824	0.098000	0.21074	0.003000	0.03518	0.291000	0.18994	0.412000	0.25729	-0.502000	0.04539	ATC		0.622	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		4	52	0	0	0	0	4	52				
SOS2	6655	broad.mit.edu	37	14	50655318	50655318	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:50655318C>G	ENST00000216373.5	-	5	885	c.611G>C	c.(610-612)aGa>aCa	p.R204T	SOS2_ENST00000543680.1_Missense_Mutation_p.R204T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	204	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATTTCAGTTCTGACAAGATC	0.358																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(610-612)AGA>ACA		son of sevenless homolog 2							96.0	89.0	92.0					14																	50655318		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50655318C>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.611G>C	14.37:g.50655318C>G	ENSP00000216373:p.Arg204Thr					SOS2_uc010tql.1_Missense_Mutation_p.R204T	p.R204T	NM_006939	NP_008870	Q07890	SOS2_HUMAN			5	709	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		204			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.611G>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422283	0.83559	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.80653	-1.4;-1.23	5.64	5.64	0.86602	Dbl homology (DH) domain (4);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	M	0.72894	2.215	0.58432	D	0.99999	D;D	0.67145	0.996;0.974	D;D	0.66497	0.944;0.911	D	0.89694	0.3900	10	0.87932	D	0	.	19.6984	0.96043	0.0:1.0:0.0:0.0	.	204;204	B7ZKT6;Q07890	.;SOS2_HUMAN	T	204	ENSP00000216373:R204T;ENSP00000445328:R204T	ENSP00000216373:R204T	R	-	2	0	SOS2	49725068	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.060000	0.57477	2.658000	0.90341	0.655000	0.94253	AGA		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			7	38	0	0	0	0	7	38				
NRDE2	55051	broad.mit.edu	37	14	90756719	90756719	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:90756719C>T	ENST00000354366.3	-	10	2307	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	NRDE2_ENST00000357904.3_Missense_Mutation_p.R461H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	692																	CCTATCCATGCGGCCAACACA	0.488																																						uc001xyi.1		NA																	0				ovary(2)|lung(1)	3						c.(2074-2076)CGC>CAC		hypothetical protein LOC55051 isoform 1							57.0	56.0	57.0					14																	90756719		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90756719C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2075G>A	14.37:g.90756719C>T	ENSP00000346335:p.Arg692His					C14orf102_uc010atp.1_Missense_Mutation_p.R197H|C14orf102_uc001xyj.1_Missense_Mutation_p.R461H|C14orf102_uc001xyk.1_5'Flank	p.R692H	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	10	2106	-		all_cancers(154;0.118)	692					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2075G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120947	0.37436	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34072	1.38;1.38	5.91	-1.41	0.08941	.	0.571777	0.19062	N	0.123760	T	0.12603	0.0306	N	0.11201	0.11	0.21220	N	0.999755	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.14656	T	0.56	-1.1151	1.9423	0.03349	0.148:0.1733:0.1478:0.5309	.	692	Q9H7Z3	CN102_HUMAN	H	692;461	ENSP00000346335:R692H;ENSP00000350579:R461H	ENSP00000346335:R692H	R	-	2	0	C14orf102	89826472	0.999000	0.42202	0.861000	0.33841	0.922000	0.55478	0.448000	0.21726	-0.102000	0.12197	0.655000	0.94253	CGC		0.488	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		3	36	0	0	0	0	3	36				
CCNK	8812	broad.mit.edu	37	14	99959906	99959906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:99959906C>T	ENST00000389879.5	+	3	376	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.H85Y	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	85					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CTATATGTTTCATTCCTTCAA	0.318																																						uc001ygi.3		NA																	0					0						c.(253-255)CAT>TAT		cyclin K isoform 1							117.0	114.0	115.0					14																	99959906		1819	4071	5890	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99959906C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.253C>T	14.37:g.99959906C>T	ENSP00000374529:p.His85Tyr					CCNK_uc001ygg.3_Missense_Mutation_p.H85Y	p.H85Y	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			3	383	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	85					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.253C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919222	0.92249	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049;ENST00000555842	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.87	5.87	0.94306	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.71871	2.18	0.80722	D	1	D;D	0.69078	0.997;0.99	D;P	0.67231	0.95;0.872	T	0.00948	-1.1504	10	0.87932	D	0	-24.6217	20.5827	0.99408	0.0:1.0:0.0:0.0	.	85;85	O75909;O75909-2	CCNK_HUMAN;.	Y	85	ENSP00000374529:H85Y;ENSP00000450792:H85Y;ENSP00000452307:H85Y;ENSP00000450440:H85Y	ENSP00000216279:H85Y	H	+	1	0	CCNK	99029659	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.666000	0.83877	2.941000	0.99782	0.655000	0.94253	CAT		0.318	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			8	70	0	0	0	0	8	70				
DYNC1H1	1778	broad.mit.edu	37	14	102449517	102449517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:102449517C>T	ENST00000360184.4	+	6	1287	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	375	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATATCCTATTCAGAGGGCACT	0.418																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(1123-1125)CAG>TAG		cytoplasmic dynein 1 heavy chain 1							76.0	73.0	74.0					14																	102449517		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102449517C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1123C>T	14.37:g.102449517C>T	ENSP00000348965:p.Gln375*						p.Q375*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			6	1287	+			375			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.1123C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	40	7.951850	0.98577	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	20.1989	0.98252	0.0:1.0:0.0:0.0	.	.	.	.	X	375	.	ENSP00000348965:Q375X	Q	+	1	0	DYNC1H1	101519270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.784000	0.95788	0.591000	0.81541	CAG		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		10	58	0	0	0	0	10	58				
ADSSL1	122622	broad.mit.edu	37	14	105208279	105208279	+	Silent	SNP	C	C	T	rs553526202		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:105208279C>T	ENST00000330877.2	+	9	973	c.888C>T	c.(886-888)ggC>ggT	p.G296G	ADSSL1_ENST00000332972.5_Silent_p.G339G	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACGTGTATGGCGTGGTGAAAG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19006	0.0		0.0	False		,,,				2504	0.0					uc001ypd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(886-888)GGC>GGT		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						164.0	142.0	149.0					14																	105208279		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208279C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.888C>T	14.37:g.105208279C>T						INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.G339G|ADSSL1_uc001ypf.2_RNA	p.G296G	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	9	962	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	296						Silent	SNP	ENST00000330877.2	37	c.888C>T	CCDS9990.1																																																																																				0.637	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			4	99	0	0	0	0	4	99				
EXD1	161829	broad.mit.edu	37	15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A	rs527801980		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:41476734G>A	ENST00000314992.5	-	10	1130	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	EXD1_ENST00000458580.2_Missense_Mutation_p.R372C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCCCTGCGCTGCTTCTGG	0.453																																						uc001znk.2		NA																	0				ovary(1)	1						c.(940-942)CGC>TGC		exonuclease 3'-5' domain containing 1							69.0	70.0	69.0					15																	41476734		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476734G>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.940C>T	15.37:g.41476734G>A	ENSP00000321029:p.Arg314Cys					EXD1_uc001znj.2_Missense_Mutation_p.R112C|EXD1_uc010ucv.1_Missense_Mutation_p.R372C	p.R314C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			10	1131	-			314					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.940C>T	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686455	0.88639	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.70164	-0.46;-0.4	5.25	5.25	0.73442	Ribonuclease H-like (1);	0.064498	0.64402	D	0.000016	T	0.81307	0.4795	M	0.72894	2.215	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.82516	-0.0418	10	0.87932	D	0	-26.1838	17.1479	0.86771	0.0:0.0:1.0:0.0	.	372;314;112	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	C	314;372	ENSP00000321029:R314C;ENSP00000415056:R372C	ENSP00000321029:R314C	R	-	1	0	EXD1	39264026	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.368000	0.44222	2.885000	0.99019	0.655000	0.94253	CGC		0.453	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		24	65	0	0	0	0	24	65				
CLDN9	9080	broad.mit.edu	37	16	3063730	3063730	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3063730G>C	ENST00000445369.2	+	1	1274	c.367G>C	c.(367-369)Gtc>Ctc	p.V123L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	123					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CACCGCGGGGGTCATCCTCCT	0.657																																						uc010uwo.1		NA																	0					0						c.(367-369)GTC>CTC		claudin 9							99.0	97.0	98.0					16																	3063730		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063730G>C	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.367G>C	16.37:g.3063730G>C	ENSP00000398017:p.Val123Leu						p.V123L	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1274	+			123			Helical; (Potential).			Missense_Mutation	SNP	ENST00000445369.2	37	c.367G>C	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438992	0.25900	.	.	ENSG00000213937	ENST00000445369	D	0.88664	-2.41	4.85	1.64	0.23874	.	0.619252	0.16293	N	0.220809	D	0.88381	0.6421	M	0.83118	2.625	0.23787	N	0.996841	B	0.18166	0.026	B	0.25506	0.061	T	0.81758	-0.0786	10	0.56958	D	0.05	.	8.9264	0.35643	0.2216:0.0:0.7784:0.0	.	123	O95484	CLD9_HUMAN	L	123	ENSP00000398017:V123L	ENSP00000398017:V123L	V	+	1	0	CLDN9	3003731	0.003000	0.15002	0.001000	0.08648	0.945000	0.59286	0.889000	0.28282	0.624000	0.30286	0.563000	0.77884	GTC		0.657	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		13	85	0	0	0	0	13	85				
MEFV	4210	broad.mit.edu	37	16	3304457	3304457	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3304457C>T	ENST00000219596.1	-	2	650	c.611G>A	c.(610-612)cGc>cAc	p.R204H	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCGTTTCTGCGCAGCCGGAC	0.766																																						uc002cun.1		NA																	0		p.R204C(1)		central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(610-612)CGC>CAC		Mediterranean fever protein	Colchicine(DB01394)						10.0	13.0	12.0					16																	3304457		2159	4215	6374	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304457C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.611G>A	16.37:g.3304457C>T	ENSP00000219596:p.Arg204His						p.R204H	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	651	-			204					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.611G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859942	0.51482	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.68624	-0.34	4.79	4.79	0.61399	.	0.245199	0.29783	N	0.011202	T	0.71230	0.3315	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.73043	-0.4107	10	0.87932	D	0	-13.1196	13.6483	0.62294	0.0:1.0:0.0:0.0	.	204	O15553	MEFV_HUMAN	H	204	ENSP00000219596:R204H	ENSP00000219596:R204H	R	-	2	0	MEFV	3244458	0.995000	0.38212	0.997000	0.53966	0.028000	0.11728	0.386000	0.20702	2.941000	0.99782	0.655000	0.94253	CGC		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	27	0	0	0	0	4	27				
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000588623.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																						uc002cym.2		NA																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(907-909)GAA>GAG		beta-1,4-mannosyltransferase							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G						ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E	p.E303E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			9	950	+		Ovarian(90;0.0164)	303			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.909A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		3	126	0	0	0	0	3	126				
CDH8	1006	broad.mit.edu	37	16	62055210	62055210	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:62055210T>C	ENST00000577390.1	-	2	1052	c.98A>G	c.(97-99)aAt>aGt	p.N33S	CDH8_ENST00000584337.1_Missense_Mutation_p.N33S|CDH8_ENST00000577730.1_Missense_Mutation_p.N33S|CDH8_ENST00000299345.6_Missense_Mutation_p.N33S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	33					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGAGACTGATTCATCGGAGC	0.443																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(97-99)AAT>AGT		cadherin 8, type 2 preproprotein							82.0	83.0	83.0					16																	62055210		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055210T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.98A>G	16.37:g.62055210T>C	ENSP00000462701:p.Asn33Ser						p.N33S	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	350	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	33					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.98A>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	4.116	0.019688	0.08006	.	.	ENSG00000150394	ENST00000299345	T	0.53857	0.6	6.17	2.39	0.29439	.	0.522067	0.21898	N	0.067498	T	0.32675	0.0837	L	0.31207	0.915	0.25274	N	0.989499	B	0.02656	0.0	B	0.04013	0.001	T	0.24835	-1.0149	10	0.02654	T	1	.	9.9953	0.41896	0.0:0.0621:0.2306:0.7073	.	33	P55286	CADH8_HUMAN	S	33	ENSP00000299345:N33S	ENSP00000299345:N33S	N	-	2	0	CDH8	60612711	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	2.834000	0.48167	0.538000	0.28769	0.533000	0.62120	AAT		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	68	0	0	0	0	14	68				
NLRP1	22861	broad.mit.edu	37	17	5462454	5462454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:5462454C>T	ENST00000572272.1	-	4	1561	c.1562G>A	c.(1561-1563)tGg>tAg	p.W521*	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W521*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.W521*|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.W521*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W521*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W521*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	521	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGACACCCAGGGCACAAG	0.478																																						uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(1561-1563)TGG>TAG		NLR family, pyrin domain containing 1 isoform 1							106.0	98.0	101.0					17																	5462454		2203	4300	6503	SO:0001587	stop_gained	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462454C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1562G>A	17.37:g.5462454C>T	ENSP00000460475:p.Trp521*					NLRP1_uc002gcg.1_Nonsense_Mutation_p.W521*|NLRP1_uc002gck.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gch.3_Nonsense_Mutation_p.W521*|NLRP1_uc010clh.2_Nonsense_Mutation_p.W521*	p.W521*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	2117	-		Colorectal(1115;3.48e-05)	521			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	c.1562G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	38	7.113651	0.98074	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	4.44	-3.79	0.04320	.	1.832950	0.03092	N	0.159935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0616	0.42277	0.6937:0.1924:0.1139:0.0	.	.	.	.	X	521	.	ENSP00000262467:W521X	W	-	2	0	NLRP1	5403178	0.008000	0.16893	0.956000	0.39512	0.134000	0.20937	0.758000	0.26447	-0.342000	0.08363	-0.175000	0.13238	TGG		0.478	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	94	0	0	0	0	7	94				
MYH10	4628	broad.mit.edu	37	17	8383453	8383453	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:8383453C>G	ENST00000269243.4	-	38	5617	c.5479G>C	c.(5479-5481)Gag>Cag	p.E1827Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1843Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1858Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1848Q|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1827					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGCTGCTCCTCCAGCTGCCCA	0.522																																						uc002gll.2		NA																	0				ovary(2)	2						c.(5479-5481)GAG>CAG		myosin, heavy polypeptide 10, non-muscle							100.0	88.0	92.0					17																	8383453		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8383453C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5479G>C	17.37:g.8383453C>G	ENSP00000269243:p.Glu1827Gln					MYH10_uc002glm.2_Missense_Mutation_p.E1858Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1836Q	p.E1827Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			38	5575	-			1827			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5479G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014592	0.93404	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.1	5.1	0.69264	Myosin tail (1);	0.191563	0.47852	D	0.000203	D	0.93687	0.7983	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.99;0.994	D	0.94357	0.7584	10	0.87932	D	0	.	19.0596	0.93081	0.0:1.0:0.0:0.0	.	1836;1858;1827	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1827;1858;1848;1843	ENSP00000269243:E1827Q;ENSP00000353590:E1858Q;ENSP00000379539:E1848Q;ENSP00000369315:E1843Q	ENSP00000269243:E1827Q	E	-	1	0	MYH10	8324178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.818000	0.97014	0.655000	0.94253	GAG		0.522	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			6	92	0	0	0	0	6	92				
