#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
AUNIP	79000	broad.mit.edu	37	1	26161639	26161639	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:26161639G>C	ENST00000374298.3	-	3	973	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.Q307E	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	307	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											GTTACATCTTGAAAAGGAGCT	0.483																																						uc001bkw.1		NA																	0					0						c.(919-921)CAA>GAA		aurora A-binding protein							173.0	184.0	180.0					1																	26161639		2203	4300	6503	SO:0001583	missense	79000							g.chr1:26161639G>C		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.919C>G	1.37:g.26161639G>C	ENSP00000363416:p.Gln307Glu						p.Q307E	NM_024037	NP_076942	Q9H7T9	CA135_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	3	919	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)	307					C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	c.919C>G	CCDS266.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402793	0.42613	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.47177	0.85;0.85	5.43	5.43	0.79202	.	0.833219	0.10209	N	0.702345	T	0.41373	0.1156	N	0.24115	0.695	0.27307	N	0.957411	P	0.49559	0.925	B	0.43889	0.435	T	0.38178	-0.9673	10	0.62326	D	0.03	5.4983	14.6076	0.68493	0.0:0.0:1.0:0.0	.	307	Q9H7T9	CA135_HUMAN	E	307	ENSP00000443647:Q307E;ENSP00000363416:Q307E	ENSP00000363416:Q307E	Q	-	1	0	C1orf135	26034226	0.994000	0.37717	0.924000	0.36721	0.742000	0.42306	4.856000	0.62932	2.830000	0.97506	0.585000	0.79938	CAA		0.483	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		134	144	0	0	0	0	134	144				
TMEM54	113452	broad.mit.edu	37	1	33360939	33360939	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:33360939C>G	ENST00000373463.3	-	5	680	c.561G>C	c.(559-561)ctG>ctC	p.L187L	TMEM54_ENST00000329151.5_Silent_p.L134L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	187						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGGCCTCAGCTCCAGCA	0.642																																						uc001bwi.1		NA																	0					0						c.(559-561)CTG>CTC		transmembrane protein 54							58.0	46.0	50.0					1																	33360939		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33360939C>G		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.561G>C	1.37:g.33360939C>G						TMEM54_uc001bwj.1_Silent_p.L134L|TMEM54_uc001bwk.1_Silent_p.L167L	p.L187L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			5	675	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	187					Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.561G>C	CCDS371.1																																																																																				0.642	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		12	9	0	0	0	0	12	9				
HIVEP3	59269	broad.mit.edu	37	1	42047150	42047150	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42047150C>T	ENST00000372583.1	-	4	4204	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	HIVEP3_ENST00000372584.1_Missense_Mutation_p.D1107N|HIVEP3_ENST00000247584.5_Missense_Mutation_p.D1107N|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.D1107N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1107					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGCCTGTCCTGCCCTGGG	0.622																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3319-3321)GAC>AAC		human immunodeficiency virus type I enhancer							50.0	59.0	55.0					1																	42047150		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047150C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3319G>A	1.37:g.42047150C>T	ENSP00000361664:p.Asp1107Asn					HIVEP3_uc001cha.3_Missense_Mutation_p.D1107N|HIVEP3_uc001cgy.2_RNA	p.D1107N	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4532	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1107					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3319G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536938	0.27475	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05925	3.38;3.37;3.37;3.38	4.62	4.62	0.57501	.	0.130327	0.34986	N	0.003522	T	0.05502	0.0145	L	0.29908	0.895	0.28832	N	0.897107	B;B	0.23806	0.091;0.055	B;B	0.18561	0.022;0.01	T	0.14727	-1.0462	10	0.37606	T	0.19	0.4694	10.8519	0.46775	0.0:0.9124:0.0:0.0876	.	1107;1107	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	N	1107	ENSP00000361665:D1107N;ENSP00000361664:D1107N;ENSP00000247584:D1107N;ENSP00000410828:D1107N	ENSP00000247584:D1107N	D	-	1	0	HIVEP3	41819737	0.973000	0.33851	1.000000	0.80357	0.701000	0.40568	1.827000	0.39102	2.393000	0.81446	0.313000	0.20887	GAC		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		48	38	0	0	0	0	48	38				
ZFYVE9	9372	broad.mit.edu	37	1	52704848	52704848	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:52704848C>A	ENST00000371591.1	+	3	1890	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.L587I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L587I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	587					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACCTTCTAATCTTAAACTTCA	0.388																																						uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1759-1761)CTT>ATT		zinc finger, FYVE domain containing 9 isoform 3							48.0	49.0	49.0					1																	52704848		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704848C>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1759C>A	1.37:g.52704848C>A	ENSP00000360647:p.Leu587Ile					ZFYVE9_uc001ctn.2_Missense_Mutation_p.L587I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L587I	p.L587I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1931	+			587					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1759C>A	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012817	0.75161	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.59638	0.72;0.25;0.84;0.84	5.4	5.4	0.78164	.	0.000000	0.53938	D	0.000041	T	0.67069	0.2854	L	0.27053	0.805	0.58432	D	0.999994	D;P;D	0.89917	0.998;0.826;1.0	D;B;D	0.85130	0.991;0.407;0.997	T	0.68032	-0.5516	10	0.52906	T	0.07	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	587;587;587	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	I	587	ENSP00000349737:L587I;ENSP00000355358:L587I;ENSP00000287727:L587I;ENSP00000360647:L587I	ENSP00000287727:L587I	L	+	1	0	ZFYVE9	52477436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	2.805000	0.96524	0.655000	0.94253	CTT		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		35	27	1	0	1.22e-17	1.35e-17	35	27				
NBPF10	100132406	broad.mit.edu	37	1	145301751	145301751	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145301751T>A	ENST00000369339.3	+	4	460	c.207T>A	c.(205-207)ttT>ttA	p.F69L	NBPF10_ENST00000369338.1_Missense_Mutation_p.F69L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.F340L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	340						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCATAAAATTTATGCTGAGGA	0.527																																						uc001end.3		NA																	0					0						c.(1018-1020)TTT>TTA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145301751T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.207T>A	1.37:g.145301751T>A	ENSP00000358345:p.Phe69Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.F340L|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.F69L	p.F340L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	7	1055	+	all_hematologic(923;0.032)		340					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1020T>A		.	.	.	.	.	.	.	.	.	.	.	5.605	0.296428	0.10622	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.08634	3.07;4.23	0.616	0.616	0.17613	.	.	.	.	.	T	0.03564	0.0102	M	0.70595	2.14	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.01281	0.0;0.0	T	0.35525	-0.9785	8	0.51188	T	0.08	.	.	.	.	.	69;69	A8MQ30;Q86T75-2	.;.	L	265;69;69;340	ENSP00000358344:F69L;ENSP00000345684:F340L	ENSP00000345684:F340L	F	+	3	2	NBPF10	144013108	0.001000	0.12720	0.017000	0.16124	0.024000	0.10985	-1.027000	0.03592	0.509000	0.28195	0.136000	0.15936	TTT		0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		71	462	0	0	0	0	71	462				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	84	0	0	0	0	3	84				
CERS2	29956	broad.mit.edu	37	1	150940939	150940939	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:150940939G>A	ENST00000271688.6	-	3	609	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.R75W|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.R75W	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	75					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCCGCAGCCGAGTTTTCTCC	0.562																																						uc001evy.2		NA																	0					0						c.(223-225)CGG>TGG		LAG1 longevity assurance 2							75.0	73.0	74.0					1																	150940939		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940939G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.223C>T	1.37:g.150940939G>A	ENSP00000271688:p.Arg75Trp					LASS2_uc001evz.2_Missense_Mutation_p.R75W|LASS2_uc009wmh.2_5'UTR	p.R75W	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	610	-	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		75			Cytoplasmic (Potential).|Homeobox.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.223C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837973	0.71373	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.08	5.08	0.68730	Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.55566	-0.8121	10	0.72032	D	0.01	-19.9162	13.2843	0.60235	0.0:0.0:0.8416:0.1583	.	75	Q96G23	CERS2_HUMAN	W	75;75;95;75;75;75	ENSP00000357950:R75W;ENSP00000271688:R75W;ENSP00000357945:R95W;ENSP00000355020:R75W;ENSP00000393239:R75W;ENSP00000394012:R75W	ENSP00000271688:R75W	R	-	1	2	CERS2	149207563	0.997000	0.39634	0.996000	0.52242	0.782000	0.44232	2.567000	0.45956	2.646000	0.89796	0.655000	0.94253	CGG		0.562	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		16	62	0	0	0	0	16	62				
LINGO4	339398	broad.mit.edu	37	1	151774265	151774265	+	Missense_Mutation	SNP	G	G	A	rs200962386	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:151774265G>A	ENST00000368820.3	-	2	1853	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	306						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGACAGGCGTAGCTCCTGG	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17340	0.001		0.0	False		,,,				2504	0.0					uc001ezf.1		NA																	0				large_intestine(1)	1						c.(916-918)CGC>TGC		leucine rich repeat and Ig domain containing 4							63.0	66.0	65.0					1																	151774265		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774265G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.916C>T	1.37:g.151774265G>A	ENSP00000357810:p.Arg306Cys						p.R306C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1106	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		306			Extracellular (Potential).|LRR 10.			Missense_Mutation	SNP	ENST00000368820.3	37	c.916C>T	CCDS30855.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.88	2.963785	0.53507	.	.	ENSG00000213171	ENST00000368820	T	0.58060	0.36	5.51	4.58	0.56647	.	0.168696	0.29087	N	0.013192	T	0.59266	0.2181	M	0.81802	2.56	0.39522	D	0.968527	D	0.76494	0.999	P	0.61658	0.892	T	0.63323	-0.6663	10	0.39692	T	0.17	.	10.9748	0.47459	0.0:0.0:0.6473:0.3527	.	306	Q6UY18	LIGO4_HUMAN	C	306	ENSP00000357810:R306C	ENSP00000357810:R306C	R	-	1	0	LINGO4	150040889	1.000000	0.71417	0.590000	0.28732	0.976000	0.68499	6.373000	0.73128	1.505000	0.48720	0.561000	0.74099	CGC		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		10	55	0	0	0	0	10	55				
RPTN	126638	broad.mit.edu	37	1	152128885	152128885	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152128885C>T	ENST00000316073.3	-	3	754	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTTTCACACCGATTTAAGG	0.418																																						uc001ezs.1		NA																	0					0						c.(688-690)CGG>CGA		repetin							245.0	206.0	218.0					1																	152128885		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128885C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.690G>A	1.37:g.152128885C>T							p.R230R	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	755	-			230			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.690G>A	CCDS41397.1																																																																																				0.418	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		81	173	0	0	0	0	81	173				
HRNR	388697	broad.mit.edu	37	1	152187530	152187530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:152187530G>T	ENST00000368801.2	-	3	6650	c.6575C>A	c.(6574-6576)tCg>tAg	p.S2192*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2192					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.632																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6574-6576)TCG>TAG		hornerin							55.0	71.0	66.0					1																	152187530		2173	4287	6460	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187530G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6575C>A	1.37:g.152187530G>T	ENSP00000357791:p.Ser2192*						p.S2192*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6651	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2192			24		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6575C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.999442	0.99501	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.28	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	5.5367	0.17016	0.2622:0.0:0.7378:0.0	.	.	.	.	X	2192	.	ENSP00000357791:S2192X	S	-	2	0	HRNR	150454154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.699000	0.05087	0.715000	0.32103	0.558000	0.71614	TCG		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	379	1	0	3.6e-14	3.96e-14	7	379				
HMCN1	83872	broad.mit.edu	37	1	185815158	185815158	+	Splice_Site	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:185815158A>T	ENST00000271588.4	+	2	498	c.269A>T	c.(268-270)gAa>gTa	p.E90V	HMCN1_ENST00000367492.2_Splice_Site_p.E90V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	90	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTTCACAGAAATTGGCCCA	0.363																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(268-270)GAA>GTA		hemicentin 1 precursor							102.0	100.0	101.0					1																	185815158		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815158A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.269-1A>T	1.37:g.185815158A>T							p.E90V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			2	498	+			90			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.269A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353264	0.61293	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.12879	2.64;2.64	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17349	-1.0372	9	.	.	.	.	13.0948	0.59187	1.0:0.0:0.0:0.0	.	90	Q96RW7	HMCN1_HUMAN	V	90	ENSP00000271588:E90V;ENSP00000356462:E90V	.	E	+	2	0	HMCN1	184081781	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.072000	0.62099	0.460000	0.39030	GAA		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	6	44	0	0	0	0	6	44				