DNAH9	1770	broad.mit.edu	37	17	11573107	11573107	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:11573107C>T	ENST00000262442.4	+	17	3417	c.3349C>T	c.(3349-3351)Cac>Tac	p.H1117Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.H1117Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1117	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGTCACTCACAGGTACAA	0.408																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3349-3351)CAC>TAC		dynein, axonemal, heavy chain 9 isoform 2							126.0	124.0	125.0					17																	11573107		2186	4295	6481	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11573107C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3349C>T	17.37:g.11573107C>T	ENSP00000262442:p.His1117Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.H411Y	p.H1117Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3417	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1117			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3349C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896272	0.17686	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25912	1.81;1.77	4.9	-2.14	0.07123	.	0.395989	0.27861	N	0.017556	T	0.14485	0.0350	L	0.34521	1.04	0.52501	D	0.999959	B	0.02656	0.0	B	0.06405	0.002	T	0.04635	-1.0937	10	0.54805	T	0.06	.	5.4217	0.16403	0.3516:0.478:0.0787:0.0917	.	1117	Q9NYC9	DYH9_HUMAN	Y	1117	ENSP00000262442:H1117Y;ENSP00000414874:H1117Y	ENSP00000262442:H1117Y	H	+	1	0	DNAH9	11513832	0.791000	0.28800	0.985000	0.45067	0.242000	0.25591	1.679000	0.37597	-0.024000	0.13941	-0.293000	0.09583	CAC		0.408	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	122	0	0	0	0	13	122				
ARHGAP44	9912	broad.mit.edu	37	17	12862203	12862203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:12862203C>A	ENST00000379672.5	+	16	1812	c.1512C>A	c.(1510-1512)taC>taA	p.Y504*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.Y504*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.Y504*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	504					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGGAGTTTTACAAAAAGGATG	0.572																																						uc002gnr.3		NA																	0					0						c.(1510-1512)TAC>TAA		Rho GTPase-activating protein RICH2							16.0	16.0	16.0					17																	12862203		2089	4229	6318	SO:0001587	stop_gained	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12862203C>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1512C>A	17.37:g.12862203C>A	ENSP00000368994:p.Tyr504*					RICH2_uc010vvk.1_Nonsense_Mutation_p.Y504*|RICH2_uc010vvl.1_Nonsense_Mutation_p.Y504*|RICH2_uc002gns.3_Nonsense_Mutation_p.Y304*|RICH2_uc010vvm.1_Nonsense_Mutation_p.Y504*|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Nonsense_Mutation_p.Y227*	p.Y504*	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			16	1839	+			504					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Nonsense_Mutation	SNP	ENST00000379672.5	37	c.1512C>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949884	0.73787	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	.	.	.	5.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2527	0.43379	0.0:0.8329:0.0:0.1671	.	.	.	.	X	504;166;504	.	ENSP00000342566:Y504X	Y	+	3	2	ARHGAP44	12802928	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	3.011000	0.49567	1.286000	0.44565	-0.373000	0.07131	TAC		0.572	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		3	20	1	0	0.00909568	0.00959505	3	20				
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:39305839A>T	ENST00000343246.4	-	1	215	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667																																						uc002hwb.2		NA																	0					0						c.(181-183)TGC>AGC		keratin associated protein 4-5							19.0	23.0	21.0					17																	39305839		2168	4261	6429	SO:0001583	missense	85289					keratin filament		g.chr17:39305839A>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.181T>A	17.37:g.39305839A>T	ENSP00000340546:p.Cys61Ser						p.C61S	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	216	-		Breast(137;0.000496)	61			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|9.			Missense_Mutation	SNP	ENST00000343246.4	37	c.181T>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026467	0.19512	.	.	ENSG00000198271	ENST00000343246	T	0.00637	6.05	4.04	4.04	0.47022	.	0.000000	0.40302	U	0.001130	T	0.01124	0.0037	M	0.77616	2.38	0.25414	N	0.98834	B	0.25351	0.124	B	0.28553	0.091	T	0.35325	-0.9793	10	0.48119	T	0.1	.	6.1992	0.20567	0.8852:0.0:0.1148:0.0	.	61	Q9BYR2	KRA45_HUMAN	S	61	ENSP00000340546:C61S	ENSP00000340546:C61S	C	-	1	0	KRTAP4-5	36559365	1.000000	0.71417	0.957000	0.39632	0.026000	0.11368	4.257000	0.58816	1.797000	0.52628	0.533000	0.62120	TGC		0.667	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	36	0	0	0	0	3	36				
OR4D2	124538	broad.mit.edu	37	17	56247069	56247069	+	Missense_Mutation	SNP	C	C	G	rs568882234		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:56247069C>G	ENST00000545221.1	+	1	53	c.53C>G	c.(52-54)tCg>tGg	p.S18W		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTGGGGCTCTCGCAGACTCGG	0.468																																						uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(52-54)TCG>TGG		olfactory receptor, family 4, subfamily D,							117.0	109.0	112.0					17																	56247069		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247069C>G		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.53C>G	17.37:g.56247069C>G	ENSP00000441354:p.Ser18Trp						p.S18W	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	53	+			18			Extracellular (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.53C>G	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464965	0.26335	.	.	ENSG00000255713	ENST00000545221	T	0.00446	7.39	5.4	4.43	0.53597	.	0.347796	0.20978	N	0.082272	T	0.01287	0.0042	M	0.88640	2.97	0.42943	D	0.994354	D	0.61697	0.99	P	0.62435	0.902	T	0.57510	-0.7799	10	0.87932	D	0	-4.7292	12.5137	0.56019	0.0:0.9181:0.0:0.0819	.	18	P58180	OR4D2_HUMAN	W	18	ENSP00000441354:S18W	ENSP00000441354:S18W	S	+	2	0	OR4D2	53602068	0.013000	0.17824	0.704000	0.30370	0.025000	0.11179	1.616000	0.36933	1.431000	0.47355	-0.173000	0.13275	TCG		0.468	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			11	89	0	0	0	0	11	89				
ACE	1636	broad.mit.edu	37	17	61573862	61573862	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:61573862C>T	ENST00000290866.4	+	23	3512	c.3488C>T	c.(3487-3489)gCc>gTc	p.A1163V	ACE_ENST00000490216.2_Missense_Mutation_p.A589V|ACE_ENST00000413513.3_Intron|ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.A589V|ACE_ENST00000421982.2_Intron|ACE_ENST00000577647.1_Missense_Mutation_p.A589V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1163	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCAAGGAGGCCGGGCAGCGC	0.627																																						uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3487-3489)GCC>GTC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						60.0	58.0	59.0					17																	61573862		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61573862C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3488C>T	17.37:g.61573862C>T	ENSP00000290866:p.Ala1163Val					ACE_uc002jav.1_Missense_Mutation_p.A589V|ACE_uc010ddv.1_Missense_Mutation_p.A390V|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	p.A1163V	NM_000789	NP_000780	P12821	ACE_HUMAN			23	3510	+			1163			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3488C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149480	0.57151	.	.	ENSG00000159640	ENST00000290866;ENST00000290863	T;T	0.44881	0.91;0.91	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.899;0.998	T	0.73344	-0.4012	10	0.87932	D	0	-21.8368	18.2622	0.90039	0.0:1.0:0.0:0.0	.	589;1163	P12821-3;P12821	.;ACE_HUMAN	V	1163;589	ENSP00000290866:A1163V;ENSP00000290863:A589V	ENSP00000290863:A589V	A	+	2	0	ACE	58927594	1.000000	0.71417	0.992000	0.48379	0.764000	0.43329	7.702000	0.84576	2.393000	0.81446	0.484000	0.47621	GCC		0.627	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	41	0	0	0	0	5	41				
BPTF	2186	broad.mit.edu	37	17	65888058	65888058	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:65888058C>T	ENST00000321892.4	+	7	2402	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	BPTF_ENST00000306378.6_Missense_Mutation_p.R655W|BPTF_ENST00000335221.5_Missense_Mutation_p.R781W|BPTF_ENST00000424123.3_Missense_Mutation_p.R642W			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	781					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCAGATTGCGGAATCCAGA	0.478																																						uc002jgf.2		NA																	0				ovary(2)|skin(2)	4						c.(1963-1965)CGG>TGG		bromodomain PHD finger transcription factor							62.0	58.0	60.0					17																	65888058		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65888058C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2341C>T	17.37:g.65888058C>T	ENSP00000315454:p.Arg781Trp					BPTF_uc002jge.2_Missense_Mutation_p.R781W|BPTF_uc010wqm.1_Missense_Mutation_p.R718W	p.R655W	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	2024	+	all_cancers(12;6e-11)		781					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1963C>T		.	.	.	.	.	.	.	.	.	.	C	15.57	2.873458	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.71934	-0.44;-0.61;-0.57	5.25	3.18	0.36537	.	.	.	.	.	T	0.76154	0.3948	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.887;0.997	T	0.77795	-0.2454	9	0.87932	D	0	-10.9848	14.0611	0.64800	0.53:0.47:0.0:0.0	.	781;655;781	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	W	686;655;781;781;579	ENSP00000307208:R655W;ENSP00000334351:R781W;ENSP00000315454:R781W	ENSP00000307208:R655W	R	+	1	2	BPTF	63318520	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	1.430000	0.34914	0.630000	0.30394	0.655000	0.94253	CGG		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		9	21	0	0	0	0	9	21				
TMEM104	54868	broad.mit.edu	37	17	72832494	72832494	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:72832494G>A	ENST00000335464.5	+	10	1321	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TMEM104_ENST00000582330.1_Missense_Mutation_p.E387K|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	387						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTTCCACCGCGAGGGCGGCAC	0.632																																						uc002jls.3		NA																	0					0						c.(1159-1161)GAG>AAG		transmembrane protein 104							133.0	112.0	119.0					17																	72832494		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832494G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1159G>A	17.37:g.72832494G>A	ENSP00000334849:p.Glu387Lys					TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.E387K	p.E387K	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			10	1321	+	all_lung(278;0.23)		387			Cytoplasmic (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1159G>A	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854495	0.91355	.	.	ENSG00000109066	ENST00000335464	T	0.01963	4.53	5.03	5.03	0.67393	.	0.049006	0.85682	D	0.000000	T	0.06325	0.0163	L	0.48986	1.54	0.58432	D	0.999999	D	0.67145	0.996	P	0.57101	0.813	T	0.50709	-0.8796	10	0.07030	T	0.85	-33.3348	18.7182	0.91684	0.0:0.0:1.0:0.0	.	387	Q8NE00	TM104_HUMAN	K	387	ENSP00000334849:E387K	ENSP00000334849:E387K	E	+	1	0	TMEM104	70344089	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.406000	0.97321	2.514000	0.84764	0.561000	0.74099	GAG		0.632	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		4	104	0	0	0	0	4	104				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					uc010dln.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(3)	3						c.(1519-1521)AAA>GAA		ANKRD26-like family B, member 2							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.1_RNA	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1973	-			507			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	103	0	0	0	0	3	103				
ZFR2	23217	broad.mit.edu	37	19	3823275	3823275	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:3823275G>A	ENST00000262961.4	-	8	1350	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CACCGGCTGCGCATCAGAGCA	0.617																																						uc002lyw.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1339-1341)GCG>GTG		zinc finger RNA binding protein 2 isoform 1							87.0	94.0	92.0					19																	3823275		1892	4109	6001	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3823275G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1340C>T	19.37:g.3823275G>A	ENSP00000262961:p.Ala447Val					ZFR2_uc010xhx.1_RNA	p.A447V	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	8	1352	-			447						Missense_Mutation	SNP	ENST00000262961.4	37	c.1340C>T	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	g	0.590	-0.833337	0.02713	.	.	ENSG00000105278	ENST00000262961	T	0.44482	0.92	3.4	-6.8	0.01709	.	1.059780	0.07459	N	0.900261	T	0.15478	0.0373	N	0.11870	0.19	0.09310	N	1	B	0.22080	0.064	B	0.12837	0.008	T	0.31779	-0.9931	10	0.02654	T	1	-0.0185	5.7273	0.18020	0.5182:0.2756:0.2062:0.0	.	447	Q9UPR6	ZFR2_HUMAN	V	447	ENSP00000262961:A447V	ENSP00000262961:A447V	A	-	2	0	ZFR2	3774275	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.475000	0.22164	-1.411000	0.02032	-0.974000	0.02594	GCG		0.617	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		40	68	0	0	0	0	40	68				
SAFB	6294	broad.mit.edu	37	19	5667168	5667168	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:5667168C>G	ENST00000292123.5	+	18	2553	c.2446C>G	c.(2446-2448)Ccc>Gcc	p.P816A	SAFB_ENST00000454510.1_Missense_Mutation_p.P747A|SAFB_ENST00000592224.1_Missense_Mutation_p.P815A|SAFB_ENST00000588852.1_Missense_Mutation_p.P816A|SAFB_ENST00000433404.1_Missense_Mutation_p.P646A|SAFB_ENST00000538656.1_Missense_Mutation_p.P658A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	816	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCTGCCTCCTCCCCCCAGGTT	0.697																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NA																	0				ovary(1)|liver(1)|skin(1)	3						c.(2446-2448)CCC>GCC		scaffold attachment factor B							11.0	14.0	13.0					19																	5667168		2182	4260	6442	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5667168C>G	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2446C>G	19.37:g.5667168C>G	ENSP00000292123:p.Pro816Ala					SAFB_uc002mcg.2_Missense_Mutation_p.P816A|SAFB_uc002mce.3_Missense_Mutation_p.P815A|SAFB_uc010xir.1_Missense_Mutation_p.P815A|SAFB_uc010xis.1_Missense_Mutation_p.P747A|SAFB_uc010xit.1_Missense_Mutation_p.P658A|SAFB_uc010xiu.1_Missense_Mutation_p.P615A	p.P816A	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	18	2499	+			816			Interaction with SAFB2.|Arg-rich.|Gly-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2446C>G	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564006	0.45694	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12774	2.77;2.9;2.65;2.76	5.0	3.97	0.46021	.	0.121611	0.37483	N	0.002076	T	0.19565	0.0470	M	0.78456	2.415	0.24313	N	0.995073	B;B;B;B;B;B;B	0.32101	0.243;0.243;0.356;0.243;0.243;0.243;0.243	B;B;B;B;B;B;B	0.33454	0.055;0.055;0.164;0.079;0.079;0.079;0.079	T	0.11179	-1.0598	10	0.49607	T	0.09	-14.7804	12.0914	0.53728	0.0:0.9204:0.0:0.0796	.	615;658;747;815;816;816;815	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	A	747;711;646;816;658	ENSP00000415895:P747A;ENSP00000404545:P646A;ENSP00000292123:P816A;ENSP00000438880:P658A	ENSP00000292123:P816A	P	+	1	0	SAFB	5618168	0.781000	0.28676	0.102000	0.21198	0.891000	0.51852	4.532000	0.60608	1.470000	0.48102	0.650000	0.86243	CCC		0.697	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			3	22	0	0	0	0	3	22				
ADAMTS10	81794	broad.mit.edu	37	19	8656945	8656945	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:8656945C>G	ENST00000597188.1	-	14	1900	c.1630G>C	c.(1630-1632)Gag>Cag	p.E544Q	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E544Q|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.Q34H	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	544	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCACACCCTCTGGGCGCGAC	0.687																																						uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(1630-1632)GAG>CAG		ADAM metallopeptidase with thrombospondin type 1							26.0	29.0	28.0					19																	8656945		2201	4297	6498	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656945C>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1630G>C	19.37:g.8656945C>G	ENSP00000471851:p.Glu544Gln					ADAMTS10_uc002mki.1_Missense_Mutation_p.Q34H|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E176Q	p.E544Q	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			14	1904	-			544			Disintegrin.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1630G>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313323	0.23908	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.59906	0.23	4.63	3.57	0.40892	.	0.139271	0.47852	D	0.000219	T	0.34658	0.0905	N	0.10760	0.04	0.80722	D	1	B;B	0.21381	0.055;0.017	B;B	0.20184	0.028;0.024	T	0.08351	-1.0726	10	0.13470	T	0.59	.	13.6096	0.62068	0.0:0.8429:0.1571:0.0	.	298;544	Q59FE5;Q9H324	.;ATS10_HUMAN	Q	544;298	ENSP00000270328:E544Q	ENSP00000270328:E544Q	E	-	1	0	ADAMTS10	8562945	1.000000	0.71417	0.539000	0.28077	0.119000	0.20118	4.428000	0.59894	0.904000	0.36572	0.467000	0.42956	GAG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		3	19	0	0	0	0	3	19				
RYR1	6261	broad.mit.edu	37	19	38951142	38951142	+	Silent	SNP	C	C	A	rs142548565		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38951142C>A	ENST00000359596.3	+	20	2488	c.2488C>A	c.(2488-2490)Cgg>Agg	p.R830R	RYR1_ENST00000360985.3_Silent_p.R830R|RYR1_ENST00000355481.4_Silent_p.R830R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R830W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGTATCGACGGGAGGGGCC	0.632																																						uc002oit.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2488-2490)CGG>AGG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						68.0	73.0	71.0					19																	38951142		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38951142C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2488C>A	19.37:g.38951142C>A						RYR1_uc002oiu.2_Silent_p.R830R	p.R830R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2618	+	all_cancers(60;7.91e-06)		830			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2488C>A	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	112	1	0	6.72e-11	7.44e-11	16	112				
RYR1	6261	broad.mit.edu	37	19	38985060	38985060	+	Missense_Mutation	SNP	G	G	A	rs147197176		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38985060G>A	ENST00000359596.3	+	39	6343	c.6343G>A	c.(6343-6345)Gag>Aag	p.E2115K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2115K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2115K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2115	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGAGCCCCGAGCTGGTGCG	0.667																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6343-6345)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	39.0	36.0	37.0		6343,6343	4.8	0.9	19	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2115/5039,2115/5034	38985060	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38985060G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6343G>A	19.37:g.38985060G>A	ENSP00000352608:p.Glu2115Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E2115K|RYR1_uc002oiv.1_5'Flank	p.E2115K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		39	6473	+	all_cancers(60;7.91e-06)		2115			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6343G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137414	0.77775	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96802	-4.13;-4.13;-4.13	4.79	4.79	0.61399	.	0.000000	0.64402	U	0.000002	D	0.96294	0.8791	L	0.55213	1.73	0.52099	D	0.999942	D;D	0.65815	0.995;0.991	P;P	0.54346	0.749;0.566	D	0.94970	0.8116	10	0.25106	T	0.35	.	17.6067	0.88040	0.0:0.0:1.0:0.0	.	2115;2115	P21817-2;P21817	.;RYR1_HUMAN	K	2115	ENSP00000352608:E2115K;ENSP00000347667:E2115K;ENSP00000354254:E2115K	ENSP00000347667:E2115K	E	+	1	0	RYR1	43676900	1.000000	0.71417	0.947000	0.38551	0.854000	0.48673	9.590000	0.98238	2.477000	0.83638	0.313000	0.20887	GAG		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	36	0	0	0	0	3	36				
NAPA	8775	broad.mit.edu	37	19	48018174	48018174	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:48018174C>T	ENST00000263354.3	-	1	323	c.24G>A	c.(22-24)gcG>gcA	p.A8A	NAPA_ENST00000593785.1_5'UTR|NAPA_ENST00000595227.1_Silent_p.A8A	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	8					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCATCGCCTCCGCTTCCTTCC	0.652																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1		NA																	0					0						c.(22-24)GCG>GCA		N-ethylmaleimide-sensitive factor attachment							47.0	42.0	44.0					19																	48018174		2203	4300	6503	SO:0001819	synonymous_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:48018174C>T	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.24G>A	19.37:g.48018174C>T						NAPA_uc002phb.1_Silent_p.A8A|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Silent_p.A8A|NAPA_uc010elf.1_5'UTR|NAPA_uc010elg.1_RNA|NAPA_uc002phe.2_Silent_p.A8A	p.A8A	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	1	324	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	8					A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	c.24G>A	CCDS12702.1																																																																																				0.652	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		16	18	0	0	0	0	16	18				
ADCY3	109	broad.mit.edu	37	2	25043595	25043595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:25043595G>A	ENST00000260600.5	-	20	4101	c.3250C>T	c.(3250-3252)Cag>Tag	p.Q1084*	ADCY3_ENST00000405392.1_Nonsense_Mutation_p.Q671*|CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1084					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGACATACCTGAATGTTGCCC	0.597																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(3250-3252)CAG>TAG		adenylate cyclase 3							178.0	138.0	151.0					2																	25043595		2203	4300	6503	SO:0001587	stop_gained	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25043595G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3250C>T	2.37:g.25043595G>A	ENSP00000260600:p.Gln1084*					ADCY3_uc002rfr.3_Nonsense_Mutation_p.Q671*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.Q1085*	p.Q1084*	NM_004036	NP_004027	O60266	ADCY3_HUMAN			20	3449	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1084			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Nonsense_Mutation	SNP	ENST00000260600.5	37	c.3250C>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	49	15.419226	0.99833	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9359	0.97142	0.0:0.0:1.0:0.0	.	.	.	.	X	1084;671;1059	.	ENSP00000260600:Q1084X	Q	-	1	0	ADCY3	24897099	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	CAG		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			9	73	0	0	0	0	9	73				
NDUFAF7	55471	broad.mit.edu	37	2	37474742	37474742	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:37474742A>T	ENST00000002125.4	+	9	1120	c.1080A>T	c.(1078-1080)ttA>ttT	p.L360F	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L262F	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	360					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										ACACATTTTTAAAAAATATGG	0.343																																						uc002rqa.3		NA																	0				central_nervous_system(1)	1						c.(1078-1080)TTA>TTT		hypothetical protein LOC55471 isoform 1							63.0	65.0	64.0					2																	37474742		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37474742A>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.1080A>T	2.37:g.37474742A>T	ENSP00000002125:p.Leu360Phe					C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.L262F|C2orf56_uc010ynk.1_Missense_Mutation_p.L289F|C2orf56_uc010ynl.1_Missense_Mutation_p.L333F|C2orf56_uc010fah.2_RNA	p.L360F	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			9	1155	+		all_hematologic(82;0.21)	360					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.1080A>T	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068870	0.76301	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	D;D	0.90955	-2.76;-2.76	5.76	2.18	0.27775	.	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.83852	2.665	0.80722	D	1	D;D;D;D	0.71674	0.998;0.985;0.996;0.998	D;P;D;D	0.69479	0.948;0.831;0.957;0.964	D	0.92237	0.5797	9	.	.	.	-8.3916	8.464	0.32944	0.6358:0.0:0.3642:0.0	.	333;289;262;360	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	F	360;262	ENSP00000002125:L360F;ENSP00000337431:L262F	.	L	+	3	2	C2orf56	37328246	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	2.729000	0.47327	0.465000	0.27167	0.533000	0.62120	TTA		0.343	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		9	51	0	0	0	0	9	51				
GFPT1	2673	broad.mit.edu	37	2	69565126	69565126	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:69565126C>T	ENST00000357308.4	-	15	1564	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V	GFPT1_ENST00000361060.5_Silent_p.V444V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	462	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTGTGATCCCCACAGTTAAAG	0.448																																						uc002sfh.2		NA																	0				skin(1)	1						c.(1330-1332)GTG>GTA		glucosamine-fructose-6-phosphate							268.0	224.0	239.0					2																	69565126		2203	4300	6503	SO:0001819	synonymous_variant	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69565126C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1386G>A	2.37:g.69565126C>T							p.V444V	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			14	1511	-			462			SIS 1.		Q53QE6|Q9BXF8	Silent	SNP	ENST00000357308.4	37	c.1332G>A	CCDS58713.1																																																																																				0.448	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				52	90	0	0	0	0	52	90				
NCKAP5	344148	broad.mit.edu	37	2	133489551	133489551	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:133489551C>T	ENST00000409261.1	-	17	5575	c.5202G>A	c.(5200-5202)tcG>tcA	p.S1734S	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Silent_p.S1734S|NCKAP5_ENST00000405974.3_Silent_p.S415S|NCKAP5_ENST00000409213.1_Silent_p.S415S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1734								p.S254S(1)|p.S1734S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCGTCCTGTCGAGCGATTTC	0.547																																						uc002ttp.2		NA																	2	Substitution - coding silent(2)		endometrium(2)		0						c.(5200-5202)TCG>TCA		Nck-associated protein 5 isoform 1							83.0	91.0	88.0					2																	133489551		2063	4198	6261	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133489551C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5202G>A	2.37:g.133489551C>T						NCKAP5_uc002ttq.2_Silent_p.S415S	p.S1734S	NM_207363	NP_997246	O14513	NCKP5_HUMAN			17	5576	-			1734					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.5202G>A	CCDS46418.1																																																																																				0.547	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	35	0	0	0	0	4	35				
ZAK	51776	broad.mit.edu	37	2	174104208	174104208	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:174104208C>G	ENST00000375213.3	+	16	1421	c.1343C>G	c.(1342-1344)cCa>cGa	p.P448R	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P448R|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		448					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CACTTGAAACCAGGAACTGGC	0.388																																						uc002uhz.2		NA																	0				lung(3)|stomach(1)|ovary(1)|skin(1)	6						c.(1342-1344)CCA>CGA		MLK-related kinase isoform 1							59.0	60.0	59.0					2																	174104208		1811	4067	5878	SO:0001583	missense	51776				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr2:174104208C>G																												ENST00000375213.3:c.1343C>G	2.37:g.174104208C>G	ENSP00000364361:p.Pro448Arg					uc002uib.2_Intron	p.P448R	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		16	1543	+			448					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.1343C>G	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249076	0.39797	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74842	-0.88;-0.88	5.45	5.45	0.79879	.	0.106561	0.64402	D	0.000004	T	0.68622	0.3021	N	0.24115	0.695	0.80722	D	1	P	0.50272	0.933	P	0.48030	0.564	T	0.72928	-0.4143	10	0.66056	D	0.02	.	14.8842	0.70555	0.0:0.929:0.0:0.071	.	448	Q9NYL2	MLTK_HUMAN	R	448	ENSP00000387259:P448R;ENSP00000364361:P448R	ENSP00000364361:P448R	P	+	2	0	AC013461.1	173812454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.683000	0.54663	2.697000	0.92050	0.643000	0.83706	CCA		0.388	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			8	48	0	0	0	0	8	48				
TTN	7273	broad.mit.edu	37	2	179437281	179437281	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179437281C>T	ENST00000591111.1	-	276	68879	c.68655G>A	c.(68653-68655)ctG>ctA	p.L22885L	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L21958L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.L24526L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.L15653L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L15586L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.L15461L			Q8WZ42	TITIN_HUMAN	titin	22885	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTACCTTCAGATCCTGTG	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(65872-65874)CTG>CTA		titin isoform N2-A							67.0	67.0	67.0					2																	179437281		1900	4112	6012	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437281C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68655G>A	2.37:g.179437281C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L15653L|TTN_uc010zfi.1_Silent_p.L15586L|TTN_uc010zfj.1_Silent_p.L15461L	p.L21958L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66098	-			22885					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.65874G>A																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	70	0	0	0	0	6	70				
TTN	7273	broad.mit.edu	37	2	179595271	179595271	+	Missense_Mutation	SNP	C	C	G	rs72648946	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179595271C>G	ENST00000591111.1	-	59	17262	c.17038G>C	c.(17038-17040)Gca>Cca	p.A5680P	TTN_ENST00000342992.6_Missense_Mutation_p.A4753P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A5997P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12488	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGCCCTGCCTTATTTGTG	0.383																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14257-14259)GCA>CCA		titin isoform N2-A							121.0	118.0	119.0					2																	179595271		1946	4130	6076	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595271C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17038G>C	2.37:g.179595271C>G	ENSP00000465570:p.Ala5680Pro					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1414P	p.A4753P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	14481	-			5680					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14257G>C		.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87759	0.6258	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	D	0.90311	0.4337	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	5680	Q8WZ42	TITIN_HUMAN	P	4753	ENSP00000343764:A4753P	ENSP00000343764:A4753P	A	-	1	0	TTN	179303516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	113	0	0	0	0	13	113				
ZDBF2	57683	broad.mit.edu	37	2	207174876	207174876	+	Missense_Mutation	SNP	A	A	G	rs201770559		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207174876A>G	ENST00000374423.3	+	5	6010	c.5624A>G	c.(5623-5625)aAg>aGg	p.K1875R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1875							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGGAAAAAAAAGGTTACCTGG	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		21259	0.0		0.001	False		,,,				2504	0.0					uc002vbp.2		NA																	0				ovary(3)	3						c.(5623-5625)AAG>AGG		zinc finger, DBF-type containing 2							58.0	57.0	57.0					2																	207174876		1925	4138	6063	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174876A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5624A>G	2.37:g.207174876A>G	ENSP00000363545:p.Lys1875Arg						p.K1875R	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	5874	+			1875					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5624A>G	CCDS46501.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	11.10	1.538694	0.27475	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	4.75	-0.0528	0.13820	.	.	.	.	.	T	0.31327	0.0793	N	0.21448	0.665	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.21518	-1.0243	9	0.37606	T	0.19	.	9.4869	0.38935	0.6154:0.0:0.3846:0.0	.	1875	Q9HCK1	ZDBF2_HUMAN	R	1875	ENSP00000363545:K1875R	ENSP00000363545:K1875R	K	+	2	0	ZDBF2	206883121	0.000000	0.05858	0.001000	0.08648	0.142000	0.21351	0.409000	0.21082	-0.015000	0.14150	-0.333000	0.08304	AAG		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	44	0	0	0	0	8	44				
MDH1B	130752	broad.mit.edu	37	2	207615717	207615717	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207615717C>T	ENST00000374412.3	-	6	1268	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MDH1B_ENST00000454776.2_Silent_p.E331E|MDH1B_ENST00000449792.1_Silent_p.E233E|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	331					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGGCACTCTCATATCTGT	0.353																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(991-993)GAG>GAA		malate dehydrogenase 1B, NAD (soluble)							125.0	125.0	125.0					2																	207615717		2203	4299	6502	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615717C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.993G>A	2.37:g.207615717C>T						MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.E331E|MDH1B_uc010fuj.2_Silent_p.E233E|MDH1B_uc002vbt.2_Intron	p.E331E	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1048	-			331					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.993G>A	CCDS33365.1																																																																																				0.353	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		11	69	0	0	0	0	11	69				
MAVS	57506	broad.mit.edu	37	20	3844977	3844977	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:3844977A>C	ENST00000428216.2	+	6	828	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	MAVS_ENST00000416600.2_Missense_Mutation_p.T93P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	234					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGTTCCACCCCCAGGGC	0.632																																						uc002wjw.3		NA																	0					0						c.(700-702)ACC>CCC		virus-induced signaling adapter							70.0	67.0	68.0					20																	3844977		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844977A>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.700A>C	20.37:g.3844977A>C	ENSP00000401980:p.Thr234Pro					MAVS_uc002wjx.3_Missense_Mutation_p.T93P|MAVS_uc002wjy.3_5'UTR	p.T234P	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			6	869	+			234			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.700A>C	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435402	0.62955	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.38077	1.16;2.2	4.51	0.838	0.18902	.	0.596788	0.15492	N	0.259490	T	0.35595	0.0937	L	0.38175	1.15	0.09310	N	0.999992	D	0.54964	0.969	P	0.58454	0.839	T	0.13683	-1.0500	10	0.30078	T	0.28	-3.2678	3.4782	0.07593	0.5779:0.2013:0.2208:0.0	.	234	Q7Z434	MAVS_HUMAN	P	93;234	ENSP00000413749:T93P;ENSP00000401980:T234P	ENSP00000413749:T93P	T	+	1	0	MAVS	3792977	0.004000	0.15560	0.439000	0.26833	0.997000	0.91878	0.946000	0.29069	0.033000	0.15463	0.529000	0.55759	ACC		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		8	73	0	0	0	0	8	73				
FITM2	128486	broad.mit.edu	37	20	42935537	42935537	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:42935537G>A	ENST00000396825.3	-	2	537	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	173					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						ACCTCATGCAGCACAGACATC	0.557																																						uc002xlr.1		NA																	0				skin(2)	2						c.(517-519)CTG>TTG		fat storage-inducing transmembrane protein 2							102.0	79.0	87.0					20																	42935537		2203	4300	6503	SO:0001819	synonymous_variant	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935537G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.517C>T	20.37:g.42935537G>A							p.L173L	NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN			2	618	-			173			Cytoplasmic (Potential).		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	ENST00000396825.3	37	c.517C>T	CCDS33473.1																																																																																				0.557	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		3	38	0	0	0	0	3	38				