HMCN1	83872	broad.mit.edu	37	1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	rs150673369		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:186084057C>T	ENST00000271588.4	+	74	11612	c.11383C>T	c.(11383-11385)Cga>Tga	p.R3795*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3795*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R3795*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATCGCAGGCGAATAGATTT	0.423																																						uc001grq.1		NA																	2	Substitution - Nonsense(2)	p.R3795*(1)	ovary(1)|prostate(1)	ovary(22)|skin(1)	23						c.(11383-11385)CGA>TGA		hemicentin 1 precursor		C	stop/ARG	0,4406		0,0,2203	174.0	168.0	170.0		11383	0.4	0.9	1	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HMCN1	NM_031935.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3795/5636	186084057	1,13005	2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084057C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11383C>T	1.37:g.186084057C>T	ENSP00000271588:p.Arg3795*						p.R3795*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			74	11612	+			3795			Ig-like C2-type 36.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.11383C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	53	21.554364	0.99941	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.03	0.405	0.16361	.	0.167438	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.0711	0.59061	0.5598:0.4402:0.0:0.0	.	.	.	.	X	3795	.	ENSP00000271588:R3795X	R	+	1	2	HMCN1	184350680	0.999000	0.42202	0.947000	0.38551	0.974000	0.67602	0.735000	0.26115	0.176000	0.19873	0.563000	0.77884	CGA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	154	0	0	0	0	7	154				
WNT9A	7483	broad.mit.edu	37	1	228109319	228109319	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:228109319C>T	ENST00000272164.5	-	4	1008	c.998G>A	c.(997-999)cGg>cAg	p.R333Q		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	333					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R333Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652																																						uc001hri.2		NA																	1	Substitution - Missense(1)		skin(1)	central_nervous_system(1)|pancreas(1)	2						c.(997-999)CGG>CAG		wingless-type MMTV integration site family,							49.0	44.0	46.0					1																	228109319		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109319C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.998G>A	1.37:g.228109319C>T	ENSP00000272164:p.Arg333Gln						p.R333Q	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	1086	-		Prostate(94;0.0405)	333					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.998G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197776	0.94997	.	.	ENSG00000143816	ENST00000272164	T	0.75260	-0.92	4.64	4.64	0.57946	.	0.062472	0.64402	D	0.000006	T	0.73345	0.3575	L	0.35542	1.07	0.80722	D	1	D	0.58620	0.983	P	0.54924	0.764	T	0.68345	-0.5433	10	0.15499	T	0.54	.	16.6575	0.85232	0.0:1.0:0.0:0.0	.	333	O14904	WNT9A_HUMAN	Q	333	ENSP00000272164:R333Q	ENSP00000272164:R333Q	R	-	2	0	WNT9A	226175942	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.784000	0.55416	2.414000	0.81942	0.484000	0.47621	CGG		0.652	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		8	38	0	0	0	0	8	38				
RBM34	23029	broad.mit.edu	37	1	235324512	235324512	+	Missense_Mutation	SNP	C	C	G	rs531978682		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:235324512C>G	ENST00000408888.3	-	1	260	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RBM34_ENST00000366606.3_Missense_Mutation_p.K5N			P42696	RBM34_HUMAN	RNA binding motif protein 34	10						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTCTTTCTCTTCCGTTTGC	0.622																																						uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(28-30)AAG>AAC		RNA binding motif protein 34 isoform 1							139.0	158.0	152.0					1																	235324512		2091	4196	6287	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235324512C>G		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.30G>C	1.37:g.235324512C>G	ENSP00000386226:p.Lys10Asn					RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.K10N	p.K10N	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		1	60	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	10					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.30G>C	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475925	0.63737	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000400947;ENST00000447801;ENST00000429912	T;T;T	0.22539	2.04;2.09;1.95	4.54	3.61	0.41365	.	0.537323	0.18549	N	0.137980	T	0.25791	0.0628	L	0.59436	1.845	0.33996	D	0.649736	P;B	0.48016	0.904;0.11	P;B	0.45829	0.494;0.054	T	0.44498	-0.9324	10	0.72032	D	0.01	-0.4412	9.927	0.41498	0.2036:0.7964:0.0:0.0	.	10;10	P42696-2;P42696	.;RBM34_HUMAN	N	10;5;10;8;10	ENSP00000386226:K10N;ENSP00000355565:K5N;ENSP00000400000:K8N	ENSP00000355565:K5N	K	-	3	2	RBM34	233391135	0.064000	0.20934	0.020000	0.16555	0.008000	0.06430	0.971000	0.29396	1.213000	0.43380	-0.293000	0.09583	AAG		0.622	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		60	116	0	0	0	0	60	116				
OR2G2	81470	broad.mit.edu	37	1	247752273	247752273	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:247752273G>A	ENST00000320065.1	+	1	612	c.612G>A	c.(610-612)gtG>gtA	p.V204V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	204						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(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTTTTTGTGGCTAGTATCC	0.512																																						uc010pyy.1		NA																	0					0						c.(610-612)GTG>GTA		olfactory receptor, family 2, subfamily G,							144.0	157.0	153.0					1																	247752273		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752273G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.612G>A	1.37:g.247752273G>A							p.V204V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	612	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		204			Helical; Name=5; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.612G>A	CCDS31092.1																																																																																				0.512	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			19	80	0	0	0	0	19	80				
CUBN	8029	broad.mit.edu	37	10	17113504	17113504	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:17113504G>A	ENST00000377833.4	-	19	2611	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	849	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCTTTGGGGCTGGTGGAT	0.458																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2545-2547)CCC>CTC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						88.0	88.0	88.0					10																	17113504		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113504G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2546C>T	10.37:g.17113504G>A	ENSP00000367064:p.Pro849Leu						p.P849L	NM_001081	NP_001072	O60494	CUBN_HUMAN			19	2598	-			849			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2546C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315128	0.60524	.	.	ENSG00000107611	ENST00000377833	T	0.42131	0.98	5.47	5.47	0.80525	CUB (5);	0.000000	0.40064	N	0.001190	T	0.68100	0.2964	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.72253	-0.4347	10	0.87932	D	0	.	19.3782	0.94519	0.0:0.0:1.0:0.0	.	849	O60494	CUBN_HUMAN	L	849	ENSP00000367064:P849L	ENSP00000367064:P849L	P	-	2	0	CUBN	17153510	1.000000	0.71417	0.726000	0.30738	0.039000	0.13416	8.414000	0.90238	2.576000	0.86940	0.502000	0.49764	CCC		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		3	63	0	0	0	0	3	63				
RHOBTB1	9886	broad.mit.edu	37	10	62648790	62648790	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:62648790C>T	ENST00000337910.5	-	6	973	c.636G>A	c.(634-636)agG>agA	p.R212R	RHOBTB1_ENST00000357917.4_Silent_p.R212R	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	212					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTGCAGGTGCCTGCGGGAAA	0.473																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(634-636)AGG>AGA		Rho-related BTB domain containing 1							173.0	183.0	179.0					10																	62648790		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648790C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.636G>A	10.37:g.62648790C>T						RHOBTB1_uc001jlh.2_Silent_p.R212R|RHOBTB1_uc001jlj.2_Silent_p.R212R|RHOBTB1_uc001jlk.2_Silent_p.R212R|RHOBTB1_uc009xpe.1_Silent_p.R150R|RHOBTB1_uc001jll.2_5'UTR	p.R212R	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1074	-	Prostate(12;0.0112)		212						Silent	SNP	ENST00000337910.5	37	c.636G>A	CCDS7261.1																																																																																				0.473	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			47	174	0	0	0	0	47	174				
WAPAL	23063	broad.mit.edu	37	10	88203112	88203112	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:88203112G>A	ENST00000298767.5	-	17	3803	c.3331C>T	c.(3331-3333)Cat>Tat	p.H1111Y	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Missense_Mutation_p.H323Y|WAPAL_ENST00000263070.7_Missense_Mutation_p.H323Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1111	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGCCGGCATGCTGAAGGGCT	0.398																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(3331-3333)CAT>TAT		wings apart-like homolog							111.0	101.0	104.0					10																	88203112		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88203112G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3331C>T	10.37:g.88203112G>A	ENSP00000298767:p.His1111Tyr					WAPAL_uc009xsv.2_Missense_Mutation_p.H370Y|WAPAL_uc001kdn.2_Missense_Mutation_p.H1148Y|WAPAL_uc009xsw.2_Missense_Mutation_p.H1105Y	p.H1111Y	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			17	3773	-			1111			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.3331C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517616	0.85495	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.37235	1.21;1.21;1.21	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.54323	1.7	0.80722	D	1	P;D;P;D	0.71674	0.946;0.997;0.946;0.998	P;D;P;D	0.80764	0.509;0.927;0.509;0.994	T	0.58440	-0.7636	10	0.62326	D	0.03	.	19.1738	0.93594	0.0:0.0:1.0:0.0	.	1105;1149;1111;1148	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	Y	1196;1111;1196;323;323	ENSP00000298767:H1111Y;ENSP00000361145:H323Y;ENSP00000263070:H323Y	ENSP00000263070:H323Y	H	-	1	0	WAPAL	88193092	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.793000	0.99091	2.532000	0.85374	0.555000	0.69702	CAT		0.398	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		10	45	0	0	0	0	10	45				
KCNIP2	30819	broad.mit.edu	37	10	103588905	103588905	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103588905C>A	ENST00000356640.2	-	4	550	c.275G>T	c.(274-276)gGt>gTt	p.G92V	KCNIP2_ENST00000358038.3_Missense_Mutation_p.G74V|KCNIP2_ENST00000353068.3_Missense_Mutation_p.G42V|KCNIP2_ENST00000348850.5_Missense_Mutation_p.G47V|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000461105.1_Missense_Mutation_p.G107V|KCNIP2_ENST00000343195.4_Missense_Mutation_p.G42V|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000370046.1_Missense_Mutation_p.G42V	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CTGCTCCAGACCCTCAGGCCG	0.617																																						uc001kub.2		NA																	0					0						c.(274-276)GGT>GTT		Kv channel interacting protein 2 isoform 2							81.0	66.0	71.0					10																	103588905		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588905C>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.275G>T	10.37:g.103588905C>A	ENSP00000349055:p.Gly92Val					KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.V14F|KCNIP2_uc001ktz.2_Missense_Mutation_p.G47V|KCNIP2_uc009xwu.2_Missense_Mutation_p.G42V|KCNIP2_uc009xwv.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuc.2_Missense_Mutation_p.G107V|KCNIP2_uc001kue.2_Missense_Mutation_p.G74V|KCNIP2_uc001kud.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuf.2_Missense_Mutation_p.G42V|KCNIP2_uc001kua.2_Missense_Mutation_p.V14F|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.G47V|KCNIP2_uc010qqi.1_Missense_Mutation_p.G42V	p.G92V	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	4	627	-		Colorectal(252;0.122)	92			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.275G>T	CCDS7522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.473465|4.473465	0.84640|0.84640	.|.	.|.	ENSG00000120049|ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117|ENST00000359877;ENST00000434163	T;T;T;T;T;T;T;T|T	0.21734|0.72942	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99|-0.7	5.1|5.1	5.1|5.1	0.69264|0.69264	EF-hand-like domain (1);|.	0.254289|.	0.38605|.	N|.	0.001624|.	T|T	0.61286|0.61286	0.2335|0.2335	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	B;P;P;P;P;P;P;D;D;P|B;B	0.62365|0.31351	0.317;0.903;0.9;0.839;0.9;0.948;0.607;0.991;0.966;0.833|0.07;0.32	B;P;P;P;P;P;P;P;P;B|B;B	0.60173|0.34931	0.205;0.824;0.792;0.625;0.792;0.792;0.792;0.87;0.58;0.441|0.123;0.192	T|T	0.57283|0.57283	-0.7838|-0.7838	10|9	0.22109|0.12766	T|T	0.4|0.61	.|.	18.1289|18.1289	0.89595|0.89595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	42;47;42;42;42;74;42;107;92;47|14;23	Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6|B3KSZ5;Q9NS61-8	.;.;.;.;.;.;.;.;KCIP2_HUMAN;.|.;.	V|F	47;74;74;92;42;42;107;42;42|14;23	ENSP00000239118:G47V;ENSP00000350733:G74V;ENSP00000349055:G92V;ENSP00000359063:G42V;ENSP00000341624:G42V;ENSP00000420040:G107V;ENSP00000344169:G42V;ENSP00000239117:G42V|ENSP00000411679:V23F	ENSP00000239117:G42V|ENSP00000352940:V14F	G|V	-|-	2|1	0|0	KCNIP2|KCNIP2	103578895|103578895	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.974000|0.974000	0.67602|0.67602	5.928000|5.928000	0.70088|0.70088	2.379000|2.379000	0.81126|0.81126	0.561000|0.561000	0.74099|0.74099	GGT|GTC		0.617	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			7	18	1	0	5.18e-06	5.47e-06	7	18				
PPRC1	23082	broad.mit.edu	37	10	103901291	103901291	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:103901291G>A	ENST00000278070.2	+	5	3065	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	PPRC1_ENST00000413464.2_Missense_Mutation_p.R1009K|PPRC1_ENST00000370012.1_5'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1009	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCATTGGGAGAGCTGTTCCC	0.572																																						uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3025-3027)AGA>AAA		peroxisome proliferator-activated receptor							48.0	50.0	49.0					10																	103901291		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901291G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3026G>A	10.37:g.103901291G>A	ENSP00000278070:p.Arg1009Lys					PPRC1_uc001kun.2_Missense_Mutation_p.R889K|PPRC1_uc010qqj.1_Missense_Mutation_p.R1009K|PPRC1_uc009xxa.2_RNA	p.R1009K	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	3065	+		Colorectal(252;0.122)	1009			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3026G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037085	0.19669	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.22336	1.97;1.96	5.79	3.9	0.45041	.	0.268166	0.26542	N	0.023792	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	1	B;P;B	0.36249	0.41;0.545;0.41	B;B;B	0.35770	0.138;0.21;0.104	T	0.12967	-1.0527	10	0.32370	T	0.25	.	3.6661	0.08257	0.08:0.1462:0.4712:0.3026	.	1009;889;1009	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	K	1009	ENSP00000278070:R1009K;ENSP00000399743:R1009K	ENSP00000278070:R1009K	R	+	2	0	PPRC1	103891281	0.810000	0.29049	1.000000	0.80357	0.370000	0.29829	1.928000	0.40104	1.416000	0.47057	0.462000	0.41574	AGA		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	40	0	0	0	0	9	40				
SHOC2	8036	broad.mit.edu	37	10	112760233	112760233	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:112760233G>C	ENST00000369452.4	+	4	1247	c.902G>C	c.(901-903)aGa>aCa	p.R301T	SHOC2_ENST00000265277.5_Missense_Mutation_p.R255T|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	301					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAATACCCAGATCATTAGCA	0.323																																						uc001kzl.3		NA																	0				ovary(1)|skin(1)	2						c.(901-903)AGA>ACA		soc-2 suppressor of clear homolog							118.0	118.0	118.0					10																	112760233		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112760233G>C	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.902G>C	10.37:g.112760233G>C	ENSP00000358464:p.Arg301Thr					SHOC2_uc009xxx.2_Missense_Mutation_p.R301T|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Missense_Mutation_p.R255T	p.R301T	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	4	1251	+			301			LRR 9.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.902G>C	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374684	0.24857	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.57752	0.38;0.38;0.38	5.46	5.46	0.80206	.	0.046801	0.85682	D	0.000000	T	0.40595	0.1123	N	0.25890	0.77	0.49483	D	0.999798	B;B	0.30851	0.039;0.297	B;B	0.34452	0.018;0.183	T	0.22941	-1.0202	10	0.20046	T	0.44	.	13.0486	0.58942	0.0842:0.0:0.9158:0.0	.	255;301	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	T	255;301;91	ENSP00000265277:R255T;ENSP00000358464:R301T;ENSP00000408275:R91T	ENSP00000265277:R255T	R	+	2	0	SHOC2	112750223	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.707000	0.54838	2.556000	0.86216	0.491000	0.48974	AGA		0.323	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		11	38	0	0	0	0	11	38				
PRMT3	10196	broad.mit.edu	37	11	20483563	20483563	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:20483563G>T	ENST00000331079.6	+	12	1327	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	PRMT3_ENST00000437750.2_Silent_p.V308V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	370	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGTAGCAGTGAGTGATGTGA	0.373																																						uc001mqb.2		NA																	0					0						c.(1108-1110)GTG>GTT		protein arginine methyltransferase 3 isoform 1							177.0	168.0	171.0					11																	20483563		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20483563G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1110G>T	11.37:g.20483563G>T						PRMT3_uc001mqc.2_Silent_p.V293V|PRMT3_uc010rdn.1_Silent_p.V308V	p.V370V	NM_005788	NP_005779	O60678	ANM3_HUMAN			12	1327	+			370					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.1110G>T	CCDS7853.1																																																																																				0.373	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		23	93	1	0	9.58e-11	1.05e-10	23	93				
CCDC34	91057	broad.mit.edu	37	11	27362349	27362349	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:27362349C>G	ENST00000328697.6	-	5	1474	c.801G>C	c.(799-801)gaG>gaC	p.E267D	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	267										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TTTCCTTTTTCTCCTGTATTT	0.343																																						uc001mrh.1		NA																	0					0						c.(799-801)GAG>GAC		coiled-coil domain containing 34 isoform 1							171.0	158.0	162.0					11																	27362349		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27362349C>G	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.801G>C	11.37:g.27362349C>G	ENSP00000330240:p.Glu267Asp						p.E267D	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			5	855	-			267			Potential.		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.801G>C	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410223	0.42715	.	.	ENSG00000109881	ENST00000328697	T	0.25749	1.78	6.07	-0.694	0.11294	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.50333	1.59	0.80722	D	1	D	0.52996	0.957	D	0.63283	0.913	T	0.05666	-1.0871	10	0.48119	T	0.1	-9.635	8.296	0.31986	0.1243:0.5992:0.0:0.2765	.	267	Q96HJ3	CCD34_HUMAN	D	267	ENSP00000330240:E267D	ENSP00000330240:E267D	E	-	3	2	CCDC34	27318925	0.955000	0.32602	0.999000	0.59377	0.992000	0.81027	-0.102000	0.10956	0.060000	0.16281	-0.140000	0.14226	GAG		0.343	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		16	46	0	0	0	0	16	46				
DCDC1	341019	broad.mit.edu	37	11	31329370	31329370	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:31329370G>C	ENST00000452803.1	-	4	451	c.250C>G	c.(250-252)Cat>Gat	p.H84D	DCDC1_ENST00000597505.1_Missense_Mutation_p.H84D|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTGCTGAATGCACGAGTCTG	0.423																																						uc001msv.2		NA																	0				skin(1)	1						c.(250-252)CAT>GAT		doublecortin domain containing 1							258.0	240.0	246.0					11																	31329370		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31329370G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.250C>G	11.37:g.31329370G>C	ENSP00000389792:p.His84Asp					DCDC1_uc001msu.1_5'UTR	p.H84D	NM_181807	NP_861523	P59894	DCDC1_HUMAN			4	452	-	Lung SC(675;0.225)		84					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.250C>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489020	0.26686	.	.	ENSG00000188682	ENST00000452803	T	0.31769	1.48	5.9	2.98	0.34508	.	0.340228	0.25445	N	0.030631	T	0.19565	0.0470	L	0.29908	0.895	0.25041	N	0.991208	B	0.09022	0.002	B	0.12156	0.007	T	0.14587	-1.0467	10	0.33141	T	0.24	.	6.9354	0.24463	0.2002:0.1251:0.6747:0.0	.	84	P59894	DCDC1_HUMAN	D	84	ENSP00000389792:H84D	ENSP00000343496:H84D	H	-	1	0	DCDC1	31285946	0.992000	0.36948	0.992000	0.48379	0.702000	0.40608	2.164000	0.42387	0.812000	0.34326	0.650000	0.86243	CAT		0.423	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		39	149	0	0	0	0	39	149				
QSER1	79832	broad.mit.edu	37	11	32956153	32956153	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956153G>C	ENST00000399302.2	+	4	3297	c.2962G>C	c.(2962-2964)Gaa>Caa	p.E988Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E749Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	988										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTGAATCTGAAGAAGACAG	0.393																																						uc001mty.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2962-2964)GAA>CAA		glutamine and serine rich 1							62.0	60.0	61.0					11																	32956153		1856	4098	5954	SO:0001583	missense	79832							g.chr11:32956153G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2962G>C	11.37:g.32956153G>C	ENSP00000382241:p.Glu988Gln					QSER1_uc001mtz.1_Missense_Mutation_p.E749Q|QSER1_uc001mua.2_Missense_Mutation_p.E493Q	p.E988Q	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3229	+	Breast(20;0.158)		988					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.2962G>C	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250155	0.39797	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.31769	1.84;1.48	5.69	4.77	0.60923	.	0.145635	0.47455	D	0.000226	T	0.39489	0.1080	L	0.60455	1.87	0.27496	N	0.952123	P;D;P	0.55385	0.952;0.971;0.914	P;P;B	0.50825	0.579;0.651;0.355	T	0.30880	-0.9963	10	0.48119	T	0.1	.	12.1108	0.53838	0.0803:0.0:0.9197:0.0	.	749;749;988	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	Q	988;749;749	ENSP00000382241:E988Q;ENSP00000432766:E749Q	ENSP00000078652:E749Q	E	+	1	0	QSER1	32912729	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	3.081000	0.50120	1.380000	0.46344	0.561000	0.74099	GAA		0.393	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		14	46	0	0	0	0	14	46				
QSER1	79832	broad.mit.edu	37	11	32956461	32956461	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956461G>C	ENST00000399302.2	+	4	3605	c.3270G>C	c.(3268-3270)caG>caC	p.Q1090H	QSER1_ENST00000527788.1_Missense_Mutation_p.Q851H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1090										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGTAATCAGAAACAGCTGA	0.398																																						uc001mty.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3268-3270)CAG>CAC		glutamine and serine rich 1							91.0	90.0	91.0					11																	32956461		1905	4119	6024	SO:0001583	missense	79832							g.chr11:32956461G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3270G>C	11.37:g.32956461G>C	ENSP00000382241:p.Gln1090His					QSER1_uc001mtz.1_Missense_Mutation_p.Q851H|QSER1_uc001mua.2_Missense_Mutation_p.Q595H	p.Q1090H	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3537	+	Breast(20;0.158)		1090					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3270G>C	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.04|13.04	2.117422|2.117422	0.37339|0.37339	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.24538|.	2.17;1.85|.	5.7|5.7	-0.776|-0.776	0.10984|0.10984	.|.	0.621363|.	0.15304|.	N|.	0.269442|.	T|T	0.55909|0.55909	0.1950|0.1950	L|L	0.57536|0.57536	1.79|1.79	0.38350|0.38350	D|D	0.944306|0.944306	P;P;P|.	0.51791|.	0.904;0.948;0.681|.	P;P;B|.	0.50192|.	0.634;0.54;0.315|.	T|T	0.53570|0.53570	-0.8420|-0.8420	10|5	0.40728|.	T|.	0.16|.	.|.	6.927|6.927	0.24419|0.24419	0.3737:0.1071:0.5192:0.0|0.3737:0.1071:0.5192:0.0	.|.	851;851;1090|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|T	1090;851;851|111	ENSP00000382241:Q1090H;ENSP00000432766:Q851H|.	ENSP00000078652:Q851H|.	Q|R	+|+	3|2	2|0	QSER1|QSER1	32913037|32913037	0.978000|0.978000	0.34361|0.34361	0.972000|0.972000	0.41901|0.41901	0.915000|0.915000	0.54546|0.54546	1.277000|1.277000	0.33167|0.33167	-0.138000|-0.138000	0.11434|0.11434	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.398	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		21	82	0	0	0	0	21	82				
QSER1	79832	broad.mit.edu	37	11	32956840	32956840	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:32956840G>C	ENST00000399302.2	+	4	3984	c.3649G>C	c.(3649-3651)Gat>Cat	p.D1217H	QSER1_ENST00000527788.1_Missense_Mutation_p.D978H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1217										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGATAAAGTTGATAATGAACT	0.398																																						uc001mty.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3649-3651)GAT>CAT		glutamine and serine rich 1							124.0	124.0	124.0					11																	32956840		1846	4089	5935	SO:0001583	missense	79832							g.chr11:32956840G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3649G>C	11.37:g.32956840G>C	ENSP00000382241:p.Asp1217His					QSER1_uc001mtz.1_Missense_Mutation_p.D978H|QSER1_uc001mua.2_Missense_Mutation_p.D722H	p.D1217H	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3916	+	Breast(20;0.158)		1217					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3649G>C	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.240060|1.240060	0.22711|0.22711	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.37752|.	1.53;1.18|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.077454|.	0.52532|.	D|.	0.000064|.	T|T	0.74589|0.74589	0.3736|0.3736	M|M	0.79258|0.79258	2.445|2.445	0.54753|0.54753	D|D	0.999983|0.999983	D;D;D|.	0.71674|.	0.997;0.998;0.97|.	D;D;P|.	0.68353|.	0.912;0.957;0.554|.	T|T	0.75676|0.75676	-0.3235|-0.3235	10|5	0.87932|.	D|.	0|.	.|.	13.2975|13.2975	0.60305|0.60305	0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0	.|.	978;978;1217|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|F	1217;978;978|237	ENSP00000382241:D1217H;ENSP00000432766:D978H|.	ENSP00000078652:D978H|.	D|L	+|+	1|3	0|2	QSER1|QSER1	32913416|32913416	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.026000|0.026000	0.11368|0.11368	6.261000|6.261000	0.72509|0.72509	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	GAT|TTG		0.398	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		35	136	0	0	0	0	35	136				
ACP2	53	broad.mit.edu	37	11	47261735	47261735	+	Missense_Mutation	SNP	C	C	T	rs4647764	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47261735C>T	ENST00000256997.3	-	11	1320	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	ACP2_ENST00000533929.1_Missense_Mutation_p.V374I|ACP2_ENST00000537863.1_Missense_Mutation_p.V215I|ACP2_ENST00000527256.1_Missense_Mutation_p.V370I|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.V339I	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	402			V -> I (in dbSNP:rs4647764).		dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CGGAAGAGGACGGTGAGGAGC	0.612																																					Melanoma(90;262 1440 11488 44828 48531)	uc001nei.2		NA																	0				ovary(1)	1						c.(1204-1206)GTC>ATC		acid phosphatase 2, lysosomal isoform 1							111.0	79.0	90.0					11																	47261735		2201	4298	6499	SO:0001583	missense	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47261735C>T	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.1204G>A	11.37:g.47261735C>T	ENSP00000256997:p.Val402Ile					ACP2_uc010rhe.1_Missense_Mutation_p.V374I|ACP2_uc009ylj.2_Missense_Mutation_p.V330I|ACP2_uc010rhf.1_Missense_Mutation_p.V370I|ACP2_uc010rhg.1_Missense_Mutation_p.V339I|ACP2_uc010rhh.1_Missense_Mutation_p.V215I	p.V402I	NM_001610	NP_001601	P11117	PPAL_HUMAN			11	1321	-			402			Cytoplasmic (Potential).		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.1204G>A	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717213	0.30413	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929	T;T;T;T;T	0.11604	3.11;2.96;3.1;2.76;2.95	5.66	1.68	0.24146	.	0.376514	0.29383	N	0.012308	T	0.05686	0.0149	N	0.14661	0.345	0.30529	N	0.767592	B;B;B;B	0.16166	0.004;0.002;0.016;0.002	B;B;B;B	0.08055	0.003;0.001;0.003;0.001	T	0.32798	-0.9893	10	0.20046	T	0.44	.	9.7176	0.40284	0.0:0.73:0.0:0.27	rs4647764;rs4647764	339;370;374;402	E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;PPAL_HUMAN	I	402;339;370;215;392;374	ENSP00000256997:V402I;ENSP00000436658:V339I;ENSP00000432205:V370I;ENSP00000441933:V215I;ENSP00000432439:V374I	ENSP00000256997:V402I	V	-	1	0	ACP2	47218311	0.981000	0.34729	0.937000	0.37676	0.991000	0.79684	1.267000	0.33050	0.059000	0.16252	-0.229000	0.12294	GTC		0.612	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		9	40	0	0	0	0	9	40				