TSHZ2	128553	broad.mit.edu	37	20	51871898	51871898	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:51871898T>C	ENST00000371497.5	+	2	2788	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.F631S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.F631S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	634					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCGATTCTTTCCGCAAAAGT	0.517																																						uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1900-1902)TTC>TCC		teashirt zinc finger homeobox 2							62.0	66.0	65.0					20																	51871898		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871898T>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1901T>C	20.37:g.51871898T>C	ENSP00000360552:p.Phe634Ser						p.F634S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2857	+			634					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1901T>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	0.968	-0.701222	0.03255	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38722	1.12;1.12	5.24	4.12	0.48240	.	0.327188	0.34603	N	0.003834	T	0.20941	0.0504	N	0.12182	0.205	0.40925	D	0.984346	B	0.02656	0.0	B	0.04013	0.001	T	0.06734	-1.0810	10	0.13853	T	0.58	-2.7215	7.5329	0.27693	0.0:0.0744:0.1435:0.7821	.	634	Q9NRE2	TSH2_HUMAN	S	634;631;160	ENSP00000360552:F634S;ENSP00000333114:F631S	ENSP00000333114:F631S	F	+	2	0	TSHZ2	51305305	0.994000	0.37717	0.924000	0.36721	0.025000	0.11179	0.810000	0.27183	0.808000	0.34231	0.523000	0.50628	TTC		0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		20	92	0	0	0	0	20	92				
INPP5J	27124	broad.mit.edu	37	22	31529912	31529912	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:31529912C>T	ENST00000331075.5	+	13	2577	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	INPP5J_ENST00000402238.1_Missense_Mutation_p.S182F|INPP5J_ENST00000404453.1_Missense_Mutation_p.S208F|INPP5J_ENST00000404390.3_Missense_Mutation_p.S475F|INPP5J_ENST00000412277.2_Missense_Mutation_p.S776F|INPP5J_ENST00000401755.1_Missense_Mutation_p.S208F|INPP5J_ENST00000400294.2_Missense_Mutation_p.S476F|INPP5J_ENST00000405300.1_Missense_Mutation_p.S476F	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	843	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TCGCTGCCTTCCTCGGAGTTG	0.652																																						uc003aju.3		NA																	0				skin(1)	1						c.(2527-2529)TCC>TTC		phosphatidylinositol (4,5) bisphosphate							31.0	34.0	33.0					22																	31529912		2151	4254	6405	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31529912C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2528C>T	22.37:g.31529912C>T	ENSP00000333262:p.Ser843Phe					INPP5J_uc003ajv.3_Missense_Mutation_p.S476F|INPP5J_uc003ajs.3_Missense_Mutation_p.S476F|INPP5J_uc011alk.1_Missense_Mutation_p.S776F|INPP5J_uc010gwg.2_Missense_Mutation_p.S408F|INPP5J_uc003ajw.2_3'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.S475F|INPP5J_uc003ajx.2_Missense_Mutation_p.S208F|INPP5J_uc003ajy.2_Missense_Mutation_p.S182F|INPP5J_uc003ajz.2_Missense_Mutation_p.S283F	p.S843F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			13	2620	+			843			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2528C>T		.	.	.	.	.	.	.	.	.	.	C	14.04	2.416759	0.42918	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.98649	-4.45;-4.44;-5.05;-5.05;-5.04;-4.9;-3.92;-3.92	5.54	5.54	0.83059	.	0.357496	0.26424	N	0.024445	D	0.96525	0.8866	L	0.38175	1.15	0.28937	N	0.89125	P;B;P;B	0.38642	0.547;0.162;0.641;0.25	B;B;B;B	0.37888	0.26;0.084;0.133;0.241	D	0.94662	0.7849	10	0.59425	D	0.04	.	13.2535	0.60066	0.159:0.841:0.0:0.0	.	476;182;843;475	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	F	843;776;476;476;475;182;208;208	ENSP00000333262:S843F;ENSP00000392924:S776F;ENSP00000383150:S476F;ENSP00000384596:S476F;ENSP00000384534:S475F;ENSP00000385264:S182F;ENSP00000385343:S208F;ENSP00000384540:S208F	ENSP00000333262:S843F	S	+	2	0	INPP5J	29859912	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.360000	0.44151	2.610000	0.88304	0.655000	0.94253	TCC		0.652	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		6	12	0	0	0	0	6	12				
PACSIN2	11252	broad.mit.edu	37	22	43308053	43308053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:43308053C>A	ENST00000263246.3	-	2	235	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.E12*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	12	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGGACACTTCTACTCCAACG	0.468																																						uc010gzg.2		NA																	0					0						c.(34-36)GAA>TAA		protein kinase C and casein kinase substrate in							81.0	79.0	80.0					22																	43308053		1902	4108	6010	SO:0001587	stop_gained	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43308053C>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.34G>T	22.37:g.43308053C>A	ENSP00000263246:p.Glu12*					PACSIN2_uc003bdg.3_Nonsense_Mutation_p.E12*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.E12*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.E12*	p.E12*	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			2	256	-		Glioma(61;0.222)	12			FCH.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Nonsense_Mutation	SNP	ENST00000263246.3	37	c.34G>T	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	37	6.602630	0.97697	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336;ENST00000453079	.	.	.	5.65	5.65	0.86999	.	0.049079	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.1225	15.093	0.72211	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000263246:E12X	E	-	1	0	PACSIN2	41637997	0.993000	0.37304	0.994000	0.49952	0.993000	0.82548	3.980000	0.56895	2.941000	0.99782	0.655000	0.94253	GAA		0.468	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		7	44	1	0	8.13e-05	8.78e-05	7	44				
TTLL8	164714	broad.mit.edu	37	22	50479626	50479626	+	Missense_Mutation	SNP	C	C	T	rs534081364		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:50479626C>T	ENST00000266182.6	-	8	910	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	326	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTGCCTGTCTCGGGCTGTGGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18491	0.0		0.0	False		,,,				2504	0.0					uc011ark.1		NA																	0				ovary(2)	2						c.(910-912)CGA>CAA		tubulin tyrosine ligase-like family, member 8							105.0	118.0	114.0					22																	50479626		1950	4139	6089	SO:0001583	missense	164714							g.chr22:50479626C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.911G>A	22.37:g.50479626C>T	ENSP00000266182:p.Arg304Gln						p.R304Q	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	8	911	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.911G>A		.	.	.	.	.	.	.	.	.	.	C	4.804	0.149419	0.09185	.	.	ENSG00000138892	ENST00000266182	T	0.04049	3.72	1.77	-3.54	0.04653	.	3.208060	0.02640	N	0.105208	T	0.03263	0.0095	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	9	0.32370	T	0.25	.	2.6398	0.04968	0.4542:0.2416:0.0:0.3042	.	304	B5MDV0	.	Q	304	ENSP00000266182:R304Q	ENSP00000266182:R304Q	R	-	2	0	TTLL8	48821753	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.123000	0.00594	-1.348000	0.02205	-0.347000	0.07816	CGA		0.567	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		4	79	0	0	0	0	4	79				
FANCD2	2177	broad.mit.edu	37	3	10088287	10088287	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:10088287C>T	ENST00000419585.1	+	15	1319	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	FANCD2_ENST00000383806.1_Silent_p.F386F|FANCD2_ENST00000287647.3_Silent_p.F386F|FANCD2_ENST00000383807.1_Silent_p.F386F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	386					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGATGCTTTTCATCATCTATA	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1156-1158)TTC>TTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							120.0	109.0	113.0					3																	10088287		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10088287C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1158C>T	3.37:g.10088287C>T						FANCD2_uc003bux.1_Silent_p.F386F|FANCD2_uc003buy.1_Silent_p.F386F|FANCD2_uc010hcw.1_5'Flank	p.F386F	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1236	+			386					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.1158C>T	CCDS33696.1																																																																																				0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	39	0	0	0	0	6	39				
SETD2	29072	broad.mit.edu	37	3	47164195	47164195	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164195T>A	ENST00000409792.3	-	3	1973	c.1931A>T	c.(1930-1932)gAt>gTt	p.D644V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	644					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCATGGCTATCATGTGTTAT	0.313			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(1930-1932)GAT>GTT		SET domain containing 2							44.0	48.0	47.0					3																	47164195		2201	4297	6498	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164195T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1931A>T	3.37:g.47164195T>A	ENSP00000386759:p.Asp644Val					SETD2_uc003cqv.2_Missense_Mutation_p.D633V	p.D644V	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1984	-		Acute lymphoblastic leukemia(5;0.0169)	644					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1931A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806456	0.50421	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90620	-2.7;1.16	5.36	5.36	0.76844	.	0.212818	0.32671	N	0.005794	D	0.84710	0.5532	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.50710	0.938;0.808	B;B	0.41860	0.368;0.368	D	0.87550	0.2464	10	0.72032	D	0.01	.	15.5123	0.75793	0.0:0.0:0.0:1.0	.	644;644	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	644;644;644;600	ENSP00000386759:D644V;ENSP00000416401:D600V	ENSP00000386759:D644V	D	-	2	0	SETD2	47139199	1.000000	0.71417	0.995000	0.50966	0.816000	0.46133	2.975000	0.49281	2.248000	0.74166	0.533000	0.62120	GAT		0.313	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		4	64	0	0	0	0	4	64				
SETD2	29072	broad.mit.edu	37	3	47164342	47164342	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164342G>A	ENST00000409792.3	-	3	1826	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	595					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTACCTTTTGAACAAGGTGT	0.308			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(1783-1785)TCA>TTA		SET domain containing 2							38.0	43.0	41.0					3																	47164342		2182	4289	6471	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164342G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1784C>T	3.37:g.47164342G>A	ENSP00000386759:p.Ser595Leu					SETD2_uc003cqv.2_Missense_Mutation_p.S584L	p.S595L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1837	-		Acute lymphoblastic leukemia(5;0.0169)	595					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1784C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998572	0.19121	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89343	-2.5;1.35	5.43	4.56	0.56223	.	0.145674	0.32301	N	0.006300	T	0.74382	0.3709	N	0.12182	0.205	0.34323	D	0.686809	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.69300	-0.5181	10	0.20519	T	0.43	.	4.4994	0.11856	0.2142:0.182:0.6038:0.0	.	595;595	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	595;595;595;551	ENSP00000386759:S595L;ENSP00000416401:S551L	ENSP00000386759:S595L	S	-	2	0	SETD2	47139346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.356000	0.52269	1.525000	0.49052	0.650000	0.86243	TCA		0.308	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	45	0	0	0	0	8	45				
ATR	545	broad.mit.edu	37	3	142285095	142285095	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:142285095C>G	ENST00000350721.4	-	3	281	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	ATR_ENST00000383101.3_Missense_Mutation_p.E54Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	54					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTACAAGTTCTACAGCAACT	0.388								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(160-162)GAA>CAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							66.0	65.0	65.0					3																	142285095		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142285095C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.160G>C	3.37:g.142285095C>G	ENSP00000343741:p.Glu54Gln						p.E54Q	NM_001184	NP_001175	Q13535	ATR_HUMAN			3	282	-			54					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.160G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372100	0.82573	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.35605	1.3;1.3	5.4	5.4	0.78164	.	0.062480	0.64402	D	0.000005	T	0.50480	0.1618	L	0.45137	1.4	0.38976	D	0.958848	D	0.71674	0.998	P	0.59115	0.852	T	0.54689	-0.8256	10	0.87932	D	0	-8.8933	18.7786	0.91922	0.0:1.0:0.0:0.0	.	54	Q13535	ATR_HUMAN	Q	54	ENSP00000343741:E54Q;ENSP00000372581:E54Q	ENSP00000343741:E54Q	E	-	1	0	ATR	143767785	1.000000	0.71417	0.955000	0.39395	0.928000	0.56348	6.741000	0.74837	2.530000	0.85305	0.467000	0.42956	GAA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		3	48	0	0	0	0	3	48				
HLTF	6596	broad.mit.edu	37	3	148768099	148768099	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:148768099C>G	ENST00000310053.5	-	15	1730	c.1537G>C	c.(1537-1539)Gat>Cat	p.D513H	HLTF_ENST00000392912.2_Missense_Mutation_p.D513H|HLTF_ENST00000494055.1_Missense_Mutation_p.D513H|HLTF_ENST00000465259.1_Missense_Mutation_p.D512H	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	513	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAATACGATCAGGACCATAA	0.299																																						uc003ewq.1		NA																	0				ovary(1)	1						c.(1537-1539)GAT>CAT		helicase-like transcription factor							68.0	70.0	70.0					3																	148768099		2202	4290	6492	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148768099C>G	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1537G>C	3.37:g.148768099C>G	ENSP00000308944:p.Asp513His					HLTF_uc003ewr.1_Missense_Mutation_p.D513H|HLTF_uc003ews.1_Missense_Mutation_p.D512H|HLTF_uc010hve.1_Missense_Mutation_p.D512H	p.D513H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	1755	-			513			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1537G>C	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774138	0.90108	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.75	5.75	0.90469	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.95430	0.8516	M	0.64676	1.99	0.58432	D	0.999991	D;D;D	0.76494	0.991;0.999;0.996	D;D;D	0.72625	0.917;0.978;0.959	D	0.95420	0.8506	9	0.72032	D	0.01	0.0342	18.709	0.91649	0.0:1.0:0.0:0.0	.	513;513;513	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	H	512;513;513;513	ENSP00000420745:D512H;ENSP00000308944:D513H;ENSP00000376644:D513H;ENSP00000420429:D513H	ENSP00000308944:D513H	D	-	1	0	HLTF	150250789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.780000	0.75063	2.717000	0.92951	0.650000	0.86243	GAT		0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			6	114	0	0	0	0	6	114				
SI	6476	broad.mit.edu	37	3	164724661	164724661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:164724661A>C	ENST00000264382.3	-	37	4411	c.4349T>G	c.(4348-4350)gTt>gGt	p.V1450G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1450	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAATGCAAAACTGATGTTCC	0.358										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4348-4350)GTT>GGT		sucrase-isomaltase	Acarbose(DB00284)						128.0	114.0	119.0					3																	164724661		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724661A>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4349T>G	3.37:g.164724661A>C	ENSP00000264382:p.Val1450Gly	HNSCC(35;0.089)					p.V1450G	NM_001041	NP_001032	P14410	SUIS_HUMAN			37	4411	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1450			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4349T>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950345	0.53186	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.62	5.62	0.85841	Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95765	0.8622	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96230	0.9167	10	0.87932	D	0	.	14.7915	0.69846	1.0:0.0:0.0:0.0	.	1450	P14410	SUIS_HUMAN	G	1450	ENSP00000264382:V1450G	ENSP00000264382:V1450G	V	-	2	0	SI	166207355	1.000000	0.71417	0.581000	0.28614	0.107000	0.19398	6.566000	0.73978	2.139000	0.66308	0.397000	0.26171	GTT		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	32	0	0	0	0	10	32				
STX18	53407	broad.mit.edu	37	4	4543567	4543567	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:4543567C>T	ENST00000306200.2	-	1	188	c.125G>A	c.(124-126)aGc>aAc	p.S42N	STX18-AS1_ENST00000512438.1_RNA|STX18-AS1_ENST00000502693.1_RNA|STX18_ENST00000505286.1_Missense_Mutation_p.S42N|STX18-AS1_ENST00000610009.1_RNA|STX18-AS1_ENST00000514763.1_RNA|STX18-AS1_ENST00000499430.2_RNA|STX18-AS1_ENST00000507244.1_RNA	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	42					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGGCCGGGGGCTCCGGCGGAA	0.701																																						uc003gic.2		NA																	0					0						c.(124-126)AGC>AAC		syntaxin 18							13.0	16.0	15.0					4																	4543567		2193	4284	6477	SO:0001583	missense	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4543567C>T	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.125G>A	4.37:g.4543567C>T	ENSP00000305810:p.Ser42Asn					uc003gid.2_5'Flank	p.S42N	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	1	209	-			42			Cytoplasmic (Potential).		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	c.125G>A	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688728	0.48097	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.31510	1.49;1.49	4.95	3.2	0.36748	SNARE-complex protein Syntaxin-18 N-terminal (1);	0.316910	0.34531	N	0.003892	T	0.19366	0.0465	N	0.21282	0.65	0.38591	D	0.950425	B	0.09022	0.002	B	0.14023	0.01	T	0.06734	-1.0810	10	0.31617	T	0.26	-10.2885	9.6666	0.39988	0.0:0.766:0.155:0.0791	.	42	Q9P2W9	STX18_HUMAN	N	42	ENSP00000426648:S42N;ENSP00000305810:S42N	ENSP00000305810:S42N	S	-	2	0	STX18	4594468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.258000	0.43249	0.657000	0.30906	0.561000	0.74099	AGC		0.701	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			3	18	0	0	0	0	3	18				
SHROOM3	57619	broad.mit.edu	37	4	77476765	77476765	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:77476765G>A	ENST00000296043.6	+	2	1125	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	58	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(172-174)GAA>AAA		shroom family member 3 protein							68.0	70.0	69.0					4																	77476765		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476765G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.172G>A	4.37:g.77476765G>A	ENSP00000296043:p.Glu58Lys						p.E58K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1125	+			58			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.172G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459227	0.63401	.	.	ENSG00000138771	ENST00000296043	T	0.27256	1.68	4.8	3.02	0.34903	PDZ/DHR/GLGF (4);	0.690165	0.12621	N	0.453023	T	0.22085	0.0532	L	0.46670	1.46	0.33544	D	0.595259	P	0.38504	0.634	B	0.35312	0.2	T	0.27054	-1.0085	10	0.49607	T	0.09	-4.3932	9.1691	0.37069	0.0798:0.1462:0.774:0.0	.	58	Q8TF72	SHRM3_HUMAN	K	58	ENSP00000296043:E58K	ENSP00000296043:E58K	E	+	1	0	SHROOM3	77695789	1.000000	0.71417	0.819000	0.32651	0.095000	0.18619	6.323000	0.72891	0.658000	0.30925	0.467000	0.42956	GAA		0.602	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	36	0	0	0	0	5	36				
LRBA	987	broad.mit.edu	37	4	151392835	151392835	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:151392835C>T	ENST00000357115.3	-	44	6884	c.6641G>A	c.(6640-6642)cGa>cAa	p.R2214Q	LRBA_ENST00000510413.1_Missense_Mutation_p.R2203Q|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.R2203Q|LRBA_ENST00000535741.1_Missense_Mutation_p.R2203Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2214	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTGTTGCCATCGCTGGGTCAT	0.328																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6640-6642)CGA>CAA		LPS-responsive vesicle trafficking, beach and							118.0	119.0	119.0					4																	151392835		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151392835C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6641G>A	4.37:g.151392835C>T	ENSP00000349629:p.Arg2214Gln					LRBA_uc003ils.3_Missense_Mutation_p.R104Q|LRBA_uc003ilt.3_Missense_Mutation_p.R862Q|LRBA_uc003ilu.3_Missense_Mutation_p.R2203Q	p.R2214Q	NM_006726	NP_006717	P50851	LRBA_HUMAN			44	7115	-	all_hematologic(180;0.151)		2214			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6641G>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.653051|5.653051	0.96724|0.96724	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.80393	.|-1.37;-1.37;-1.37;-1.37	5.28|5.28	5.28|5.28	0.74379|0.74379	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86924|0.86924	0.6050|0.6050	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.89917	.|1.0;0.951;1.0	.|D;B;D	.|0.91635	.|0.96;0.231;0.999	D|D	0.86806|0.86806	0.1995|0.1995	5|10	.|0.51188	.|T	.|0.08	.|.	18.0374|18.0374	0.89308|0.89308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2214;2203;104	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	N|Q	856|2203;2203;2214;2203	.|ENSP00000446299:R2203Q;ENSP00000421552:R2203Q;ENSP00000349629:R2214Q;ENSP00000422180:R2203Q	.|ENSP00000349629:R2214Q	D|R	-|-	1|2	0|0	LRBA|LRBA	151612285|151612285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.868000|5.868000	0.69605|0.69605	2.608000|2.608000	0.88229|0.88229	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			11	100	0	0	0	0	11	100				
FGA	2243	broad.mit.edu	37	4	155506821	155506821	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:155506821G>A	ENST00000302053.3	-	5	1838	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	FGA_ENST00000403106.3_Missense_Mutation_p.T587M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	587					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTGTAACTCGTGCTACTAGT	0.433																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(1759-1761)ACG>ATG		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						129.0	124.0	126.0					4																	155506821		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506821G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1760C>T	4.37:g.155506821G>A	ENSP00000306361:p.Thr587Met					FGA_uc003ioe.1_Missense_Mutation_p.T587M|FGA_uc003iof.1_3'UTR	p.T587M	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1818	-	all_hematologic(180;0.215)	Renal(120;0.0458)	587			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1760C>T	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.792522|2.792522	0.50102|0.50102	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.57595	.|0.39;2.81	4.89|4.89	-8.23|-8.23	0.01033|0.01033	.|.	.|2.727480	.|0.01033	.|N	.|0.004164	.|T	.|0.32645	.|0.0836	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B;B	.|0.34181	.|0.44;0.313	.|B;B	.|0.24974	.|0.057;0.017	.|T	.|0.22906	.|-1.0203	.|10	0.02654|0.49607	T|T	1|0.09	.|.	1.5893|1.5893	0.02650|0.02650	0.1607:0.1688:0.3026:0.3678|0.1607:0.1688:0.3026:0.3678	.|.	.|587;587	.|P02671-2;P02671	.|.;FIBA_HUMAN	X|M	229|587	.|ENSP00000306361:T587M;ENSP00000385981:T587M	ENSP00000407891:R229X|ENSP00000306361:T587M	R|T	-|-	1|2	2|0	FGA|FGA	155726271|155726271	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.185000|-0.185000	0.09684|0.09684	-1.328000|-1.328000	0.02261|0.02261	-0.152000|-0.152000	0.13540|0.13540	CGA|ACG		0.433	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		28	75	0	0	0	0	28	75				
GRIA2	2891	broad.mit.edu	37	4	158242702	158242702	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:158242702C>T	ENST00000264426.9	+	6	1112	c.833C>T	c.(832-834)tCa>tTa	p.S278L	GRIA2_ENST00000296526.7_Missense_Mutation_p.S278L|GRIA2_ENST00000449365.1_Missense_Mutation_p.S231L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S231L|GRIA2_ENST00000393815.2_Missense_Mutation_p.S231L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	278					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S278L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAAGATGGTCAACACTGGAA	0.368																																						uc003ipm.3		NA																	2	Substitution - Missense(2)		endometrium(2)	central_nervous_system(3)|ovary(1)	4						c.(832-834)TCA>TTA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						140.0	150.0	146.0					4																	158242702		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158242702C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.833C>T	4.37:g.158242702C>T	ENSP00000264426:p.Ser278Leu					GRIA2_uc011cit.1_Missense_Mutation_p.S231L|GRIA2_uc003ipl.3_Missense_Mutation_p.S278L|GRIA2_uc003ipk.3_Missense_Mutation_p.S231L|GRIA2_uc010iqh.1_RNA	p.S278L	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	6	1292	+	all_hematologic(180;0.24)	Renal(120;0.0458)	278			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.833C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681576	0.47991	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.46	4.59	0.56863	Extracellular ligand-binding receptor (1);	0.152072	0.44688	D	0.000423	T	0.67097	0.2857	N	0.08118	0	0.50467	D	0.999874	P;B;P	0.38800	0.648;0.003;0.561	B;B;B	0.32928	0.155;0.001;0.154	T	0.71434	-0.4594	10	0.54805	T	0.06	.	15.3238	0.74144	0.1409:0.8591:0.0:0.0	.	278;278;231	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	L	231;231;278;278;231	ENSP00000426845:S231L;ENSP00000377403:S231L;ENSP00000296526:S278L;ENSP00000264426:S278L;ENSP00000389837:S231L	ENSP00000264426:S278L	S	+	2	0	GRIA2	158462152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.790000	0.69038	1.227000	0.43598	0.591000	0.81541	TCA		0.368	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			10	91	0	0	0	0	10	91				
DDX60L	91351	broad.mit.edu	37	4	169300950	169300950	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:169300950G>C	ENST00000511577.1	-	31	4395	c.4148C>G	c.(4147-4149)tCt>tGt	p.S1383C	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1383C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1383							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTCTTAAAAGACAGCAATGA	0.323																																						uc003irq.3		NA																	0				ovary(1)	1						c.(4147-4149)TCT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							74.0	71.0	72.0					4																	169300950		1852	4112	5964	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300950G>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4148C>G	4.37:g.169300950G>C	ENSP00000422423:p.Ser1383Cys						p.S1383C	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	31	4369	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1383					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4148C>G		.	.	.	.	.	.	.	.	.	.	G	11.57	1.678259	0.29783	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.20881	2.04;2.04	3.51	1.66	0.24008	.	.	.	.	.	T	0.39911	0.1096	M	0.77820	2.39	0.21627	N	0.999612	D	0.76494	0.999	P	0.62740	0.906	T	0.15206	-1.0445	9	0.40728	T	0.16	.	8.2312	0.31599	0.0932:0.1571:0.7496:0.0	.	1383	Q5H9U9	DDX6L_HUMAN	C	1383	ENSP00000260184:S1383C;ENSP00000422423:S1383C	ENSP00000260184:S1383C	S	-	2	0	DDX60L	169537525	1.000000	0.71417	0.018000	0.16275	0.818000	0.46254	2.414000	0.44627	0.089000	0.17243	0.305000	0.20034	TCT		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		6	30	0	0	0	0	6	30				
LRRC14B	389257	broad.mit.edu	37	5	195216	195216	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:195216C>T	ENST00000328278.3	+	2	1321	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	431										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACTGCTACCCCGAGGGTGCCG	0.672																																						uc003jal.1		NA																	0				skin(1)	1						c.(1291-1293)CCC>CCT		leucine rich repeat containing 14B							81.0	93.0	89.0					5																	195216		2096	4206	6302	SO:0001819	synonymous_variant	389257							g.chr5:195216C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1293C>T	5.37:g.195216C>T							p.P431P	NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN			2	1321	+			431						Silent	SNP	ENST00000328278.3	37	c.1293C>T	CCDS47184.1																																																																																				0.672	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		25	119	0	0	0	0	25	119				
GHR	2690	broad.mit.edu	37	5	42711358	42711358	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:42711358A>G	ENST00000230882.4	+	7	858	c.668A>G	c.(667-669)gAt>gGt	p.D223G	GHR_ENST00000537449.1_Missense_Mutation_p.D36G|GHR_ENST00000357703.3_Missense_Mutation_p.D201G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	223	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGTGGATAAGGAATAT	0.398																																						uc003jmt.2		NA																	0				lung(4)|kidney(1)|skin(1)	6						c.(667-669)GAT>GGT		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						191.0	181.0	185.0					5																	42711358		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42711358A>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.668A>G	5.37:g.42711358A>G	ENSP00000230882:p.Asp223Gly					GHR_uc011cpq.1_Missense_Mutation_p.D36G	p.D223G	NM_000163	NP_000154	P10912	GHR_HUMAN			7	711	+		Myeloproliferative disorder(839;0.00878)	223			Extracellular (Potential).|Fibronectin type-III.		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.668A>G	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507857	0.27036	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276;ENST00000537449	D;D;D	0.92495	-3.05;-3.05;-2.35	5.21	5.21	0.72293	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.116963	0.56097	D	0.000030	T	0.78188	0.4244	N	0.03294	-0.36	0.38408	D	0.945855	P	0.37731	0.607	B	0.42386	0.386	T	0.78435	-0.2205	10	0.02654	T	1	-17.5496	3.927	0.09269	0.6196:0.1862:0.1943:0.0	.	223	P10912	GHR_HUMAN	G	223;201;223;36	ENSP00000230882:D223G;ENSP00000350335:D201G;ENSP00000442206:D36G	ENSP00000230882:D223G	D	+	2	0	GHR	42747115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.193000	0.50997	1.948000	0.56530	0.533000	0.62120	GAT		0.398	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		45	83	0	0	0	0	45	83				
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.0					uc003jpm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(331-333)CGC>TGC		granzyme A precursor		C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	123.0	118.0	120.0		331	2.6	0.0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	111/263	54403737	7,12999	2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403737C>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.331C>T	5.37:g.54403737C>T	ENSP00000274306:p.Arg111Cys						p.R111C	NM_006144	NP_006135	P12544	GRAA_HUMAN			3	368	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	111			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.331C>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218927	0.39201	0.001589	0.0	ENSG00000145649	ENST00000274306	D	0.88664	-2.41	5.5	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840125	0.11103	N	0.599416	D	0.86393	0.5922	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.48304	0.573	T	0.75508	-0.3293	10	0.40728	T	0.16	.	5.8772	0.18836	0.3972:0.4552:0.0:0.1476	.	111	P12544	GRAA_HUMAN	C	111	ENSP00000274306:R111C	ENSP00000274306:R111C	R	+	1	0	GZMA	54439494	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	-0.070000	0.11523	0.870000	0.35726	0.655000	0.94253	CGC		0.443	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		6	62	0	0	0	0	6	62				
PCDHAC2	56134	broad.mit.edu	37	5	140347664	140347664	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:140347664C>T	ENST00000289269.5	+	1	1845	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAACATCACGGTGACAGCC	0.552																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(1312-1314)ACG>ATG		protocadherin alpha subfamily C, 2 isoform 1							90.0	95.0	93.0					5																	140347664		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347664C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1313C>T	5.37:g.140347664C>T	ENSP00000289269:p.Thr438Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.T438M	p.T438M	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1553	+			438			Extracellular (Potential).|Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1313C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121987	0.56613	.	.	ENSG00000243232	ENST00000289269	T	0.56611	0.45	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.000000	0.43260	D	0.000583	T	0.79569	0.4468	M	0.90145	3.09	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.986;1.0	T	0.82857	-0.0250	10	0.87932	D	0	.	20.0402	0.97587	0.0:1.0:0.0:0.0	.	438;438	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	M	438	ENSP00000289269:T438M	ENSP00000289269:T438M	T	+	2	0	PCDHAC2	140327848	0.998000	0.40836	1.000000	0.80357	0.828000	0.46876	4.069000	0.57541	2.750000	0.94351	0.563000	0.77884	ACG		0.552	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		26	93	0	0	0	0	26	93				
PDGFRB	5159	broad.mit.edu	37	5	149500844	149500844	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:149500844G>A	ENST00000261799.4	-	17	2855	c.2386C>T	c.(2386-2388)Cca>Tca	p.P796S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAGCACTGGAGACTCGTTG	0.562			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2386-2388)CCA>TCA		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						119.0	107.0	111.0					5																	149500844		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500844G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2386C>T	5.37:g.149500844G>A	ENSP00000261799:p.Pro796Ser					PDGFRB_uc010jhd.2_Missense_Mutation_p.P635S	p.P796S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2855	-		all_hematologic(541;0.224)	796			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2386C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234936	0.39498	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.81996	-1.56	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000156	T	0.80586	0.4651	N	0.17594	0.5	0.43103	D	0.994792	P;D	0.58970	0.599;0.984	B;P	0.56216	0.444;0.794	T	0.82474	-0.0439	10	0.48119	T	0.1	.	13.9776	0.64282	0.0:0.1517:0.8483:0.0	.	796;796	A8KAM8;P09619	.;PGFRB_HUMAN	S	796;466	ENSP00000261799:P796S	ENSP00000261799:P796S	P	-	1	0	PDGFRB	149481037	1.000000	0.71417	0.993000	0.49108	0.072000	0.16883	4.445000	0.60007	2.319000	0.78375	0.555000	0.69702	CCA		0.562	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		5	60	0	0	0	0	5	60				
GEMIN5	25929	broad.mit.edu	37	5	154287226	154287226	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:154287226C>G	ENST00000285873.7	-	16	2395	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	774					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACCATTCTCAACAGGTCCT	0.498																																						uc003lvx.3		NA																	0				skin(2)|ovary(1)	3						c.(2320-2322)GAG>CAG		gemin 5							183.0	165.0	171.0					5																	154287226		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154287226C>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2320G>C	5.37:g.154287226C>G	ENSP00000285873:p.Glu774Gln					GEMIN5_uc011ddk.1_Missense_Mutation_p.E773Q	p.E774Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		16	2403	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	774					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.2320G>C	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027370	0.35797	.	.	ENSG00000082516	ENST00000285873	T	0.71817	-0.6	5.63	5.63	0.86233	.	0.180825	0.46442	D	0.000283	T	0.65281	0.2676	L	0.55103	1.725	0.50467	D	0.999875	P;P	0.48503	0.911;0.911	B;B	0.39840	0.311;0.311	T	0.67730	-0.5595	10	0.41790	T	0.15	-23.2979	13.9362	0.64026	0.0:0.8479:0.1521:0.0	.	773;774	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Q	774	ENSP00000285873:E774Q	ENSP00000285873:E774Q	E	-	1	0	GEMIN5	154267419	0.988000	0.35896	0.919000	0.36401	0.162000	0.22319	3.495000	0.53280	2.644000	0.89710	0.563000	0.77884	GAG		0.498	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			14	101	0	0	0	0	14	101				
TRIM41	90933	broad.mit.edu	37	5	180651243	180651243	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:180651243T>G	ENST00000315073.5	+	1	954	c.244T>G	c.(244-246)Tgg>Ggg	p.W82G	CTC-338M12.7_ENST00000499096.2_RNA|MIR4638_ENST00000581158.1_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.W82G	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	82	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W82G(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCGCGGGGTGGGACACCCC	0.627																																						uc003mne.1		NA																	4	Substitution - Missense(4)		prostate(4)		0						c.(244-246)TGG>GGG		tripartite motif-containing 41 isoform 1							78.0	82.0	81.0					5																	180651243		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651243T>G	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.244T>G	5.37:g.180651243T>G	ENSP00000320869:p.Trp82Gly					uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.W82G|TRIM41_uc003mnd.1_Missense_Mutation_p.W82G|TRIM41_uc003mnf.1_RNA	p.W82G	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	938	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	82			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.244T>G	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938411	0.52972	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.53206	1.18;0.63	5.0	3.85	0.44370	Zinc finger, RING-type (1);	0.172641	0.28036	N	0.016860	T	0.40645	0.1125	L	0.29908	0.895	0.33975	D	0.64722	D;D;D	0.56968	0.963;0.978;0.978	B;P;P	0.50570	0.441;0.644;0.644	T	0.55418	-0.8144	10	0.56958	D	0.05	.	6.6435	0.22923	0.0:0.1051:0.0:0.8949	.	82;82;82	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	G	82	ENSP00000336749:W82G;ENSP00000320869:W82G	ENSP00000320869:W82G	W	+	1	0	TRIM41	180583849	0.883000	0.30277	0.998000	0.56505	0.648000	0.38561	0.519000	0.22862	1.877000	0.54381	0.260000	0.18958	TGG		0.627	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		14	76	0	0	0	0	14	76				