NDUFS3	4722	broad.mit.edu	37	11	47600853	47600853	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:47600853G>A	ENST00000263774.4	+	2	182	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	NDUFS3_ENST00000534208.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000528192.1_Missense_Mutation_p.V34M|KBTBD4_ENST00000430070.2_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_5'Flank|KBTBD4_ENST00000525720.1_5'Flank|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000529276.1_Missense_Mutation_p.V34M|NDUFS3_ENST00000534716.2_Missense_Mutation_p.V34M|KBTBD4_ENST00000526005.1_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	34					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GTTGCTGCCGGTGAGGCGGGA	0.667																																					Pancreas(15;551 601 22438 23457 52512)	uc001nga.2		NA																	0					0						c.(100-102)GTG>ATG		NADH dehydrogenase (ubiquinone) Fe-S protein 3	NADH(DB00157)						51.0	61.0	58.0					11																	47600853		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47600853G>A	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.100G>A	11.37:g.47600853G>A	ENSP00000263774:p.Val34Met					NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_5'Flank|KBTBD4_uc001nfx.2_5'Flank|KBTBD4_uc001nfz.2_5'Flank|KBTBD4_uc001nfy.2_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.V34M	p.V34M	NM_004551	NP_004542	O75489	NDUS3_HUMAN			2	182	+			34					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.100G>A	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823587	0.50739	.	.	ENSG00000213619	ENST00000263774;ENST00000529276;ENST00000528192;ENST00000534208;ENST00000534716	T;T	0.77620	-1.11;1.48	5.77	2.81	0.32909	.	0.624981	0.16399	N	0.216088	T	0.67230	0.2871	L	0.43152	1.355	0.20703	N	0.999866	B;B	0.20261	0.043;0.011	B;B	0.21151	0.033;0.003	T	0.57189	-0.7854	10	0.42905	T	0.14	-14.4047	6.7505	0.23485	0.1585:0.1473:0.6942:0.0	.	34;34	B4DFM8;O75489	.;NDUS3_HUMAN	M	34	ENSP00000263774:V34M;ENSP00000432099:V34M	ENSP00000263774:V34M	V	+	1	0	NDUFS3	47557429	0.679000	0.27596	0.574000	0.28523	0.550000	0.35303	0.771000	0.26633	0.860000	0.35481	0.655000	0.94253	GTG		0.667	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		4	55	0	0	0	0	4	55				
OR5D13	390142	broad.mit.edu	37	11	55540942	55540942	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:55540942G>C	ENST00000361760.1	+	1	29	c.29G>C	c.(28-30)aGc>aCc	p.S10T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATCAAAGCAGCACACCCACT	0.383																																						uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(28-30)AGC>ACC		olfactory receptor, family 5, subfamily D,							100.0	102.0	101.0					11																	55540942		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540942G>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.29G>C	11.37:g.55540942G>C	ENSP00000354800:p.Ser10Thr						p.S10T	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	29	+		all_epithelial(135;0.196)	10			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.29G>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173483	0.01646	.	.	ENSG00000198877	ENST00000361760	T	0.00325	8.1	3.43	-4.25	0.03766	.	19.982900	0.00357	U	0.000027	T	0.00144	0.0004	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36986	-0.9725	10	0.15952	T	0.53	0.3239	7.2813	0.26312	0.0:0.4141:0.2936:0.2923	.	10	Q8NGL4	OR5DD_HUMAN	T	10	ENSP00000354800:S10T	ENSP00000354800:S10T	S	+	2	0	OR5D13	55297518	0.017000	0.18338	0.000000	0.03702	0.005000	0.04900	0.682000	0.25335	-0.834000	0.04239	0.486000	0.48141	AGC		0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	85	0	0	0	0	24	85				
MS4A3	932	broad.mit.edu	37	11	59828723	59828723	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:59828723T>C	ENST00000278865.3	+	2	163	c.90T>C	c.(88-90)aaT>aaC	p.N30N	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Silent_p.N30N|MS4A3_ENST00000358152.2_Silent_p.N30N|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	30						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAGAGCTGAATACTTCTGTCT	0.478																																						uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(88-90)AAT>AAC		membrane-spanning 4-domains, subfamily A, member							109.0	103.0	105.0					11																	59828723		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828723T>C	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.90T>C	11.37:g.59828723T>C						MS4A3_uc001non.2_Silent_p.N30N|MS4A3_uc001noo.2_Intron	p.N30N	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	218	+		all_epithelial(135;0.245)	30			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.90T>C	CCDS31567.1																																																																																				0.478	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			35	58	0	0	0	0	35	58				
SLC29A2	3177	broad.mit.edu	37	11	66136984	66136984	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66136984G>A	ENST00000357440.2	-	3	359	c.131C>T	c.(130-132)gCc>gTc	p.A44V	SLC29A2_ENST00000311161.7_Missense_Mutation_p.A44V|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A44V|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A44V	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	44					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCCGGCCCCGGCCAGTCGCGC	0.627																																						uc001oht.2		NA																	0				ovary(1)	1						c.(130-132)GCC>GTC		solute carrier family 29 (nucleoside							132.0	138.0	136.0					11																	66136984		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136984G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.131C>T	11.37:g.66136984G>A	ENSP00000350024:p.Ala44Val					SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.A44V|SLC29A2_uc001ohv.2_Missense_Mutation_p.A44V|uc001ohw.1_RNA	p.A44V	NM_001532	NP_001523	Q14542	S29A2_HUMAN			3	360	-			44					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.131C>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	3.192	-0.165683	0.06461	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.80653	-0.04;-1.4;-1.4;-1.4	4.32	2.44	0.29823	.	0.412407	0.26571	N	0.023631	T	0.66973	0.2844	L	0.38953	1.18	0.20307	N	0.999919	B;B	0.25955	0.138;0.003	B;B	0.18561	0.022;0.002	T	0.52465	-0.8572	10	0.29301	T	0.29	-1.8443	7.5141	0.27590	0.0901:0.0:0.7487:0.1612	.	44;44	G5E943;Q14542	.;S29A2_HUMAN	V	44	ENSP00000311250:A44V;ENSP00000350024:A44V;ENSP00000439456:A44V;ENSP00000440329:A44V	ENSP00000311250:A44V	A	-	2	0	SLC29A2	65893560	0.000000	0.05858	0.047000	0.18901	0.004000	0.04260	0.377000	0.20552	0.449000	0.26747	-0.355000	0.07637	GCC		0.627	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		5	284	0	0	0	0	5	284				
RBM4	5936	broad.mit.edu	37	11	66407477	66407477	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:66407477G>C	ENST00000409406.1	+	1	1072	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RBM4_ENST00000503028.2_Missense_Mutation_p.E99Q|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.E99Q|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Missense_Mutation_p.E99Q|RBM4_ENST00000578778.1_Missense_Mutation_p.E99Q|RBM4_ENST00000408993.2_Missense_Mutation_p.E99Q|RBM4_ENST00000398692.4_Missense_Mutation_p.E99Q|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.E99Q|RBM4_ENST00000310092.7_Missense_Mutation_p.E99Q|RBM4_ENST00000532968.1_Missense_Mutation_p.E99Q|RBM4_ENST00000483858.1_Missense_Mutation_p.E99Q			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	99	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCCAAGTTTGAGGAGTATGG	0.512																																						uc009yrj.2		NA																	0				ovary(1)	1						c.(295-297)GAG>CAG		RNA binding motif protein 4							170.0	158.0	162.0					11																	66407477		2200	4295	6495	SO:0001583	missense	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66407477G>C	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.295G>C	11.37:g.66407477G>C	ENSP00000386894:p.Glu99Gln					RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.E99Q|RBM4_uc001oiw.1_Missense_Mutation_p.E99Q|RBM4_uc001oix.1_Missense_Mutation_p.E99Q|RBM4_uc010rpj.1_Missense_Mutation_p.E99Q|RBM4_uc001oiy.1_Missense_Mutation_p.E99Q|RBM4_uc001oiz.1_Missense_Mutation_p.E99Q	p.E99Q	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	783	+			99			RRM 2.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.295G>C	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101420	0.56183	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.95	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.21387	0.0515	.	.	.	0.51233	D	0.999914	B;B;B;B	0.31968	0.349;0.02;0.118;0.3	B;B;B;B	0.39531	0.302;0.031;0.297;0.2	T	0.02789	-1.1110	9	0.38643	T	0.18	-7.0262	16.141	0.81522	0.0:0.0:1.0:0.0	.	99;99;99;99	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	Q	99	ENSP00000425760:E99Q;ENSP00000309166:E99Q;ENSP00000413497:E99Q;ENSP00000386561:E99Q;ENSP00000435821:E99Q;ENSP00000381680:E99Q;ENSP00000422301:E99Q;ENSP00000423572:E99Q;ENSP00000432150:E99Q;ENSP00000432020:E99Q;ENSP00000386894:E99Q	ENSP00000425760:E99Q	E	+	1	0	RBM4;RBM14-RBM4	66164053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.467000	0.73547	2.485000	0.83878	0.650000	0.86243	GAG		0.512	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		57	164	0	0	0	0	57	164				
NUDT8	254552	broad.mit.edu	37	11	67395432	67395432	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:67395432C>T	ENST00000376693.2	-	4	705	c.696G>A	c.(694-696)ctG>ctA	p.L232L	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	232						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GACCTTTATTCAGTCCTGGAG	0.642																																						uc001omo.1		NA																	0					0						c.(694-696)CTG>CTA		nudix-type motif 8							31.0	32.0	32.0					11																	67395432		873	1985	2858	SO:0001819	synonymous_variant	254552					mitochondrion	hydrolase activity|metal ion binding	g.chr11:67395432C>T	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.696G>A	11.37:g.67395432C>T						NUDT8_uc001omn.2_3'UTR	p.L232L	NM_181843	NP_862826	Q8WV74	NUDT8_HUMAN			4	715	-			232					Q6ZW59	Silent	SNP	ENST00000376693.2	37	c.696G>A	CCDS58151.1																																																																																				0.642	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		6	28	0	0	0	0	6	28				
ORAOV1	220064	broad.mit.edu	37	11	69486560	69486560	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:69486560C>G	ENST00000535657.1	-	3	265	c.184G>C	c.(184-186)Gca>Cca	p.A62P	ORAOV1_ENST00000539414.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000542341.1_Missense_Mutation_p.A62P|ORAOV1_ENST00000279147.4_Missense_Mutation_p.A62P|ORAOV1_ENST00000536870.1_Intron			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	62										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATTTCCATGCAAAAGCAAAA	0.403																																						uc001opc.2		NA																	0					0						c.(184-186)GCA>CCA		oral cancer overexpressed 1							159.0	141.0	147.0					11																	69486560		2200	4294	6494	SO:0001583	missense	220064							g.chr11:69486560C>G		CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.184G>C	11.37:g.69486560C>G	ENSP00000446129:p.Ala62Pro					ORAOV1_uc010rqi.1_Missense_Mutation_p.A62P|ORAOV1_uc009ysm.2_Intron|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.A62P	p.A62P	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	342	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		62					B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	c.184G>C	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774579	0.31411	.	.	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000535657;ENST00000539414;ENST00000542341	T;T;T;T;T	0.49139	0.8;0.84;0.84;0.84;0.79	5.41	3.3	0.37823	.	0.249318	0.31747	N	0.007134	T	0.50257	0.1605	L	0.56769	1.78	0.19300	N	0.99997	D;P;P	0.69078	0.997;0.852;0.668	P;B;B	0.56088	0.791;0.431;0.244	T	0.38436	-0.9661	10	0.39692	T	0.17	-11.6415	4.1886	0.10411	0.0:0.5991:0.0:0.4009	.	62;62;62	B4DFA5;F5H6T8;Q8WV07	.;.;ORAV1_HUMAN	P	62	ENSP00000446428:A62P;ENSP00000279147:A62P;ENSP00000446129:A62P;ENSP00000444112:A62P;ENSP00000437367:A62P	ENSP00000279147:A62P	A	-	1	0	ORAOV1	69195741	0.994000	0.37717	0.101000	0.21167	0.312000	0.27988	1.577000	0.36515	1.273000	0.44346	0.448000	0.29417	GCA		0.403	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		15	413	0	0	0	0	15	413				
ANO1	55107	broad.mit.edu	37	11	70031712	70031712	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:70031712G>C	ENST00000355303.5	+	25	2910	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ANO1_ENST00000531349.1_Missense_Mutation_p.E578Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E723Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E869Q|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.E723Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	869					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AGACTACCGAGAGCCGCCGTG	0.617																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2605-2607)GAG>CAG		anoctamin 1, calcium activated chloride channel							80.0	90.0	86.0					11																	70031712		1958	4136	6094	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031712G>C	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2605G>C	11.37:g.70031712G>C	ENSP00000347454:p.Glu869Gln					ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E578Q|ANO1_uc010rql.1_Missense_Mutation_p.E43Q	p.E869Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			25	2910	+			869			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2605G>C	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309317	0.60414	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.71579	-0.14;-0.24;-0.58;-0.58;-0.27	5.27	5.27	0.74061	.	0.052445	0.64402	D	0.000001	T	0.82254	0.4997	M	0.63428	1.95	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70016	0.967;0.959	T	0.81444	-0.0930	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	578;869	E9PNA7;Q5XXA6	.;ANO1_HUMAN	Q	869;869;723;627;723;578;196	ENSP00000347454:E869Q;ENSP00000444689:E869Q;ENSP00000381551:E723Q;ENSP00000435797:E723Q;ENSP00000432843:E578Q	.	E	+	1	0	ANO1	69709360	1.000000	0.71417	0.982000	0.44146	0.167000	0.22549	8.989000	0.93506	2.460000	0.83146	0.655000	0.94253	GAG		0.617	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		15	220	0	0	0	0	15	220				
MYO7A	4647	broad.mit.edu	37	11	76872097	76872097	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:76872097A>T	ENST00000409709.3	+	12	1551	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K416*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K427*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K427*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	427	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGGATGTGAAGAACTCTCG	0.542																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(1279-1281)AAG>TAG		myosin VIIA isoform 1							93.0	105.0	101.0					11																	76872097		2053	4191	6244	SO:0001587	stop_gained	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76872097A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1279A>T	11.37:g.76872097A>T	ENSP00000386331:p.Lys427*					MYO7A_uc010rsl.1_Nonsense_Mutation_p.K427*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.K416*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.K427*	p.K427*	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			12	1551	+			427			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	ENST00000409709.3	37	c.1279A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	41	8.545096	0.98857	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	.	.	.	5.25	4.09	0.47781	.	0.058013	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0699	0.53609	0.8558:0.1441:0.0:0.0	.	.	.	.	X	427;427;427;416;426;426;349;426	.	ENSP00000345075:K349X	K	+	1	0	MYO7A	76549745	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	4.954000	0.63631	0.793000	0.33875	0.477000	0.44152	AAG		0.542	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	20	0	0	0	0	8	20				