SYCP2L	221711	broad.mit.edu	37	6	10903148	10903148	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:10903148G>C	ENST00000283141.6	+	8	889	c.593G>C	c.(592-594)cGa>cCa	p.R198P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R39P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	198						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCTGTCCCTCGAGAAGAGAGA	0.388																																						uc003mzo.2		NA																	0				ovary(1)|skin(1)	2						c.(592-594)CGA>CCA		synaptonemal complex protein 2-like							124.0	116.0	118.0					6																	10903148		1909	4146	6055	SO:0001583	missense	221711					nucleus		g.chr6:10903148G>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.593G>C	6.37:g.10903148G>C	ENSP00000283141:p.Arg198Pro					SYCP2L_uc011din.1_Missense_Mutation_p.R39P|SYCP2L_uc010jow.2_5'UTR	p.R198P	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		8	889	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	198					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.593G>C	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654866	0.29425	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.49139	0.79;2.04	5.66	-0.462	0.12168	.	0.573649	0.17361	N	0.177023	T	0.42063	0.1186	M	0.65498	2.005	0.09310	N	1	B;D	0.63046	0.039;0.992	B;P	0.61132	0.029;0.884	T	0.31586	-0.9938	10	0.72032	D	0.01	-1.7154	7.4265	0.27102	0.3717:0.1025:0.5258:0.0	.	39;198	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	P	39;198	ENSP00000440676:R39P;ENSP00000283141:R198P	ENSP00000283141:R198P	R	+	2	0	SYCP2L	11011134	0.011000	0.17503	0.003000	0.11579	0.006000	0.05464	0.332000	0.19751	-0.146000	0.11274	-0.827000	0.03088	CGA		0.388	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		5	40	0	0	0	0	5	40				
MDN1	23195	broad.mit.edu	37	6	90440541	90440541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:90440541G>A	ENST00000369393.3	-	35	5159	c.5044C>T	c.(5044-5046)Cag>Tag	p.Q1682*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1682*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1682					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTTTTCTGATATTCTGTA	0.378																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(5044-5046)CAG>TAG		MDN1, midasin homolog							109.0	101.0	104.0					6																	90440541		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90440541G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5044C>T	6.37:g.90440541G>A	ENSP00000358400:p.Gln1682*						p.Q1682*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	35	5160	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1682					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.5044C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	44	10.888397	0.99483	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.62	4.67	0.58626	.	0.240777	0.41097	D	0.000941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.8027	0.57594	0.0:0.116:0.7507:0.1333	.	.	.	.	X	1682	.	ENSP00000358400:Q1682X	Q	-	1	0	MDN1	90497262	1.000000	0.71417	0.997000	0.53966	0.779000	0.44077	2.275000	0.43399	2.639000	0.89480	0.585000	0.79938	CAG		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	42	0	0	0	0	6	42				
LIN28B	389421	broad.mit.edu	37	6	105526438	105526438	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:105526438G>A	ENST00000345080.4	+	4	736	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	178					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTTCTCAGGGAAGACAGGAA	0.547																																						uc003pqv.1		NA																	0					0						c.(532-534)GGA>GAA		lin-28 homolog B							93.0	84.0	87.0					6																	105526438		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105526438G>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.533G>A	6.37:g.105526438G>A	ENSP00000344401:p.Gly178Glu					LIN28B_uc010kda.1_3'UTR	p.G178E	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			4	736	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	178					A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.533G>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873776	0.51695	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	L	0.43152	1.355	0.52099	D	0.999947	B	0.21821	0.061	B	0.19391	0.025	T	0.46707	-0.9172	9	0.72032	D	0.01	-19.6351	20.5407	0.99260	0.0:0.0:1.0:0.0	.	178	Q6ZN17	LN28B_HUMAN	E	178	.	ENSP00000344401:G178E	G	+	2	0	LIN28B	105633131	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.529000	0.53532	2.865000	0.98341	0.655000	0.94253	GGA		0.547	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		3	26	0	0	0	0	3	26				
COX19	90639	broad.mit.edu	37	7	1015111	1015111	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:1015111A>T	ENST00000344111.3	-	1	124	c.35T>A	c.(34-36)tTc>tAc	p.F12Y		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	12						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCGCGGCTGGAAGCTCTTGGT	0.701																																						uc003sjp.1		NA																	0					0						c.(34-36)TTC>TAC		COX19 cytochrome c oxidase assembly homolog							22.0	24.0	24.0					7																	1015111		2203	4295	6498	SO:0001583	missense	90639					cytosol		g.chr7:1015111A>T	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.35T>A	7.37:g.1015111A>T	ENSP00000342015:p.Phe12Tyr					ADAP1_uc010ksc.2_5'UTR	p.F12Y	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	1	125	-		Ovarian(82;0.0112)	12					A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	c.35T>A	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873232	0.91664	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.61123	0.2322	.	.	.	0.50632	D	0.999883	D	0.59357	0.985	P	0.51974	0.686	T	0.59016	-0.7533	8	0.27082	T	0.32	0.0	13.3655	0.60680	1.0:0.0:0.0:0.0	.	12	Q49B96	COX19_HUMAN	Y	12	.	ENSP00000342015:F12Y	F	-	2	0	COX19	981637	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.153000	0.71819	1.855000	0.53841	0.533000	0.62120	TTC		0.701	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		3	15	0	0	0	0	3	15				
SDK1	221935	broad.mit.edu	37	7	3991530	3991530	+	Silent	SNP	G	G	A	rs577118071	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:3991530G>A	ENST00000404826.2	+	7	1267	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	SDK1_ENST00000389531.3_Silent_p.A376A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGCCAGGGCGACGGCCTTTC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		16558	0.0		0.0	False		,,,				2504	0.002					uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1126-1128)GCG>GCA		sidekick 1 precursor							27.0	31.0	29.0					7																	3991530		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3991530G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1128G>A	7.37:g.3991530G>A							p.A376A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1267	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	376			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1128G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912181	0.02415	.	.	ENSG00000146555	ENST00000426596	.	.	.	4.87	-9.74	0.00509	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.54695	-0.8255	4	.	.	.	.	5.4026	0.16305	0.4482:0.3438:0.0777:0.1303	.	.	.	.	Q	95	.	.	R	+	2	0	SDK1	3958056	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.782000	0.00367	-3.710000	0.00117	-0.768000	0.03414	CGA		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		3	32	0	0	0	0	3	32				
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:14378223C>T	ENST00000403951.2	-	23	2461	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_ENST00000258767.5_Missense_Mutation_p.R681Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R673Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R680Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R681Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R681Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.R662Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R681Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TCGATGGCTTCGTCTTTTCTT	0.398																																						uc003ssz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2041-2043)CGA>CAA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						178.0	162.0	167.0					7																	14378223		1861	4099	5960	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378223C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2042G>A	7.37:g.14378223C>T	ENSP00000385780:p.Arg681Gln					DGKB_uc011jxt.1_Missense_Mutation_p.R662Q|DGKB_uc003sta.2_Missense_Mutation_p.R681Q|DGKB_uc011jxu.1_Missense_Mutation_p.R680Q	p.R681Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2229	-			681					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2042G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	34	5.413003	0.96072	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	L	0.46741	1.465	0.48696	D	0.999692	D;P;P;D	0.69078	0.997;0.912;0.912;0.988	P;B;B;P	0.59703	0.862;0.297;0.392;0.571	T	0.29212	-1.0019	10	0.45353	T	0.12	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	680;662;681;681	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Q	681;681;681;680;673;662;681	ENSP00000385780:R681Q;ENSP00000382260:R681Q;ENSP00000258767:R681Q;ENSP00000384909:R680Q;ENSP00000385031:R673Q;ENSP00000388451:R662Q;ENSP00000386066:R681Q	ENSP00000258767:R681Q	R	-	2	0	DGKB	14344748	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.070000	0.71220	2.570000	0.86706	0.650000	0.86243	CGA		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		13	98	0	0	0	0	13	98				
EGFR	1956	broad.mit.edu	37	7	55220268	55220268	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:55220268T>C	ENST00000275493.2	+	6	835	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	EGFR_ENST00000344576.2_Missense_Mutation_p.S220P|EGFR_ENST00000420316.2_Missense_Mutation_p.S220P|EGFR_ENST00000455089.1_Missense_Mutation_p.S175P|EGFR_ENST00000342916.3_Missense_Mutation_p.S220P|EGFR_ENST00000454757.2_Missense_Mutation_p.S167P|EGFR_ENST00000442591.1_Missense_Mutation_p.S220P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	220			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCAGCAGTGCTCCGGGCGCTG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(658-660)TCC>CCC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						110.0	122.0	118.0					7																	55220268		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220268T>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.658T>C	7.37:g.55220268T>C	ENSP00000275493:p.Ser220Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.S220P|EGFR_uc003tqi.2_Missense_Mutation_p.S220P|EGFR_uc003tqj.2_Missense_Mutation_p.S220P|EGFR_uc010kzg.1_Missense_Mutation_p.S175P|EGFR_uc011kco.1_Missense_Mutation_p.S167P|EGFR_uc003tql.1_RNA	p.S220P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	904	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		220			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.658T>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104922	0.56291	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	L	0.44542	1.39	0.53688	D	0.99997	B;B;D;B;B	0.89917	0.209;0.067;1.0;0.117;0.106	B;B;D;B;B	0.77004	0.199;0.08;0.989;0.097;0.116	T	0.68119	-0.5493	10	0.44086	T	0.13	.	14.0594	0.64790	0.0:0.0:0.0:1.0	.	175;220;220;220;220	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	175;220;90;220;220;220;220;167;14	ENSP00000415559:S175P;ENSP00000342376:S220P;ENSP00000345973:S220P;ENSP00000413843:S220P;ENSP00000275493:S220P;ENSP00000410031:S220P;ENSP00000395243:S167P	ENSP00000275493:S220P	S	+	1	0	EGFR	55187762	1.000000	0.71417	0.970000	0.41538	0.946000	0.59487	3.862000	0.56009	1.981000	0.57761	0.533000	0.62120	TCC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	562	0	0	0	0	5	562				
MAGI2	9863	broad.mit.edu	37	7	77885755	77885755	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:77885755C>T	ENST00000354212.4	-	10	1805	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	MAGI2_ENST00000535697.1_Missense_Mutation_p.D355N|MAGI2_ENST00000536571.1_Missense_Mutation_p.D350N|MAGI2_ENST00000419488.1_Missense_Mutation_p.D518N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D518N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	518					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTAGCAGGGTCTTCAGGATCA	0.473																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1552-1554)GAC>AAC		membrane associated guanylate kinase, WW and PDZ							77.0	65.0	69.0					7																	77885755		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885755C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1552G>A	7.37:g.77885755C>T	ENSP00000346151:p.Asp518Asn					MAGI2_uc003ugy.2_Missense_Mutation_p.D518N|MAGI2_uc010ldx.1_Missense_Mutation_p.D127N|MAGI2_uc010ldy.1_Missense_Mutation_p.D127N|MAGI2_uc011kgr.1_Missense_Mutation_p.D350N|MAGI2_uc011kgs.1_Missense_Mutation_p.D355N	p.D518N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	1806	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	518					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1552G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.464986	0.84425	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.42131	2.68;2.67;0.98;0.98;0.98	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002039	T	0.58409	0.2120	M	0.81497	2.545	0.80722	D	1	B;P;P;P;P;P	0.50156	0.384;0.511;0.522;0.522;0.783;0.932	P;P;B;B;P;P	0.52217	0.563;0.582;0.416;0.416;0.693;0.592	T	0.65903	-0.6055	10	0.87932	D	0	.	14.5043	0.67743	0.0:0.9296:0.0:0.0704	.	355;350;518;518;518;518	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	N	518;518;518;518;350;355	ENSP00000405766:D518N;ENSP00000346151:D518N;ENSP00000428389:D518N;ENSP00000441584:D350N;ENSP00000441603:D355N	ENSP00000346151:D518N	D	-	1	0	MAGI2	77723691	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.093000	0.71422	1.515000	0.48885	0.555000	0.69702	GAC		0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		3	31	0	0	0	0	3	31				
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Substitution - Missense(1)		pancreas(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(547-549)CGC>TGC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						134.0	129.0	131.0					7																	86415655		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415655C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys					GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	p.R183C	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		183			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.547C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			45	74	0	0	0	0	45	74				
PDAP1	11333	broad.mit.edu	37	7	98998040	98998040	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:98998040C>T	ENST00000350498.3	-	4	501	c.221G>A	c.(220-222)cGc>cAc	p.R74H	PDAP1_ENST00000496335.1_5'Flank	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	74					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACGCCTTTGCGCTTTTGCTA	0.557																																						uc003uqe.2		NA																	0					0						c.(220-222)CGC>CAC		PDGFA associated protein 1	Becaplermin(DB00102)						113.0	88.0	97.0					7																	98998040		2203	4300	6503	SO:0001583	missense	11333				cell proliferation|signal transduction			g.chr7:98998040C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.221G>A	7.37:g.98998040C>T	ENSP00000222968:p.Arg74His						p.R74H	NM_014891	NP_055706	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	342	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		74					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.221G>A	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033880	0.54896	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.27	5.27	0.74061	.	0.047515	0.85682	D	0.000000	T	0.44912	0.1316	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	9	0.40728	T	0.16	-5.6258	13.5541	0.61749	0.0:0.9249:0.0:0.0751	.	74	Q13442	HAP28_HUMAN	H	74	.	ENSP00000222968:R74H	R	-	2	0	PDAP1	98835976	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.359000	0.59449	2.615000	0.88500	0.557000	0.71058	CGC		0.557	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		7	35	0	0	0	0	7	35				
IMPDH1	3614	broad.mit.edu	37	7	128034398	128034398	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034398C>G	ENST00000480861.1	-	13	1519	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	IMPDH1_ENST00000348127.6_Missense_Mutation_p.G535A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.G502A|IMPDH1_ENST00000470772.1_Missense_Mutation_p.G485A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G561A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G461A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.G461A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G538A|IMPDH1_ENST00000338791.6_Missense_Mutation_p.G571A	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTTGAGCTCTCCTGAGTACAT	0.577																																						uc011kol.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(1456-1458)GGA>GCA		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						102.0	86.0	91.0					7																	128034398		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034398C>G		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1442G>C	7.37:g.128034398C>G	ENSP00000420185:p.Gly481Ala					IMPDH1_uc011kom.1_Missense_Mutation_p.G481A|IMPDH1_uc003vmt.2_Missense_Mutation_p.G461A|IMPDH1_uc003vmu.2_Missense_Mutation_p.G571A|IMPDH1_uc003vmw.2_Missense_Mutation_p.G561A|IMPDH1_uc011kon.1_Missense_Mutation_p.G538A|IMPDH1_uc003vmv.2_Missense_Mutation_p.G535A|IMPDH1_uc003vmx.2_Missense_Mutation_p.G494A|IMPDH1_uc003vmy.2_Missense_Mutation_p.G502A|uc011koo.1_5'Flank	p.G486A	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			13	1563	-			486						Missense_Mutation	SNP	ENST00000480861.1	37	c.1457G>C	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291077	0.80914	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.14	5.14	0.70334	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;0.999;0.999;0.999	D;D;D;D;P;D;D;D	0.97110	1.0;0.977;0.977;0.987;0.83;0.93;0.958;0.962	D	0.92507	0.6013	10	0.87932	D	0	-5.6824	16.1251	0.81386	0.0:1.0:0.0:0.0	.	538;481;486;502;561;535;571;461	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	A	538;571;461;561;502;535;461;485;481	ENSP00000399400:G538A;ENSP00000345096:G571A;ENSP00000420803:G461A;ENSP00000346219:G561A;ENSP00000367989:G502A;ENSP00000265385:G535A;ENSP00000342438:G461A;ENSP00000417296:G485A;ENSP00000420185:G481A	ENSP00000345096:G571A	G	-	2	0	IMPDH1	127821634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.388000	0.81334	0.561000	0.74099	GGA		0.577	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		3	43	0	0	0	0	3	43				
IMPDH1	3614	broad.mit.edu	37	7	128034977	128034977	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034977C>G	ENST00000480861.1	-	11	1323	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	IMPDH1_ENST00000348127.6_Missense_Mutation_p.E470Q|IMPDH1_ENST00000378717.4_Missense_Mutation_p.E437Q|IMPDH1_ENST00000470772.1_Missense_Mutation_p.E420Q|IMPDH1_ENST00000354269.5_Missense_Mutation_p.E496Q|IMPDH1_ENST00000496200.1_Missense_Mutation_p.E396Q|IMPDH1_ENST00000343214.4_Missense_Mutation_p.E396Q|IMPDH1_ENST00000419067.2_Missense_Mutation_p.E473Q|IMPDH1_ENST00000338791.6_Missense_Mutation_p.E506Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTGCTCTTCTCCATGGCATCC	0.637																																						uc011kol.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(1261-1263)GAG>CAG		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						68.0	76.0	73.0					7																	128034977		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034977C>G		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1246G>C	7.37:g.128034977C>G	ENSP00000420185:p.Glu416Gln					IMPDH1_uc011kom.1_Missense_Mutation_p.E416Q|IMPDH1_uc003vmt.2_Missense_Mutation_p.E396Q|IMPDH1_uc003vmu.2_Missense_Mutation_p.E506Q|IMPDH1_uc003vmw.2_Missense_Mutation_p.E496Q|IMPDH1_uc011kon.1_Missense_Mutation_p.E473Q|IMPDH1_uc003vmv.2_Missense_Mutation_p.E470Q|IMPDH1_uc003vmx.2_Missense_Mutation_p.E429Q|IMPDH1_uc003vmy.2_Missense_Mutation_p.E437Q|uc011koo.1_5'Flank	p.E421Q	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			11	1367	-			421						Missense_Mutation	SNP	ENST00000480861.1	37	c.1261G>C	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817018	0.50633	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.053682	0.64402	D	0.000001	T	0.69753	0.3146	N	0.21142	0.635	0.80722	D	1	P;B;B;B;B;B;B;B	0.36438	0.553;0.161;0.136;0.255;0.389;0.045;0.099;0.05	B;B;B;B;B;B;B;B	0.42163	0.34;0.2;0.2;0.292;0.378;0.025;0.06;0.126	T	0.70044	-0.4980	10	0.35671	T	0.21	-38.8938	14.56	0.68128	0.0:1.0:0.0:0.0	.	473;416;421;437;496;470;506;396	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Q	473;506;396;496;437;470;396;420;416	ENSP00000399400:E473Q;ENSP00000345096:E506Q;ENSP00000420803:E396Q;ENSP00000346219:E496Q;ENSP00000367989:E437Q;ENSP00000265385:E470Q;ENSP00000342438:E396Q;ENSP00000417296:E420Q;ENSP00000420185:E416Q	ENSP00000345096:E506Q	E	-	1	0	IMPDH1	127822213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.286000	0.78671	2.292000	0.77174	0.561000	0.74099	GAG		0.637	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		3	62	0	0	0	0	3	62				
FAM71F2	346653	broad.mit.edu	37	7	128317777	128317777	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128317777G>C	ENST00000480462.1	+	3	631	c.525G>C	c.(523-525)caG>caC	p.Q175H	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.Q166H			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	175										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAATTCTGCAGAAAGGCCTGT	0.488																																						uc003vnk.3		NA																	0					0						c.(523-525)CAG>CAC		hypothetical protein LOC346653 isoform a							62.0	65.0	64.0					7																	128317777		2040	4254	6294	SO:0001583	missense	346653							g.chr7:128317777G>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.525G>C	7.37:g.128317777G>C	ENSP00000420140:p.Gln175His					FAM71F2_uc010llm.1_Missense_Mutation_p.Q166H|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	p.Q175H	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN			3	631	+			175					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.525G>C	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297890	0.60086	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.7	4.81	0.61882	.	0.620126	0.14458	N	0.318395	T	0.19927	0.0479	L	0.45228	1.405	0.29914	N	0.823325	B;B	0.24258	0.021;0.1	B;B	0.20955	0.012;0.032	T	0.07673	-1.0760	10	0.35671	T	0.21	-2.3283	12.5009	0.55955	0.0:0.168:0.832:0.0	.	166;175	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	H	166;175;166;166	ENSP00000418907:Q166H;ENSP00000420140:Q175H;ENSP00000367976:Q166H;ENSP00000401654:Q166H	ENSP00000367976:Q166H	Q	+	3	2	FAM71F2	128105013	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.737000	0.38197	1.367000	0.46095	0.650000	0.86243	CAG		0.488	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			4	43	0	0	0	0	4	43				
ATP6V0E2	155066	broad.mit.edu	37	7	149575776	149575776	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:149575776C>T	ENST00000425642.2	+	3	185	c.162C>T	c.(160-162)atC>atT	p.I54I	ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000456496.2_Silent_p.I103I|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Silent_p.I54I|ATP6V0E2_ENST00000479613.1_Silent_p.I54I|RP11-445N20.3_ENST00000608912.1_lincRNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	54					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGGCTCATCGCCATCCTGG	0.642																																						uc003wgr.2		NA																	0					0						c.(307-309)ATC>ATT		ATPase, H+ transporting, V0 subunit isoform 1							29.0	34.0	33.0					7																	149575776		1986	4162	6148	SO:0001819	synonymous_variant	155066				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity	g.chr7:149575776C>T	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.162C>T	7.37:g.149575776C>T						ATP6V0E2_uc003wgs.2_Intron|ATP6V0E2_uc003wgp.2_Silent_p.I103I|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	p.I103I	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00256)		3	1260	+			54			Helical; (Potential).		A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	ENST00000425642.2	37	c.309C>T																																																																																					0.642	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470874.1	NM_145230		7	28	0	0	0	0	7	28				
CA8	767	broad.mit.edu	37	8	61139461	61139461	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:61139461T>C	ENST00000317995.4	-	5	811	c.547A>G	c.(547-549)Act>Gct	p.T183A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	183					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	AGGATTTCAGTCACAGCCTTC	0.363																																						uc003xtz.1		NA																	0					0						c.(547-549)ACT>GCT		carbonic anhydrase VIII							81.0	80.0	81.0					8																	61139461		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61139461T>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.547A>G	8.37:g.61139461T>C	ENSP00000314407:p.Thr183Ala					CA8_uc003xua.1_Missense_Mutation_p.T183A	p.T183A	NM_004056	NP_004047	P35219	CAH8_HUMAN			5	795	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	183					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.547A>G	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528461	0.44969	.	.	ENSG00000178538	ENST00000317995	T	0.67171	-0.25	5.83	5.83	0.93111	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.044457	0.85682	D	0.000000	T	0.63367	0.2505	L	0.49513	1.565	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.59600	-0.7424	10	0.49607	T	0.09	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	183	P35219	CAH8_HUMAN	A	183	ENSP00000314407:T183A	ENSP00000314407:T183A	T	-	1	0	CA8	61302015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.137000	0.77295	2.223000	0.72356	0.528000	0.53228	ACT		0.363	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			3	82	0	0	0	0	3	82				
RALYL	138046	broad.mit.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000521376.1_Missense_Mutation_p.R127C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C|RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423																																						uc003ycq.3		NA																	0				ovary(1)	1						c.(646-648)CGC>TGC		RALY RNA binding protein-like isoform 2							55.0	53.0	54.0					8																	85785593		1909	4107	6016	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85785593C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.646C>T	8.37:g.85785593C>T	ENSP00000430367:p.Arg216Cys					RALYL_uc003ycr.3_Missense_Mutation_p.R216C|RALYL_uc003ycs.3_Missense_Mutation_p.R216C|RALYL_uc010lzy.2_Missense_Mutation_p.R205C|RALYL_uc003yct.3_Missense_Mutation_p.R229C|RALYL_uc003ycu.3_Missense_Mutation_p.R143C|RALYL_uc003ycv.3_Missense_Mutation_p.R128C	p.R216C	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			8	1062	+			216			Potential.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.646C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040216	0.55003	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.21031	2.76;2.76;2.76;2.74;2.75;2.3;2.03	6.16	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.77103	2.36	0.45097	D	0.998112	P;D;P;P;D	0.53885	0.768;0.963;0.743;0.851;0.963	B;B;B;B;B	0.43728	0.225;0.429;0.176;0.399;0.429	T	0.07385	-1.0775	10	0.87932	D	0	-3.0131	7.8421	0.29403	0.5307:0.3874:0.0:0.0819	.	205;216;143;229;216	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	216;216;216;205;229;143;127	ENSP00000430394:R216C;ENSP00000428667:R216C;ENSP00000430367:R216C;ENSP00000430065:R205C;ENSP00000430128:R229C;ENSP00000428807:R143C;ENSP00000428310:R127C	ENSP00000430128:R229C	R	+	1	0	RALYL	85948148	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.492000	0.45311	0.907000	0.36646	0.650000	0.86243	CGC		0.423	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			3	12	0	0	0	0	3	12				
DPYS	1807	broad.mit.edu	37	8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:105456608G>A	ENST00000351513.2	-	4	793	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542																																						uc003yly.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(661-663)CGC>TGC		dihydropyrimidinase							67.0	63.0	64.0					8																	105456608		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456608G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.661C>T	8.37:g.105456608G>A	ENSP00000276651:p.Arg221Cys						p.R221C	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	790	-			221						Missense_Mutation	SNP	ENST00000351513.2	37	c.661C>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040042	0.93630	.	.	ENSG00000147647	ENST00000351513	D	0.92348	-3.02	5.89	5.01	0.66863	Amidohydrolase 1 (1);	0.168688	0.52532	D	0.000061	D	0.97114	0.9057	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98078	1.0402	10	0.87932	D	0	-24.2491	14.9145	0.70785	0.0685:0.0:0.9315:0.0	.	221	Q14117	DPYS_HUMAN	C	221	ENSP00000276651:R221C	ENSP00000276651:R221C	R	-	1	0	DPYS	105525784	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.281000	0.95811	1.481000	0.48307	0.655000	0.94253	CGC		0.542	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		6	56	0	0	0	0	6	56				
ASAP1	50807	broad.mit.edu	37	8	131129204	131129204	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:131129204C>A	ENST00000518721.1	-	21	2145	c.1918G>T	c.(1918-1920)Gtt>Ttt	p.V640F	ASAP1_ENST00000357668.1_Missense_Mutation_p.V640F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	640					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAGTGTAGAACTGTGTTTCCC	0.383																																						uc003yta.1		NA																	0				ovary(4)	4						c.(1918-1920)GTT>TTT		development and differentiation enhancing factor							105.0	103.0	104.0					8																	131129204		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131129204C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1918G>T	8.37:g.131129204C>A	ENSP00000429900:p.Val640Phe					ASAP1_uc003ysz.1_Missense_Mutation_p.V451F|ASAP1_uc011liw.1_Missense_Mutation_p.V633F	p.V640F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			20	1946	-			640			ANK 2.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1918G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.86|19.86	3.905748|3.905748	0.72868|0.72868	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.64991	.|-0.13;-0.13	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Ankyrin repeat-containing domain (4);	.|0.251013	.|0.39985	.|N	.|0.001204	T|T	0.56804|0.56804	0.2010|0.2010	L|L	0.45137|0.45137	1.4|1.4	0.52099|0.52099	D|D	0.999942|0.999942	.|B;B;B	.|0.32010	.|0.351;0.351;0.302	.|B;B;B	.|0.27262	.|0.078;0.078;0.074	T|T	0.60367|0.60367	-0.7277|-0.7277	5|10	.|0.87932	.|D	.|0	.|.	18.385|18.385	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|640;640;643	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	I|F	460;53|643;640;640	.|ENSP00000350297:V640F;ENSP00000429900:V640F	.|ENSP00000344591:V643F	S|V	-|-	2|1	0|0	ASAP1|ASAP1	131198386|131198386	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.942000|0.942000	0.58702|0.58702	7.770000|7.770000	0.85390|0.85390	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	AGT|GTT		0.383	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		33	67	1	0	1.63e-12	1.81e-12	33	67				
KCNK9	51305	broad.mit.edu	37	8	140631260	140631260	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.L122L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGAACATGACCAGTGTCAGCG	0.597																																						uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(364-366)CTG>CTA		potassium channel, subfamily K, member 9							82.0	67.0	72.0					8																	140631260		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631260C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.366G>A	8.37:g.140631260C>T						KCNK9_uc003yvg.1_Silent_p.L122L|KCNK9_uc003yve.1_RNA	p.L122L	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	430	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	122			Helical; (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.366G>A	CCDS6377.1																																																																																				0.597	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		4	23	0	0	0	0	4	23				
GPR20	2843	broad.mit.edu	37	8	142367126	142367126	+	Missense_Mutation	SNP	C	C	T	rs150478338	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:142367126C>T	ENST00000377741.3	-	2	988	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V300I(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACTGGTGACGAAGCAGTAG	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20235	0.0		0.0	False		,,,				2504	0.0					uc003ywf.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(898-900)GTC>ATC		G protein-coupled receptor 20		C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	86.0	71.0	76.0		898	3.4	1.0	8	dbSNP_134	76	0,8600		0,0,4300	yes	missense	GPR20	NM_005293.2	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	300/359	142367126	3,13003	2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367126C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.898G>A	8.37:g.142367126C>T	ENSP00000366970:p.Val300Ile						p.V300I	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	987	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		300			Cytoplasmic (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.898G>A	CCDS34949.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.07	2.425166	0.43020	6.81E-4	0.0	ENSG00000204882	ENST00000377741	T	0.37235	1.21	5.21	3.4	0.38934	.	0.081922	0.48286	N	0.000184	T	0.19927	0.0479	N	0.24115	0.695	0.30521	N	0.768409	B	0.32051	0.354	B	0.20384	0.029	T	0.12167	-1.0558	10	0.24483	T	0.36	-26.808	9.9592	0.41686	0.0:0.833:0.0:0.167	.	300	Q99678	GPR20_HUMAN	I	300	ENSP00000366970:V300I	ENSP00000366970:V300I	V	-	1	0	GPR20	142436308	0.950000	0.32346	0.975000	0.42487	0.971000	0.66376	1.983000	0.40648	0.566000	0.29273	0.561000	0.74099	GTC		0.647	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		7	70	0	0	0	0	7	70				
KIAA2026	158358	broad.mit.edu	37	9	5923143	5923143	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:5923143C>T	ENST00000399933.3	-	8	2852	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	KIAA2026_ENST00000381461.2_Silent_p.K921K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	951										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTTTGCCTTCTTCCTTGGAG	0.388																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2851-2853)AAG>AAA		hypothetical protein LOC158358							198.0	187.0	191.0					9																	5923143		1914	4146	6060	SO:0001819	synonymous_variant	158358							g.chr9:5923143C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2853G>A	9.37:g.5923143C>T						KIAA2026_uc010mht.2_Silent_p.K126K	p.K951K	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3069	-		Acute lymphoblastic leukemia(23;0.158)	951					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.2853G>A																																																																																					0.388	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		16	149	0	0	0	0	16	149				
TMEM246	84302	broad.mit.edu	37	9	104239327	104239327	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:104239327C>T	ENST00000374851.1	-	4	1195	c.48G>A	c.(46-48)cgG>cgA	p.R16R	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.R16R|TMEM246_ENST00000374848.3_Silent_p.R16R|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	16						integral component of membrane (GO:0016021)											AGGAGAGTCGCCGCAGCCTCC	0.562																																						uc004bbm.2		NA																	0					0						c.(46-48)CGG>CGA		hypothetical protein LOC84302							31.0	33.0	32.0					9																	104239327		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104239327C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.48G>A	9.37:g.104239327C>T						uc004bbl.1_5'Flank	p.R16R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	370	-		Acute lymphoblastic leukemia(62;0.0527)	16					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.48G>A	CCDS6757.1																																																																																				0.562	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		9	33	0	0	0	0	9	33				