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					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)			TGTTCCGGTTCCCGGGCTTCC	0.622																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(1150-1152)TTC>TTT		ubiquitin specific protease 35							75.0	80.0	78.0					11																	77911809		1937	4122	6059	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911809C>T	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.1152C>T	11.37:g.77911809C>T						USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F	p.F384F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		6	1398	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		384						Silent	SNP	ENST00000529308.1	37	c.1152C>T	CCDS41693.1																																																																																				0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	26	0	0	0	0	5	26				
VSIG2	23584	broad.mit.edu	37	11	124618357	124618357	+	Silent	SNP	C	C	T	rs376847998		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr11:124618357C>T	ENST00000326621.5	-	6	880	c.780G>A	c.(778-780)gcG>gcA	p.A260A	VSIG2_ENST00000403470.1_Silent_p.A260A|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	260						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCAGGCAGAACGCAGCAACTG	0.607																																						uc001qas.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(778-780)GCG>GCA		V-set and immunoglobulin domain containing 2		C		1,4401	2.1+/-5.4	0,1,2200	108.0	95.0	100.0		780	-7.7	0.0	11		100	0,8598		0,0,4299	no	coding-synonymous	VSIG2	NM_014312.3		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		260/328	124618357	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124618357C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.780G>A	11.37:g.124618357C>T						VSIG2_uc001qat.2_Silent_p.A260A	p.A260A	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	856	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	260			Helical; (Potential).		O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.780G>A	CCDS8452.1																																																																																				0.607	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		33	48	0	0	0	0	33	48				
KDM5A	5927	broad.mit.edu	37	12	463358	463358	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:463358C>T	ENST00000399788.2	-	8	1275	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E305K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	305					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATTTATCTTCATTGTTTCCC	0.333			T	NUP98	AML																																	uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(913-915)GAA>AAA		retinoblastoma binding protein 2 isoform 1							150.0	135.0	140.0					12																	463358		1879	4107	5986	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:463358C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.913G>A	12.37:g.463358C>T	ENSP00000382688:p.Glu305Lys					KDM5A_uc001qie.1_Missense_Mutation_p.E305K|KDM5A_uc010sdn.1_Missense_Mutation_p.E264K|KDM5A_uc010sdo.1_Intron	p.E305K	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			8	1276	-			305			PHD-type 1.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.913G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675700	0.96764	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.84944	-1.92;-1.92	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.76170	2.325	0.80722	D	1	D;D;D	0.58970	0.978;0.969;0.984	P;P;P	0.62813	0.907;0.855;0.888	D	0.92570	0.6065	10	0.87932	D	0	-17.7531	18.8719	0.92319	0.0:1.0:0.0:0.0	.	305;305;305	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	K	264;305;305	ENSP00000382688:E305K;ENSP00000372265:E305K	ENSP00000372265:E305K	E	-	1	0	KDM5A	333619	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.729000	0.84864	2.530000	0.85305	0.467000	0.42956	GAA		0.333	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		8	39	0	0	0	0	8	39				
CD163L1	283316	broad.mit.edu	37	12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A	rs372730324		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0031					uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3940-3942)CGG>TGG		scavenger receptor cysteine-rich type 1							146.0	133.0	137.0					12																	7522052		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522052G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3940C>T	12.37:g.7522052G>A	ENSP00000315945:p.Arg1314Trp					CD163L1_uc010sge.1_Missense_Mutation_p.R1324W	p.R1314W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			15	3966	-			1314			SRCR 12.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3940C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026180	0.35701	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37752	1.18;1.18;1.18	2.67	-2.55	0.06288	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.561810	0.04732	U	0.421283	T	0.49218	0.1544	M	0.76727	2.345	0.09310	N	1	P;P	0.45428	0.858;0.754	P;B	0.49301	0.606;0.109	T	0.56956	-0.7893	10	0.72032	D	0.01	.	11.2601	0.49078	0.0:0.0:0.2165:0.7835	.	1324;1314	E7EVK4;Q9NR16	.;C163B_HUMAN	W	1314;1324;1314	ENSP00000315945:R1314W;ENSP00000393474:R1324W;ENSP00000379871:R1314W	ENSP00000315945:R1314W	R	-	1	2	CD163L1	7413319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.786000	0.00366	-0.608000	0.05731	0.563000	0.77884	CGG		0.572	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		4	93	0	0	0	0	4	93				
BICD1	636	broad.mit.edu	37	12	32490488	32490488	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:32490488G>C	ENST00000281474.5	+	7	2411	c.2308G>C	c.(2308-2310)Gag>Cag	p.E770Q	BICD1_ENST00000548411.1_Missense_Mutation_p.E770Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	770	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCAGCTGCAGAGGATGAGAA	0.463																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2308-2310)GAG>CAG		bicaudal D homolog 1 isoform 1							114.0	105.0	108.0					12																	32490488		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32490488G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2308G>C	12.37:g.32490488G>C	ENSP00000281474:p.Glu770Gln					BICD1_uc001rkv.2_Missense_Mutation_p.E770Q|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Missense_Mutation_p.E52Q	p.E770Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		7	2389	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		770			Potential.|Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2308G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234824	0.79800	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.65178	-0.14;-0.14	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.86520	0.1815	10	0.59425	D	0.04	.	17.753	0.88440	0.0:0.0:1.0:0.0	.	770;770	F8W113;Q96G01	.;BICD1_HUMAN	Q	770	ENSP00000446793:E770Q;ENSP00000281474:E770Q	ENSP00000281474:E770Q	E	+	1	0	BICD1	32381755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.320000	0.96346	2.429000	0.82318	0.591000	0.81541	GAG		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		10	39	0	0	0	0	10	39				
RACGAP1	29127	broad.mit.edu	37	12	50388028	50388028	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:50388028G>C	ENST00000427314.2	-	14	1448	c.1225C>G	c.(1225-1227)Ctc>Gtc	p.L409V	RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000551016.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000454520.2_Missense_Mutation_p.L409V|RACGAP1_ENST00000434422.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000547905.1_Missense_Mutation_p.L409V|RACGAP1_ENST00000312377.5_Missense_Mutation_p.L409V	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTGCTGAGGAGGGGTACA	0.438																																						uc001rvt.2		NA																	0				kidney(1)	1						c.(1225-1227)CTC>GTC		Rac GTPase activating protein 1							130.0	131.0	131.0					12																	50388028		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50388028G>C		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1225C>G	12.37:g.50388028G>C	ENSP00000404190:p.Leu409Val					RACGAP1_uc009zlm.1_Missense_Mutation_p.L409V|RACGAP1_uc001rvs.2_Missense_Mutation_p.L409V|RACGAP1_uc001rvu.2_Missense_Mutation_p.L409V	p.L409V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			14	1535	-			409			Rho-GAP.			Missense_Mutation	SNP	ENST00000427314.2	37	c.1225C>G	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537012	0.65085	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.35	5.35	0.76521	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.72894	2.215	0.80722	D	1	B	0.24132	0.098	B	0.29942	0.109	T	0.16217	-1.0410	10	0.48119	T	0.1	-11.0493	19.0648	0.93106	0.0:0.0:1.0:0.0	.	409	Q9H0H5	RGAP1_HUMAN	V	409;409;409;409;409;409;145	ENSP00000404190:L409V;ENSP00000309871:L409V;ENSP00000413241:L409V;ENSP00000404808:L409V;ENSP00000449374:L409V;ENSP00000449370:L409V;ENSP00000449565:L145V	ENSP00000309871:L409V	L	-	1	0	RACGAP1	48674295	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	9.773000	0.98989	2.489000	0.83994	0.555000	0.69702	CTC		0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		26	91	0	0	0	0	26	91				
TMPRSS12	283471	broad.mit.edu	37	12	51279041	51279041	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:51279041A>T	ENST00000398458.3	+	4	697	c.665A>T	c.(664-666)aAt>aTt	p.N222I	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.N222I	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	222	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AACGCTACAAATATTTTACAA	0.328																																						uc001rwx.3		NA																	0					0						c.(664-666)AAT>ATT		transmembrane protease, serine 12 precursor							105.0	100.0	102.0					12																	51279041		1817	4087	5904	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279041A>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.665A>T	12.37:g.51279041A>T	ENSP00000381476:p.Asn222Ile					TMPRSS12_uc001rwy.2_Missense_Mutation_p.N222I	p.N222I	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			4	712	+			222			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.665A>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	A	9.587	1.125243	0.20959	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.88896	-2.44;0.23	5.2	-4.01	0.04045	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.041730	0.02022	N	0.047838	D	0.84110	0.5400	L	0.58302	1.8	0.09310	N	1	B;B	0.23540	0.087;0.0	B;B	0.23852	0.049;0.003	T	0.64521	-0.6388	10	0.39692	T	0.17	0.3515	2.2436	0.04025	0.2752:0.4253:0.1686:0.1309	.	222;222	F8WBX2;Q86WS5	.;TMPSC_HUMAN	I	222	ENSP00000447259:N222I;ENSP00000381476:N222I	ENSP00000381476:N222I	N	+	2	0	TMPRSS12	49565308	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.098000	0.03346	-0.596000	0.05821	0.455000	0.32223	AAT		0.328	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		20	85	0	0	0	0	20	85				
RARG	5916	broad.mit.edu	37	12	53605612	53605612	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:53605612G>C	ENST00000425354.2	-	10	1700	c.1213C>G	c.(1213-1215)Cca>Gca	p.P405A	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.P383A|RARG_ENST00000327550.3_Missense_Mutation_p.P333A|RARG_ENST00000394426.1_Missense_Mutation_p.P405A|RARG_ENST00000338561.5_Missense_Mutation_p.P394A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	405	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATCGGGCCTGGAATCTCCATC	0.547																																						uc001sce.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1213-1215)CCA>GCA		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						72.0	69.0	70.0					12																	53605612		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53605612G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1213C>G	12.37:g.53605612G>C	ENSP00000388510:p.Pro405Ala					RARG_uc001scd.2_Missense_Mutation_p.P394A|RARG_uc010sob.1_Missense_Mutation_p.P383A|RARG_uc001scf.2_Missense_Mutation_p.P405A|RARG_uc001scg.2_Missense_Mutation_p.P333A|RARG_uc010soc.1_Missense_Mutation_p.P284A	p.P405A	NM_000966	NP_000957	P13631	RARG_HUMAN			10	1698	-			405			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.1213C>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148702	0.78001	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.88	4.88	0.63580	Nuclear hormone receptor, ligand-binding (2);	0.057345	0.64402	D	0.000001	T	0.63558	0.2521	M	0.82716	2.605	0.80722	D	1	D;D;P	0.67145	0.98;0.996;0.953	D;D;P	0.70935	0.91;0.971;0.779	T	0.69895	-0.5021	10	0.72032	D	0.01	.	17.1774	0.86844	0.0:0.0:1.0:0.0	.	383;405;394	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	A	405;405;333;394;383	ENSP00000388510:P405A;ENSP00000377947:P405A;ENSP00000332695:P333A;ENSP00000343698:P394A;ENSP00000444335:P383A	ENSP00000332695:P333A	P	-	1	0	RARG	51891879	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.664000	0.98607	2.416000	0.81992	0.563000	0.77884	CCA		0.547	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		19	61	0	0	0	0	19	61				
SHMT2	6472	broad.mit.edu	37	12	57627425	57627425	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:57627425G>A	ENST00000328923.3	+	9	1555	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	SHMT2_ENST00000557487.1_Missense_Mutation_p.R358Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R347Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R272Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R347Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	368					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTGCTAGAGCGAGGCTACTCA	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)	uc001snf.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1102-1104)CGA>CAA		serine hydroxymethyltransferase 2	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						75.0	66.0	69.0					12																	57627425		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57627425G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1103G>A	12.37:g.57627425G>A	ENSP00000333667:p.Arg368Gln					SHMT2_uc001sng.1_Missense_Mutation_p.R264Q|SHMT2_uc001snh.1_Missense_Mutation_p.R207Q|SHMT2_uc009zpk.1_Missense_Mutation_p.R358Q|SHMT2_uc001sni.1_Missense_Mutation_p.R347Q|SHMT2_uc010srg.1_Missense_Mutation_p.R377Q|SHMT2_uc001snj.1_Missense_Mutation_p.R272Q|SHMT2_uc010srh.1_Missense_Mutation_p.R347Q|SHMT2_uc001snk.1_Missense_Mutation_p.R272Q|SHMT2_uc010sri.1_Missense_Mutation_p.R347Q|SHMT2_uc001snl.2_Missense_Mutation_p.R272Q|SHMT2_uc010srj.1_Missense_Mutation_p.R23Q	p.R368Q	NM_005412	NP_005403	P34897	GLYM_HUMAN			9	1113	+			368					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.1103G>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415569	0.42817	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.32	3.43	0.39272	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.068713	0.56097	D	0.000026	T	0.40498	0.1119	L	0.58669	1.825	0.41445	D	0.987946	P;P;P;P;P	0.50943	0.928;0.836;0.94;0.885;0.895	P;B;B;P;B	0.46796	0.527;0.298;0.4;0.47;0.271	T	0.20806	-1.0264	10	0.28530	T	0.3	1.4888	7.9247	0.29867	0.1918:0.0:0.8082:0.0	.	377;358;272;299;368	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	368;358;207;347;347;347;272	ENSP00000333667:R368Q;ENSP00000452315:R358Q;ENSP00000450930:R207Q;ENSP00000406881:R347Q;ENSP00000452419:R347Q;ENSP00000413770:R347Q;ENSP00000377413:R272Q	ENSP00000333667:R368Q	R	+	2	0	SHMT2	55913692	0.107000	0.21998	0.993000	0.49108	0.917000	0.54804	1.583000	0.36579	1.180000	0.42898	0.561000	0.74099	CGA		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		7	34	0	0	0	0	7	34				