SVEP1	79987	broad.mit.edu	37	9	113169875	113169875	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113169875C>T	ENST00000401783.2	-	38	8341	c.8005G>A	c.(8005-8007)Gct>Act	p.A2669T	SVEP1_ENST00000297826.5_Missense_Mutation_p.A595T|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2646T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2669	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGTGTAGCAGGAGACTCC	0.453																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(8005-8007)GCT>ACT		polydom							189.0	186.0	187.0					9																	113169875		1893	4118	6011	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169875C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8005G>A	9.37:g.113169875C>T	ENSP00000384917:p.Ala2669Thr					SVEP1_uc010mty.2_Missense_Mutation_p.A595T	p.A2669T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8342	-			2669			Sushi 21.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8005G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615320	0.00835	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.76060	-0.98;-0.99;-0.49	5.38	-0.985	0.10256	Complement control module (1);Sushi/SCR/CCP (3);	1.002630	0.08029	N	0.993276	T	0.56673	0.2001	L	0.37507	1.11	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32955	-0.9887	10	0.09590	T	0.72	.	4.3333	0.11075	0.2388:0.3625:0.0:0.3987	.	2669	Q4LDE5	SVEP1_HUMAN	T	2669;2646;595;341	ENSP00000384917:A2669T;ENSP00000363593:A2646T;ENSP00000297826:A595T	ENSP00000297826:A595T	A	-	1	0	SVEP1	112209696	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.177000	0.16801	-0.511000	0.06514	-0.535000	0.04281	GCT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				56	195	0	0	0	0	56	195				
SVEP1	79987	broad.mit.edu	37	9	113171187	113171187	+	Silent	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113171187A>G	ENST00000401783.2	-	38	7029	c.6693T>C	c.(6691-6693)tgT>tgC	p.C2231C	SVEP1_ENST00000297826.5_Silent_p.C157C|SVEP1_ENST00000374469.1_Silent_p.C2208C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2231	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCCCGGGTTACACTGATACC	0.473																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(6691-6693)TGT>TGC		polydom							136.0	138.0	138.0					9																	113171187		2032	4187	6219	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171187A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6693T>C	9.37:g.113171187A>G						SVEP1_uc010mty.2_Silent_p.C157C	p.C2231C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7030	-			2231			Sushi 14.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6693T>C	CCDS48004.1																																																																																				0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	132	0	0	0	0	28	132				
GPR64	10149	broad.mit.edu	37	X	19014210	19014210	+	Missense_Mutation	SNP	C	C	T	rs142899178	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:19014210C>T	ENST00000379869.3	-	27	2838	c.2675G>A	c.(2674-2676)cGg>cAg	p.R892Q	GPR64_ENST00000360279.4_Missense_Mutation_p.R870Q|GPR64_ENST00000357544.3_Missense_Mutation_p.R862Q|GPR64_ENST00000379878.3_Missense_Mutation_p.R876Q|GPR64_ENST00000356606.4_Missense_Mutation_p.R878Q|GPR64_ENST00000340581.3_Missense_Mutation_p.R773Q|GPR64_ENST00000379873.2_Missense_Mutation_p.R892Q|GPR64_ENST00000379876.1_Missense_Mutation_p.R868Q|GPR64_ENST00000357991.3_Missense_Mutation_p.R889Q|GPR64_ENST00000354791.3_Missense_Mutation_p.R876Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	892					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ACAAAGATACCGCCTCCATTG	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		10714	0.0		0.001	False		,,,				2504	0.0					uc004cyx.2		NA																	0					0						c.(2674-2676)CGG>CAG		G protein-coupled receptor 64 isoform 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,0,1632,571	134.0	141.0	139.0		2675,2633,2609,2627,2675,2561,2603,2585,2666	4.7	1.0	X	dbSNP_134	139	16,6712		1,8,6,2419,1866	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	GPR64	NM_001079858.2,NM_001079859.2,NM_001079860.2,NM_001184833.1,NM_001184834.1,NM_001184835.1,NM_001184836.1,NM_001184837.1,NM_005756.3	43,43,43,43,43,43,43,43,43	1,8,6,4051,2437	TT,TC,T,CC,C		0.2378,0.0,0.1515	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	892/1018,878/1004,870/996,876/1002,892/967,854/980,868/994,862/988,889/1015	19014210	16,10547	2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19014210C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2675G>A	X.37:g.19014210C>T	ENSP00000369198:p.Arg892Gln					GPR64_uc004cyy.2_Missense_Mutation_p.R889Q|GPR64_uc004cyz.2_Missense_Mutation_p.R878Q|GPR64_uc004czb.2_Missense_Mutation_p.R892Q|GPR64_uc004czc.2_Missense_Mutation_p.R876Q|GPR64_uc004czd.2_Missense_Mutation_p.R868Q|GPR64_uc004cze.2_Missense_Mutation_p.R862Q|GPR64_uc004czf.2_Missense_Mutation_p.R854Q|GPR64_uc004cza.2_Missense_Mutation_p.R870Q|GPR64_uc004cyw.2_Missense_Mutation_p.R876Q|GPR64_uc010nfj.2_Missense_Mutation_p.R773Q	p.R892Q	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			27	2839	-	Hepatocellular(33;0.183)		892			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2675G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207498	0.79240	0.0	0.002378	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.57	4.71	0.59529	.	0.137706	0.33610	N	0.004733	T	0.56247	0.1972	L	0.46157	1.445	0.34931	D	0.74936	B;D;D;P;P;D;D;D;D;P;D	0.89917	0.32;0.998;1.0;0.881;0.881;1.0;1.0;1.0;1.0;0.81;1.0	B;D;D;P;P;D;D;D;D;B;D	0.72338	0.081;0.918;0.966;0.572;0.572;0.977;0.977;0.977;0.977;0.368;0.949	T	0.67569	-0.5637	10	0.54805	T	0.06	.	13.4403	0.61108	0.0:0.9226:0.0:0.0774	.	773;854;862;868;876;892;870;878;889;892;876	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Q	892;876;876;868;862;892;870;889;878;773	ENSP00000369202:R892Q;ENSP00000369207:R876Q;ENSP00000346845:R876Q;ENSP00000369205:R868Q;ENSP00000350152:R862Q;ENSP00000369198:R892Q;ENSP00000353421:R870Q;ENSP00000350680:R889Q;ENSP00000349015:R878Q;ENSP00000344972:R773Q	ENSP00000344972:R773Q	R	-	2	0	GPR64	18924131	0.334000	0.24739	0.999000	0.59377	0.999000	0.98932	0.756000	0.26419	1.108000	0.41662	0.594000	0.82650	CGG		0.363	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			20	186	0	0	0	0	20	186				
SAT1	6303	broad.mit.edu	37	X	23803921	23803921	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:23803921G>A	ENST00000379270.4	+	6	643	c.464G>A	c.(463-465)aGa>aAa	p.R155K	RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Missense_Mutation_p.R127K|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						GAGGGTTGGAGACTGTTCAAG	0.428																																						uc004dau.2		NA																	0					0						c.(463-465)AGA>AAA		diamine N-acetyltransferase 1	Spermine(DB00127)						82.0	71.0	75.0					X																	23803921		2203	4300	6503	SO:0001583	missense	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23803921G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.464G>A	X.37:g.23803921G>A	ENSP00000368572:p.Arg155Lys					SAT1_uc004dav.2_RNA	p.R155K	NM_002970	NP_002961	P21673	SAT1_HUMAN			6	658	+			155			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000379270.4	37	c.464G>A	CCDS14207.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225947	0.58668	.	.	ENSG00000130066	ENST00000379270;ENST00000379254;ENST00000342463	T;T	0.44881	0.91;0.91	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.64170	1.965	0.80722	D	1	B	0.30511	0.282	B	0.30179	0.112	T	0.30208	-0.9986	10	0.25106	T	0.35	-2.5459	18.6745	0.91524	0.0:0.0:1.0:0.0	.	155	P21673	SAT1_HUMAN	K	155;127;183	ENSP00000368572:R155K;ENSP00000368556:R127K	ENSP00000343343:R183K	R	+	2	0	SAT1	23713842	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.354000	0.79902	0.594000	0.82650	AGA		0.428	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		15	67	0	0	0	0	15	67				
HUWE1	10075	broad.mit.edu	37	X	53674496	53674496	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:53674496C>T	ENST00000342160.3	-	5	623	c.166G>A	c.(166-168)Gac>Aac	p.D56N	HUWE1_ENST00000218328.8_Missense_Mutation_p.D56N|HUWE1_ENST00000262854.6_Missense_Mutation_p.D56N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	56					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAACAGGTCCACCCAGTGA	0.483																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(166-168)GAC>AAC		HECT, UBA and WWE domain containing 1							161.0	146.0	151.0					X																	53674496		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53674496C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.166G>A	X.37:g.53674496C>T	ENSP00000340648:p.Asp56Asn						p.D56N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			6	568	-			56					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.166G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535962	0.96460	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.48836	1.11;1.11;0.8	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.61703	1.905	0.58432	D	0.999999	D	0.71674	0.998	P	0.58391	0.838	T	0.66256	-0.5969	10	0.66056	D	0.02	.	17.1382	0.86745	0.0:1.0:0.0:0.0	.	56	Q7Z6Z7	HUWE1_HUMAN	N	56	ENSP00000340648:D56N;ENSP00000262854:D56N;ENSP00000218328:D56N	ENSP00000218328:D56N	D	-	1	0	HUWE1	53691221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.432000	0.80349	2.312000	0.78011	0.600000	0.82982	GAC		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	229	0	0	0	0	19	229				
ITIH6	347365	broad.mit.edu	37	X	54784515	54784515	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:54784515C>T	ENST00000218436.6	-	8	2021	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	664					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACTTTGGTTTCACAGGCCTTG	0.527																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1990-1992)GTG>GTA		inter-alpha (globulin) inhibitor H5-like							90.0	72.0	78.0					X																	54784515		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784515C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1992G>A	X.37:g.54784515C>T							p.V664V	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2022	-			664					A6NN03	Silent	SNP	ENST00000218436.6	37	c.1992G>A	CCDS14361.1																																																																																				0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	68	0	0	0	0	11	68				
NOX1	27035	broad.mit.edu	37	X	100117563	100117563	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:100117563C>T	ENST00000372966.3	-	6	695		c.e6-1		NOX1_ENST00000372960.4_Splice_Site|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Splice_Site	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1						angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACTCCACTGTCTGTGAAAGGA	0.463																																						uc004egj.2		NA																	0				ovary(1)	1						c.e6-1		NADPH oxidase 1 isoform long							207.0	187.0	194.0					X																	100117563		2203	4298	6501	SO:0001630	splice_region_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117563C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.490-1G>A	X.37:g.100117563C>T						uc010nnf.2_Intron|NOX1_uc004egl.3_Splice_Site_p.T164_splice|NOX1_uc010nne.2_Splice_Site_p.T127_splice	p.T164_splice	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			6	696	-								A8K836|O95691|Q2PP02	Splice_Site	SNP	ENST00000372966.3	37	c.490_splice	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474402	0.63737	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.316	0.74078	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX1	100004219	1.000000	0.71417	0.980000	0.43619	0.930000	0.56654	3.343000	0.52167	2.258000	0.74832	0.600000	0.82982	.		0.463	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052	Intron	28	239	0	0	0	0	28	239				
TEX13A	56157	broad.mit.edu	37	X	104464968	104464968	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:104464968A>T	ENST00000413579.1	-	2	225	c.114T>A	c.(112-114)aaT>aaA	p.N38K	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.N38K|TEX13A_ENST00000372578.3_Missense_Mutation_p.N38K			Q9BXU3	TX13A_HUMAN	testis expressed 13A	38							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATAAGGATATATTCTCAAGAT	0.572																																						uc004ema.2		NA																	0				ovary(2)	2						c.(112-114)AAT>AAA		testis expressed sequence 13A							64.0	60.0	61.0					X																	104464968		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464968A>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.114T>A	X.37:g.104464968A>T	ENSP00000399753:p.Asn38Lys					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.N38K	p.N38K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	226	-			38					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.114T>A		.	.	.	.	.	.	.	.	.	.	A	9.372	1.070856	0.20147	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.33	0.65	0.17812	.	0.213346	0.23666	N	0.045779	T	0.49915	0.1585	.	.	.	0.09310	N	1	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.972	T	0.35724	-0.9777	8	0.27082	T	0.32	.	4.7609	0.13108	0.5415:0.0:0.4585:0.0	.	38;38	C9JWK0;Q9BXU3	.;TX13A_HUMAN	K	38	.	ENSP00000361656:N38K	N	-	3	2	TEX13A	104351624	0.035000	0.19736	0.003000	0.11579	0.044000	0.14063	0.119000	0.15626	0.016000	0.14998	0.412000	0.27726	AAT		0.572	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	36	0	0	0	0	6	36				
KIAA1210	57481	broad.mit.edu	37	X	118220567	118220567	+	Silent	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:118220567T>C	ENST00000402510.2	-	11	4625	c.4626A>G	c.(4624-4626)caA>caG	p.Q1542Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1542										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTGCTCTGTTGCTTATCTG	0.498																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(4624-4626)CAA>CAG		hypothetical protein LOC57481							94.0	86.0	89.0					X																	118220567		1920	4107	6027	SO:0001819	synonymous_variant	57481							g.chrX:118220567T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4626A>G	X.37:g.118220567T>C							p.Q1542Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4626	-			1542					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.4626A>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	5.685	0.311039	0.10733	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.95	1.04	0.20106	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	2.9139	0.05746	0.1873:0.2314:0.0:0.5813	.	.	.	.	A	949	.	.	T	-	1	0	KIAA1210	118104595	0.000000	0.05858	0.001000	0.08648	0.298000	0.27526	0.103000	0.15292	-0.022000	0.13986	0.412000	0.27726	ACA		0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		16	94	0	0	0	0	16	94				
SLITRK2	84631	broad.mit.edu	37	X	144904513	144904513	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:144904513G>A	ENST00000370490.1	+	1	4825	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SLITRK2_ENST00000428560.2_Silent_p.G190G|SLITRK2_ENST00000434188.2_Silent_p.G190G|SLITRK2_ENST00000447897.2_Silent_p.G190G|SLITRK2_ENST00000413937.2_Silent_p.G190G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	190					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCAGGGGGAATAGGCTAA	0.468																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(568-570)GGG>GGA		SLIT and NTRK-like family, member 2 precursor							146.0	125.0	132.0					X																	144904513		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904513G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.570G>A	X.37:g.144904513G>A						SLITRK2_uc010nsp.2_Silent_p.G190G|SLITRK2_uc010nso.2_Silent_p.G190G|SLITRK2_uc011mwq.1_Silent_p.G190G|SLITRK2_uc011mwr.1_Silent_p.G190G|SLITRK2_uc011mws.1_Silent_p.G190G|SLITRK2_uc004fcg.2_Silent_p.G190G|SLITRK2_uc011mwt.1_Silent_p.G190G	p.G190G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1560	+	Acute lymphoblastic leukemia(192;6.56e-05)		190			Extracellular (Potential).|LRR 6.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.570G>A	CCDS14680.1																																																																																				0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		11	144	0	0	0	0	11	144				
TP53	7157	broad.mit.edu	37	17	7578183	7578184	+	Frame_Shift_Ins	INS	-	-	GGCT	rs72661118|rs146340390		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:7578183_7578184insGGCT	ENST00000269305.4	-	6	854_855	c.665_666insAGCC	c.(664-666)ccgfs	p.-222fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.-222fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.-222fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.-222fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.-222fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.-222fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223fs*1(3)|p.Y220_P223delYEPP(1)|p.P130fs*1(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.P222Q(1)|p.P222fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGACCTCAGGCGGCTCATAGGG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		38	Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(6)|Substitution - coding silent(5)|Deletion - In frame(2)	p.0?(7)|p.P222P(5)|p.P222L(5)|p.P222T(3)|p.P222S(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.P222Q(1)|p.P222fs*24(1)|p.P222fs*25(1)|p.P222A(1)	biliary_tract(5)|endometrium(5)|ovary(5)|skin(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|upper_aerodigestive_tract(1)|stomach(1)|breast(1)|lung(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(664-666)CCGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578183_7578184insGGCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.662_665dupAGCC	17.37:g.7578184_7578187dupGGCT	ENSP00000269305:p.Pro222fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.P222fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P222fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P90fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P90fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P90fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P222fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P222fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P222fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.P129fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P90fs|TP53_uc010vug.1_Frame_Shift_Ins_p.P183fs	p.P222fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	859_860	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	222		P -> R (in a sporadic cancer; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.665_666insAGCC	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	16	NA	NA	NA	NA	7	16	---	---	---	---