PTPRB	5787	broad.mit.edu	37	12	70964817	70964817	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:70964817T>C	ENST00000261266.5	-	11	2734	c.2705A>G	c.(2704-2706)gAg>gGg	p.E902G	PTPRB_ENST00000551525.1_Missense_Mutation_p.E1119G|PTPRB_ENST00000334414.6_Missense_Mutation_p.E1120G|PTPRB_ENST00000451516.2_Missense_Mutation_p.E812G|PTPRB_ENST00000550857.1_Missense_Mutation_p.E812G|PTPRB_ENST00000538708.1_Missense_Mutation_p.E902G|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1032G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	902	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGCCCTCAATGAAGGC	0.443																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(2704-2706)GAG>GGG		protein tyrosine phosphatase, receptor type, B							74.0	69.0	71.0					12																	70964817		1949	4145	6094	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70964817T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2705A>G	12.37:g.70964817T>C	ENSP00000261266:p.Glu902Gly					PTPRB_uc010sto.1_Missense_Mutation_p.E902G|PTPRB_uc010stp.1_Missense_Mutation_p.E812G|PTPRB_uc001swc.3_Missense_Mutation_p.E1120G|PTPRB_uc001swa.3_Missense_Mutation_p.E1032G|PTPRB_uc001swd.3_Missense_Mutation_p.E1119G|PTPRB_uc009zrr.1_Missense_Mutation_p.E999G	p.E902G	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		11	2735	-	Renal(347;0.236)		902			Fibronectin type-III 10.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2705A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679208	0.47886	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04862	4.03;4.03;3.95;4.09;4.03;4.09;3.54;3.57	5.71	5.71	0.89125	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	M	0.78049	2.395	0.80722	D	1	P;P;B;P;P;P;P	0.48503	0.907;0.823;0.278;0.48;0.907;0.849;0.911	P;P;P;B;P;P;P	0.57152	0.704;0.814;0.512;0.426;0.814;0.509;0.731	T	0.01371	-1.1372	10	0.27082	T	0.32	.	16.0042	0.80349	0.0:0.0:0.0:1.0	.	812;902;999;1119;1120;902;1032	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1120;812;1032;902;812;902;1119;999	ENSP00000334928:E1120G;ENSP00000393028:E812G;ENSP00000448058:E1032G;ENSP00000438927:E902G;ENSP00000447302:E812G;ENSP00000261266:E902G;ENSP00000448349:E1119G;ENSP00000446982:E999G	ENSP00000261266:E902G	E	-	2	0	PTPRB	69251084	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	7.665000	0.83852	2.171000	0.68590	0.528000	0.53228	GAG		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			3	44	0	0	0	0	3	44				
BBS10	79738	broad.mit.edu	37	12	76740543	76740543	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:76740543C>T	ENST00000393262.3	-	2	1305	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	408					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TCATGTTGTTCAATGAGACCA	0.368									Bardet-Biedl syndrome																													uc001syd.1		NA																	0				ovary(1)|skin(1)	2						c.(1222-1224)GAA>AAA		Bardet-Biedl syndrome 10							91.0	85.0	87.0					12																	76740543		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740543C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1222G>A	12.37:g.76740543C>T	ENSP00000376946:p.Glu408Lys						p.E408K	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	1306	-			408					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1222G>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	7.865	0.726994	0.15439	.	.	ENSG00000179941	ENST00000393262	T	0.78003	-1.14	5.1	1.18	0.20946	.	0.228496	0.35466	N	0.003200	T	0.70378	0.3217	M	0.64997	1.995	0.42720	D	0.993675	B	0.06786	0.001	B	0.12156	0.007	T	0.61888	-0.6970	10	0.42905	T	0.14	-7.4194	7.9646	0.30091	0.0:0.6176:0.2446:0.1378	.	408	Q8TAM1	BBS10_HUMAN	K	408	ENSP00000376946:E408K	ENSP00000376946:E408K	E	-	1	0	BBS10	75264674	1.000000	0.71417	0.921000	0.36526	0.103000	0.19146	1.827000	0.39102	0.114000	0.18032	-0.909000	0.02823	GAA		0.368	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		17	43	0	0	0	0	17	43				
ANO4	121601	broad.mit.edu	37	12	101510524	101510524	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:101510524G>A	ENST00000392977.3	+	25	2728	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	ANO4_ENST00000299222.9_Missense_Mutation_p.E360K|ANO4_ENST00000392979.3_Missense_Mutation_p.E805K|ANO4_ENST00000550015.1_Missense_Mutation_p.E360K			Q32M45	ANO4_HUMAN	anoctamin 4	840					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACCGATCTGAGCCTGAATC	0.512										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2518-2520)GAG>AAG		anoctamin 4							247.0	221.0	230.0					12																	101510524		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101510524G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2518G>A	12.37:g.101510524G>A	ENSP00000376703:p.Glu840Lys	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.E805K|ANO4_uc001thx.2_Missense_Mutation_p.E840K|ANO4_uc001thy.2_Missense_Mutation_p.E360K	p.E840K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			25	3090	+			840			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2518G>A		.	.	.	.	.	.	.	.	.	.	G	6.190	0.403251	0.11754	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.68025	-0.3;-0.15;-0.3;-0.15	5.6	5.6	0.85130	.	0.067826	0.64402	D	0.000016	T	0.40619	0.1124	N	0.03608	-0.345	0.44771	D	0.99777	B;B;B	0.20164	0.013;0.042;0.034	B;B;B	0.26202	0.025;0.067;0.025	T	0.40997	-0.9533	10	0.05833	T	0.94	.	12.8993	0.58117	0.0742:0.0:0.9258:0.0	.	360;840;805	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	K	805;360;840;360	ENSP00000376705:E805K;ENSP00000299222:E360K;ENSP00000376703:E840K;ENSP00000450192:E360K	ENSP00000299222:E360K	E	+	1	0	ANO4	100034655	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	5.014000	0.64029	2.620000	0.88729	0.563000	0.77884	GAG		0.512	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		23	93	0	0	0	0	23	93				
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	T	rs182173906	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:109526080G>T	ENST00000429722.2	-	4	1080	c.717C>A	c.(715-717)ccC>ccA	p.P239P	ALKBH2_ENST00000343075.3_Silent_p.P239P|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	239	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.P239P(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483								Direct reversal of damage																														uc001tnx.2		NA																	1	Substitution - coding silent(1)		kidney(1)		0						c.(715-717)CCC>CCA	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						115.0	117.0	116.0					12																	109526080		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526080G>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.717C>A	12.37:g.109526080G>T						ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	p.P239P	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			4	1110	-			239			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Silent	SNP	ENST00000429722.2	37	c.717C>A	CCDS31897.1																																																																																				0.483	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		4	138	1	0	0.00909568	0.00934107	4	138				
CLIP1	6249	broad.mit.edu	37	12	122825752	122825752	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:122825752T>G	ENST00000540338.1	-	10	2040	c.1999A>C	c.(1999-2001)Aga>Cga	p.R667R	CLIP1_ENST00000545889.1_Silent_p.R357R|CLIP1_ENST00000361654.4_Silent_p.R621R|CLIP1_ENST00000537178.1_Silent_p.R621R|CLIP1_ENST00000358808.2_Silent_p.R656R|CLIP1_ENST00000302528.7_Silent_p.R656R			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	667					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAATCTAGTCTCATTTTCTCT	0.433																																						uc001ucg.1		NA																	0				ovary(2)|breast(1)	3						c.(1999-2001)AGA>CGA		restin isoform a							140.0	142.0	141.0					12																	122825752		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825752T>G		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1999A>C	12.37:g.122825752T>G						CLIP1_uc001uch.1_Silent_p.R656R|CLIP1_uc001uci.1_Silent_p.R621R|CLIP1_uc001ucj.1_Silent_p.R357R|CLIP1_uc009zxo.1_Silent_p.R223R	p.R667R	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2105	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		667			Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1999A>C	CCDS58285.1																																																																																				0.433	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		35	119	0	0	0	0	35	119				
GOLGA3	2802	broad.mit.edu	37	12	133363026	133363026	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:133363026G>A	ENST00000450791.2	-	14	3205	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R1008C|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R1008C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1008C			Q08378	GOGA3_HUMAN	golgin A3	1008					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGGCGGCGGCTGAGGATG	0.657																																						uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3022-3024)CGC>TGC		Golgi autoantigen, golgin subfamily a, 3							25.0	25.0	25.0					12																	133363026		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133363026G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3022C>T	12.37:g.133363026G>A	ENSP00000410378:p.Arg1008Cys					GOLGA3_uc001ula.1_Missense_Mutation_p.R1008C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1008C	p.R1008C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	15	3581	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1008			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3022C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481971	0.84747	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.38077	1.66;1.66;1.67;1.16;1.16	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.65269	-0.6209	10	0.72032	D	0.01	.	19.8381	0.96666	0.0:0.0:1.0:0.0	.	1008;1008;1008	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	C	1008	ENSP00000204726:R1008C;ENSP00000410378:R1008C;ENSP00000409303:R1008C;ENSP00000442143:R1008C;ENSP00000442603:R1008C	ENSP00000204726:R1008C	R	-	1	0	GOLGA3	131873099	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.143000	0.71756	2.690000	0.91761	0.655000	0.94253	CGC		0.657	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		9	13	0	0	0	0	9	13				
PARP4	143	broad.mit.edu	37	13	25008562	25008562	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:25008562A>G	ENST00000381989.3	-	31	4822	c.4717T>C	c.(4717-4719)Tgg>Cgg	p.W1573R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1573	Interaction with the major vault protein.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTCTGTCCAAGGCACAGCA	0.423																																						uc001upl.2		NA																	0				ovary(3)|skin(1)	4						c.(4717-4719)TGG>CGG		poly (ADP-ribose) polymerase family, member 4							118.0	107.0	111.0					13																	25008562		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008562A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4717T>C	13.37:g.25008562A>G	ENSP00000371419:p.Trp1573Arg						p.W1573R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4823	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1573			Interaction with the major vault protein.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.4717T>C	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	a	11.19	1.566325	0.27915	.	.	ENSG00000102699	ENST00000381989	D	0.91068	-2.78	3.57	2.38	0.29361	.	0.509430	0.15803	N	0.243850	D	0.85796	0.5780	L	0.55990	1.75	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.77531	-0.2553	10	0.87932	D	0	1.4948	5.4904	0.16773	0.8673:0.0:0.1327:0.0	.	1573	Q9UKK3	PARP4_HUMAN	R	1573	ENSP00000371419:W1573R	ENSP00000371419:W1573R	W	-	1	0	PARP4	23906562	0.089000	0.21612	0.001000	0.08648	0.019000	0.09904	1.223000	0.32527	0.553000	0.29044	0.379000	0.24179	TGG		0.423	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		14	60	0	0	0	0	14	60				
B3GALTL	145173	broad.mit.edu	37	13	31821997	31821997	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:31821997C>G	ENST00000343307.4	+	6	502	c.353C>G	c.(352-354)tCt>tGt	p.S118C		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	118					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTCAGTTTTTCTGTAACATAT	0.338																																						uc010aaz.2		NA																	0				ovary(2)	2						c.(352-354)TCT>TGT		beta 1,3-galactosyltransferase-like							40.0	36.0	37.0					13																	31821997		2202	4297	6499	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31821997C>G	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.353C>G	13.37:g.31821997C>G	ENSP00000343002:p.Ser118Cys						p.S118C	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	6	463	+		Lung SC(185;0.0257)	118			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.353C>G	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127142	0.56721	.	.	ENSG00000187676	ENST00000343307	T	0.74209	-0.82	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.72894	2.215	0.58432	D	0.999992	D	0.76494	0.999	D	0.68192	0.956	D	0.84723	0.0741	10	0.49607	T	0.09	-26.4001	19.839	0.96675	0.0:1.0:0.0:0.0	.	118	Q6Y288	B3GLT_HUMAN	C	118	ENSP00000343002:S118C	ENSP00000343002:S118C	S	+	2	0	B3GALTL	30719997	1.000000	0.71417	0.999000	0.59377	0.443000	0.32047	4.873000	0.63057	2.865000	0.98341	0.655000	0.94253	TCT		0.338	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		6	14	0	0	0	0	6	14				
ZIC2	7546	broad.mit.edu	37	13	100635121	100635121	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr13:100635121A>G	ENST00000376335.3	+	1	1096	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	268					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAACTGAGCAATCCCAAGAAG	0.587																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	0					0						c.(802-804)AAT>AGT		zinc finger protein of the cerebellum 2							117.0	114.0	115.0					13																	100635121		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635121A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.803A>G	13.37:g.100635121A>G	ENSP00000365514:p.Asn268Ser						p.N268S	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	803	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		268			C2H2-type 1; atypical.		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.803A>G	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759215	0.31137	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.34859	1.34	4.69	3.46	0.39613	Zinc finger, C2H2-like (1);	0.049775	0.85682	D	0.000000	T	0.12860	0.0312	N	0.02736	-0.51	0.49798	D	0.999826	B	0.27791	0.189	B	0.24006	0.05	T	0.08513	-1.0718	10	0.14252	T	0.57	.	7.0785	0.25217	0.7721:0.1497:0.0782:0.0	.	268	O95409	ZIC2_HUMAN	S	268;17	ENSP00000365514:N268S	ENSP00000365514:N268S	N	+	2	0	ZIC2	99433122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.447000	0.52936	0.894000	0.36317	0.459000	0.35465	AAT		0.587	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		24	92	0	0	0	0	24	92				
NEDD8	4738	broad.mit.edu	37	14	24686415	24686415	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:24686415G>C	ENST00000250495.5	-	4	350	c.164C>G	c.(163-165)aCa>aGa	p.T55R	NEDD8-MDP1_ENST00000604306.1_Intron|NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000288087.7_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	55					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		ATCAGCTGCTGTCTTCTCATC	0.418																																						uc001wnn.2		NA																	0					0						c.(163-165)ACA>AGA		neural precursor cell expressed, developmentally							69.0	57.0	61.0					14																	24686415		2203	4300	6503	SO:0001583	missense	4738				anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin protein ligase binding	g.chr14:24686415G>C	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.164C>G	14.37:g.24686415G>C	ENSP00000250495:p.Thr55Arg					CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA	p.T55R	NM_006156	NP_006147	Q15843	NEDD8_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	4	267	-			55					Q3SXN8|Q6LES6	Missense_Mutation	SNP	ENST00000250495.5	37	c.164C>G	CCDS9621.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161477	0.57368	.	.	ENSG00000129559	ENST00000250495	T	0.78126	-1.15	4.96	4.96	0.65561	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	B	0.22800	0.075	B	0.21917	0.037	T	0.73151	-0.4073	9	0.87932	D	0	-9.8895	17.132	0.86729	0.0:0.0:1.0:0.0	.	55	Q15843	NEDD8_HUMAN	R	55	ENSP00000250495:T55R	ENSP00000250495:T55R	T	-	2	0	NEDD8	23756255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.162000	0.89657	2.561000	0.86390	0.585000	0.79938	ACA		0.418	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156		14	30	0	0	0	0	14	30				
MDGA2	161357	broad.mit.edu	37	14	47504314	47504314	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:47504314A>C	ENST00000399232.2	-	8	1876	c.1512T>G	c.(1510-1512)aaT>aaG	p.N504K	MDGA2_ENST00000439988.3_Missense_Mutation_p.N573K|MDGA2_ENST00000426342.1_Missense_Mutation_p.N275K|MDGA2_ENST00000357362.3_Missense_Mutation_p.N275K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	504	Ig-like 5.			N -> S (in Ref. 2; AK309211). {ECO:0000305}.	pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCTAGATACATTCACAATCC	0.428																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1510-1512)AAT>AAG		MAM domain containing 1 isoform 1							226.0	214.0	218.0					14																	47504314		1996	4163	6159	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504314A>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1512T>G	14.37:g.47504314A>C	ENSP00000382178:p.Asn504Lys					MDGA2_uc001wwi.3_Missense_Mutation_p.N275K|MDGA2_uc010ani.2_Missense_Mutation_p.N64K	p.N504K	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1708	-			504			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1512T>G		.	.	.	.	.	.	.	.	.	.	A	17.98	3.520908	0.64747	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.52	-0.568	0.11760	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	U	0.000042	T	0.31199	0.0789	L	0.33189	0.99	0.80722	D	1	P;P	0.38473	0.58;0.633	P;P	0.49421	0.476;0.61	T	0.07947	-1.0746	10	0.66056	D	0.02	.	10.523	0.44931	0.5846:0.0:0.4154:0.0	.	275;504	F6W3S7;Q7Z553	.;MDGA2_HUMAN	K	504;275;573;275	ENSP00000400011:N504K;ENSP00000405456:N275K;ENSP00000382178:N573K;ENSP00000349925:N275K	ENSP00000349925:N275K	N	-	3	2	MDGA2	46574064	0.990000	0.36364	0.992000	0.48379	0.978000	0.69477	0.373000	0.20484	-0.328000	0.08539	-0.415000	0.06103	AAT		0.428	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		23	122	0	0	0	0	23	122				
SOS2	6655	broad.mit.edu	37	14	50597372	50597372	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597372C>T	ENST00000216373.5	-	20	3458	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1029K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1062					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)					TTACATGGTTCTCTTTCTAAT	0.438																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3184-3186)GAA>AAA		son of sevenless homolog 2							173.0	149.0	157.0					14																	50597372		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.chr14:50597372C>T	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.3184G>A	14.37:g.50597372C>T	ENSP00000216373:p.Glu1062Lys					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1029K	p.E1062K	NM_006939	NP_008870	Q07890	SOS2_HUMAN			20	3282	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1062					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3184G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550512	0.96501	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79749	-1.3;-1.17	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.81856	0.4911	M	0.68952	2.095	0.58432	D	0.999999	B;B	0.24963	0.058;0.115	B;B	0.31547	0.099;0.132	T	0.77186	-0.2680	10	0.33141	T	0.24	.	19.6501	0.95796	0.0:1.0:0.0:0.0	.	1029;1062	B7ZKT6;Q07890	.;SOS2_HUMAN	K	1062;1029	ENSP00000216373:E1062K;ENSP00000445328:E1029K	ENSP00000216373:E1062K	E	-	1	0	SOS2	49667122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.151000	0.77411	2.657000	0.90304	0.484000	0.47621	GAA		0.438	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			15	77	0	0	0	0	15	77				
SOS2	6655	broad.mit.edu	37	14	50597378	50597378	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:50597378C>T	ENST00000216373.5	-	20	3452	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	SOS2_ENST00000543680.1_Missense_Mutation_p.E1027K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1060					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)					GGTTCTCTTTCTAATGGTGTT	0.438																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3178-3180)GAA>AAA		son of sevenless homolog 2							170.0	146.0	154.0					14																	50597378		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.chr14:50597378C>T	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.3178G>A	14.37:g.50597378C>T	ENSP00000216373:p.Glu1060Lys					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1027K	p.E1060K	NM_006939	NP_008870	Q07890	SOS2_HUMAN			20	3276	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1060					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3178G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413233	0.62511	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78707	-1.2;-1.06	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.60455	1.87	0.58432	D	0.999998	P;P	0.35124	0.485;0.485	B;B	0.36666	0.23;0.23	T	0.73193	-0.4060	10	0.24483	T	0.36	.	19.6501	0.95796	0.0:1.0:0.0:0.0	.	1027;1060	B7ZKT6;Q07890	.;SOS2_HUMAN	K	1060;1027	ENSP00000216373:E1060K;ENSP00000445328:E1027K	ENSP00000216373:E1060K	E	-	1	0	SOS2	49667128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.414000	0.66405	2.657000	0.90304	0.484000	0.47621	GAA		0.438	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			16	74	0	0	0	0	16	74				
PPP1R36	145376	broad.mit.edu	37	14	65041274	65041274	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:65041274C>T	ENST00000298705.1	+	8	731	c.635C>T	c.(634-636)gCc>gTc	p.A212V	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	212					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CTGGGCTTGGCCGTGCCGGAT	0.438																																						uc001xhl.1		NA																	0				skin(1)	1						c.(634-636)GCC>GTC		hypothetical protein LOC145376							168.0	136.0	147.0					14																	65041274		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65041274C>T		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.635C>T	14.37:g.65041274C>T	ENSP00000298705:p.Ala212Val						p.A212V	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	8	731	+			212					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.635C>T	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099432	0.37048	.	.	ENSG00000165807	ENST00000298705	T	0.31769	1.48	6.04	2.2	0.27929	.	0.260649	0.33515	N	0.004829	T	0.20981	0.0505	L	0.36672	1.1	0.22066	N	0.999387	P	0.41265	0.744	B	0.35114	0.196	T	0.08186	-1.0734	10	0.72032	D	0.01	-7.7442	9.6155	0.39690	0.076:0.4294:0.4946:0.0	.	212	Q96LQ0	PPR36_HUMAN	V	212	ENSP00000298705:A212V	ENSP00000298705:A212V	A	+	2	0	C14orf50	64111027	0.983000	0.35010	0.401000	0.26359	0.352000	0.29268	1.221000	0.32503	0.146000	0.19002	-0.311000	0.09066	GCC		0.438	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		4	105	0	0	0	0	4	105				
NRXN3	9369	broad.mit.edu	37	14	79175742	79175742	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:79175742G>T	ENST00000554719.1	+	4	776	c.285G>T	c.(283-285)atG>atT	p.M95I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M95I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTAAACGTATGGGCTCCATCT	0.517																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(283-285)ATG>ATT		neurexin 3 isoform 1 precursor							134.0	117.0	123.0					14																	79175742		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79175742G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.285G>T	14.37:g.79175742G>T	ENSP00000451648:p.Met95Ile					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.M229I	p.M95I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	776	+		Renal(4;0.00876)	468			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.285G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436018	0.43224	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78707	-1.17;-1.2;-1.2;-1.17	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.143683	0.64402	D	0.000009	T	0.62588	0.2440	N	0.10972	0.075	0.50813	D	0.999897	B;B	0.24533	0.105;0.029	B;B	0.22152	0.03;0.038	T	0.58476	-0.7630	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	468;95	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	I	468;466;39;95;95;39	ENSP00000451947:M39I;ENSP00000451648:M95I;ENSP00000338349:M95I;ENSP00000450462:M39I	.	M	+	3	0	NRXN3	78245495	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	ATG		0.517	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		16	73	1	0	6.32e-08	6.83e-08	16	73				
DICER1	23405	broad.mit.edu	37	14	95596530	95596530	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr14:95596530C>T	ENST00000526495.1	-	7	730		c.e7-1		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAATGAGAACCTAAAATAAAA	0.333			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.e6-1		dicer1							69.0	59.0	62.0					14																	95596530		2203	4300	6503	SO:0001630	splice_region_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95596530C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.439-1G>A	14.37:g.95596530C>T						DICER1_uc001ydv.2_Splice_Site_p.V137_splice|DICER1_uc001ydx.2_Splice_Site_p.V147_splice	p.V147_splice	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	6	621	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)						A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37	c.439_splice	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379625	0.82682	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.134	0.98015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DICER1	94666283	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.397000	0.79903	2.753000	0.94483	0.650000	0.86243	.		0.333	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Intron	4	20	0	0	0	0	4	20				
ATP10A	57194	broad.mit.edu	37	15	25924588	25924588	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:25924588G>A	ENST00000356865.6	-	21	4511	c.4400C>T	c.(4399-4401)gCg>gTg	p.A1467V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1467					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCACGTCCCGCTTGTCCATC	0.567																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(4399-4401)GCG>GTG		ATPase, class V, type 10A							56.0	57.0	57.0					15																	25924588		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924588G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4400C>T	15.37:g.25924588G>A	ENSP00000349325:p.Ala1467Val						p.A1467V	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4506	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1467			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4400C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239019	0.22711	.	.	ENSG00000206190	ENST00000356865	T	0.10573	2.86	5.26	4.35	0.52113	.	21.328400	0.00166	N	0.000000	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.33073	0.396	B	0.28139	0.086	T	0.42327	-0.9458	10	0.28530	T	0.3	2.8142	13.8182	0.63306	0.0:0.0:0.8471:0.1529	.	1467	O60312	AT10A_HUMAN	V	1467	ENSP00000349325:A1467V	ENSP00000349325:A1467V	A	-	2	0	ATP10A	23475681	0.327000	0.24678	0.008000	0.14137	0.009000	0.06853	2.782000	0.47758	1.437000	0.47472	0.655000	0.94253	GCG		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	40	0	0	0	0	10	40				
SERF2	10169	broad.mit.edu	37	15	44085227	44085227	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:44085227C>T	ENST00000381359.1	+	4	991	c.62C>T	c.(61-63)tCg>tTg	p.S21L	SERF2_ENST00000339624.5_Missense_Mutation_p.S21L|SERF2_ENST00000403425.1_Missense_Mutation_p.S7L|SERF2_ENST00000409614.1_Missense_Mutation_p.S7L|SERF2_ENST00000249786.4_Missense_Mutation_p.S21L|SERF2_ENST00000594896.1_5'UTR|SERF2_ENST00000409646.1_Missense_Mutation_p.S21L|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000402131.1_Missense_Mutation_p.S7L|SERF2_ENST00000409291.1_Missense_Mutation_p.S7L|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.S21L	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	21						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAGCGACTCGGTTAAGGGA	0.597																																						uc001zsz.3		NA																	0					0						c.(61-63)TCG>TTG		small EDRK-rich factor 2							34.0	37.0	36.0					15																	44085227		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085227C>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.62C>T	15.37:g.44085227C>T	ENSP00000370764:p.Ser21Leu					ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.S21L|SERF2_uc010uee.1_5'UTR|C15orf63_uc001ztb.2_5'UTR	p.S21L	NM_001018108	NP_001018118	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	2	160	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	21					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.62C>T	CCDS32218.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963135	0.53507	.	.	ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000409646;ENST00000409960;ENST00000339624;ENST00000409291;ENST00000402131;ENST00000403425;ENST00000430901;ENST00000409614	T;T;T;T;T;T;T;T	0.46451	0.97;0.97;0.87;0.95;0.89;1.02;1.02;1.02	6.08	6.08	0.98989	.	.	.	.	.	T	0.31734	0.0806	N	0.12961	0.28	0.26005	N	0.982067	D;B	0.56968	0.978;0.018	P;B	0.47118	0.538;0.005	T	0.14008	-1.0488	9	0.08179	T	0.78	.	16.1635	0.81734	0.0:1.0:0.0:0.0	.	21;21	B9A026;P84101	.;SERF2_HUMAN	L	21;21;21;21;21;7;7;7;7;7	ENSP00000370764:S21L;ENSP00000249786:S21L;ENSP00000386316:S21L;ENSP00000387187:S21L;ENSP00000339647:S21L;ENSP00000386044:S7L;ENSP00000384300:S7L;ENSP00000386783:S7L	ENSP00000249786:S21L	S	+	2	0	SERF2	41872519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.869000	0.39519	2.894000	0.99253	0.655000	0.94253	TCG		0.597	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		6	24	0	0	0	0	6	24				
SQRDL	58472	broad.mit.edu	37	15	45962152	45962152	+	Silent	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:45962152T>G	ENST00000260324.7	+	4	818	c.432T>G	c.(430-432)gcT>gcG	p.A144A	RP11-96O20.4_ENST00000564080.1_Silent_p.A144A|SQRDL_ENST00000568606.1_Silent_p.A144A	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	144					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTATTATTGCTCTCGGAATCC	0.433																																						uc001zvt.2		NA																	0				ovary(1)	1						c.(430-432)GCT>GCG		sulfide dehydrogenase like precursor							282.0	256.0	265.0					15																	45962152		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45962152T>G	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.432T>G	15.37:g.45962152T>G						SQRDL_uc001zvu.2_Silent_p.A144A|SQRDL_uc001zvv.2_Silent_p.A144A	p.A144A	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	5	621	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	144					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.432T>G	CCDS10127.1																																																																																				0.433	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			27	156	0	0	0	0	27	156				
RASGRF1	5923	broad.mit.edu	37	15	79339164	79339164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:79339164G>A	ENST00000419573.3	-	5	1076	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R268C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	268	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R268C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCAGCGGGCGCAGGAAATTG	0.587																																						uc002beq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(802-804)CGC>TGC		Ras protein-specific guanine							133.0	107.0	116.0					15																	79339164		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79339164G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.802C>T	15.37:g.79339164G>A	ENSP00000405963:p.Arg268Cys					RASGRF1_uc002bep.2_Missense_Mutation_p.R268C|RASGRF1_uc010blm.1_Missense_Mutation_p.R190C|RASGRF1_uc002ber.3_Missense_Mutation_p.R268C	p.R268C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			5	1177	-			268			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.802C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639842	0.67244	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.65178	-0.14	4.03	4.03	0.46877	Dbl homology (DH) domain (5);	0.072935	0.53938	D	0.000041	T	0.72374	0.3452	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.997	T	0.75758	-0.3205	10	0.87932	D	0	.	13.7003	0.62604	0.0:0.0:1.0:0.0	.	268;268;268;268	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	C	268	ENSP00000405963:R268C	ENSP00000378224:R268C	R	-	1	0	RASGRF1	77126219	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.169000	0.42434	2.072000	0.62099	0.655000	0.94253	CGC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		13	75	0	0	0	0	13	75				
IL16	3603	broad.mit.edu	37	15	81598343	81598343	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:81598343G>A	ENST00000302987.4	+	16	3515	c.3515G>A	c.(3514-3516)gGg>gAg	p.G1172E	IL16_ENST00000394660.2_Missense_Mutation_p.G1172E|IL16_ENST00000394652.2_Missense_Mutation_p.G471E|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1172	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTCTCAAGGGGACCACGCAC	0.567																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(3514-3516)GGG>GAG		interleukin 16 isoform 2							163.0	165.0	165.0					15																	81598343		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598343G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3515G>A	15.37:g.81598343G>A	ENSP00000302935:p.Gly1172Glu					IL16_uc010blq.1_Missense_Mutation_p.G1126E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G1214E|IL16_uc002bgg.2_Missense_Mutation_p.G1172E|IL16_uc002bgi.1_Missense_Mutation_p.G562E|IL16_uc002bgj.2_Missense_Mutation_p.G666E|IL16_uc002bgk.2_Missense_Mutation_p.G471E|IL16_uc002bgl.1_Missense_Mutation_p.G471E|IL16_uc010unq.1_Missense_Mutation_p.G471E	p.G1172E	NM_172217	NP_757366	Q14005	IL16_HUMAN			17	3891	+			1172			PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3515G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443758	0.43429	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.36520	1.25;1.25;1.25	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.47852	D	0.000218	T	0.63931	0.2553	M	0.82630	2.6	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;0.994;1.0;1.0;0.999	T	0.67499	-0.5655	10	0.45353	T	0.12	.	17.6977	0.88286	0.0:0.0:1.0:0.0	.	1004;665;709;562;1172;1172	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	E	1172;1004;1172;709;562;471;471	ENSP00000378155:G1172E;ENSP00000302935:G1172E;ENSP00000378147:G471E	ENSP00000302935:G1172E	G	+	2	0	IL16	79385398	1.000000	0.71417	0.550000	0.28217	0.002000	0.02628	4.143000	0.58051	2.386000	0.81285	0.655000	0.94253	GGG		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		38	152	0	0	0	0	38	152				
SH3GL3	6457	broad.mit.edu	37	15	84241361	84241361	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:84241361G>A	ENST00000427482.2	+	5	682	c.376G>A	c.(376-378)Gag>Aag	p.E126K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.E134K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E126K|SH3GL3_ENST00000324537.5_Missense_Mutation_p.E134K	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	126	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTAATGGCTGAGGTGAAAGA	0.353																																						uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(376-378)GAG>AAG		SH3-domain GRB2-like 3							119.0	106.0	111.0					15																	84241361		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84241361G>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.376G>A	15.37:g.84241361G>A	ENSP00000391372:p.Glu126Lys					SH3GL3_uc010uot.1_Missense_Mutation_p.E126K|SH3GL3_uc002bjx.2_Missense_Mutation_p.E57K|SH3GL3_uc002bju.2_Missense_Mutation_p.E134K|SH3GL3_uc002bjv.2_RNA	p.E126K	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			5	571	+			126			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.376G>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	31	5.076906	0.94000	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.45	5.45	0.79879	BAR (3);	0.212952	0.47852	D	0.000215	T	0.77558	0.4148	M	0.73598	2.24	0.80722	D	1	P;D;D	0.57571	0.929;0.98;0.975	P;P;P	0.61132	0.622;0.884;0.876	T	0.77996	-0.2377	10	0.51188	T	0.08	-10.3257	18.6219	0.91323	0.0:0.0:1.0:0.0	.	126;126;134	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	K	126;126;134;134	ENSP00000391372:E126K;ENSP00000439239:E126K;ENSP00000320092:E134K;ENSP00000397871:E134K	ENSP00000320092:E134K	E	+	1	0	SH3GL3	82032365	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.363000	0.79516	2.715000	0.92844	0.585000	0.79938	GAG		0.353	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		10	54	0	0	0	0	10	54				
CHSY1	22856	broad.mit.edu	37	15	101791398	101791398	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr15:101791398G>A	ENST00000254190.3	-	1	739	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	88					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACTCCCACGAAGAGAAAGT	0.736																																						uc002bwt.1		NA																	0					0						c.(262-264)TTC>TTT		chondroitin sulfate synthase 1							8.0	9.0	9.0					15																	101791398		2182	4278	6460	SO:0001819	synonymous_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101791398G>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.264C>T	15.37:g.101791398G>A							p.F88F	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	747	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		88			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	c.264C>T	CCDS10390.1																																																																																				0.736	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		5	8	0	0	0	0	5	8				
USP7	7874	broad.mit.edu	37	16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:8989591C>G	ENST00000344836.4	-	27	3025	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	USP7_ENST00000381886.4_Missense_Mutation_p.E927Q|USP7_ENST00000535863.1_Missense_Mutation_p.E844Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	943					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTACAATTTCTAGCAGCCTG	0.333																																						uc002czl.2		NA																	0				ovary(3)	3						c.(2827-2829)GAA>CAA		ubiquitin specific peptidase 7							49.0	48.0	48.0					16																	8989591		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989591C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2827G>C	16.37:g.8989591C>G	ENSP00000343535:p.Glu943Gln					USP7_uc010uyk.1_Missense_Mutation_p.E844Q|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.E844Q|USP7_uc002czk.2_Missense_Mutation_p.E927Q	p.E943Q	NM_003470	NP_003461	Q93009	UBP7_HUMAN			27	3026	-			943					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2827G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766487	0.90020	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.09350	2.99;3.0	5.64	5.64	0.86602	.	0.424754	0.26594	N	0.023501	T	0.21062	0.0507	L	0.58810	1.83	0.80722	D	1	P;P	0.44578	0.838;0.838	P;P	0.46758	0.526;0.526	T	0.00151	-1.1985	10	0.48119	T	0.1	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	943;927	Q93009;B7Z815	UBP7_HUMAN;.	Q	943;951;844	ENSP00000343535:E943Q;ENSP00000443646:E844Q	ENSP00000343535:E943Q	E	-	1	0	USP7	8897092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.700000	0.84556	2.657000	0.90304	0.650000	0.86243	GAA		0.333	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			17	24	0	0	0	0	17	24				
IGSF6	10261	broad.mit.edu	37	16	21654396	21654396	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:21654396G>A	ENST00000268389.4	-	5	726	c.665C>T	c.(664-666)tCt>tTt	p.S222F	RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron|RNU6-196P_ENST00000384315.1_RNA	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	222					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TACACTTACAGATTGCTGATT	0.338																																						uc002djg.1		NA																	0					0						c.(664-666)TCT>TTT		immunoglobulin superfamily, member 6 precursor							84.0	84.0	84.0					16																	21654396		2198	4300	6498	SO:0001630	splice_region_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21654396G>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.666+1C>T	16.37:g.21654396G>A						uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	p.S222F	NM_005849	NP_005840	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	5	718	-			222			Cytoplasmic (Potential).		Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.665C>T	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200436	0.09652	.	.	ENSG00000140749	ENST00000268389	T	0.25085	1.82	5.76	0.488	0.16848	.	1.129270	0.06438	N	0.725503	T	0.14657	0.0354	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.24541	0.054	T	0.31475	-0.9942	10	0.62326	D	0.03	-9.4875	4.5206	0.11958	0.3102:0.0:0.5468:0.143	.	222	O95976	IGSF6_HUMAN	F	222	ENSP00000268389:S222F	ENSP00000268389:S222F	S	-	2	0	IGSF6	21561897	0.036000	0.19791	0.020000	0.16555	0.022000	0.10575	0.274000	0.18680	-0.040000	0.13580	-0.827000	0.03088	TCT		0.338	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1		Missense_Mutation	44	62	0	0	0	0	44	62				
ZNF423	23090	broad.mit.edu	37	16	49764853	49764853	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:49764853G>C	ENST00000561648.1	-	3	159	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	ZNF423_ENST00000562520.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q36E|ZNF423_ENST00000563137.2_De_novo_Start_OutOfFrame|ZNF423_ENST00000562871.1_De_novo_Start_OutOfFrame	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	36					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGGTTTTCTGATCGCACTCT	0.498																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(106-108)CAG>GAG		zinc finger protein 423							287.0	247.0	261.0					16																	49764853		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764853G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.106C>G	16.37:g.49764853G>C	ENSP00000455426:p.Gln36Glu						p.Q36E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	404	-		all_cancers(37;0.0155)	36					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.106C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253249	0.22965	.	.	ENSG00000102935	ENST00000262383	T	0.08008	3.14	4.87	3.79	0.43588	.	0.636546	0.12545	N	0.459530	T	0.04003	0.0112	N	0.08118	0	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	9	.	.	.	.	6.8251	0.23878	0.0:0.1617:0.525:0.3133	.	36	Q2M1K9	ZN423_HUMAN	E	36	ENSP00000262383:Q36E	.	Q	-	1	0	ZNF423	48322354	0.962000	0.33011	1.000000	0.80357	0.685000	0.39939	1.530000	0.36007	2.394000	0.81467	0.205000	0.17691	CAG		0.498	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		45	181	0	0	0	0	45	181				
SALL1	6299	broad.mit.edu	37	16	51172806	51172806	+	Silent	SNP	C	C	T	rs375357921		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:51172806C>T	ENST00000251020.4	-	2	3360	c.3327G>A	c.(3325-3327)ccG>ccA	p.P1109P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.P1012P	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3325-3327)CCG>CCA		sal-like 1 isoform a		C	,	0,4396		0,0,2198	97.0	83.0	88.0		3036,3327	-5.3	0.4	16		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	1012/1228,1109/1325	51172806	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172806C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3327G>A	16.37:g.51172806C>T						SALL1_uc010vgr.1_Silent_p.P1012P|SALL1_uc010cbv.2_Intron	p.P1109P	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3358	-		all_cancers(37;0.0322)	1109					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3327G>A	CCDS10747.1																																																																																				0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		19	33	0	0	0	0	19	33				
CNGB1	1258	broad.mit.edu	37	16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T	rs574295098		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:57953078C>T	ENST00000251102.8	-	20	1942	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D622N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	628					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGAGCATGTCGCAATAGTGC	0.577																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(1882-1884)GAC>AAC		cyclic nucleotide gated channel beta 1 isoform							104.0	109.0	107.0					16																	57953078		1998	4178	6176	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57953078C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1882G>A	16.37:g.57953078C>T	ENSP00000251102:p.Asp628Asn					CNGB1_uc010cdh.2_Missense_Mutation_p.D622N	p.D628N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			20	1947	-			628			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1882G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912135	0.33721	.	.	ENSG00000070729	ENST00000251102	D	0.96830	-4.14	4.52	1.5	0.22942	.	0.485776	0.19262	N	0.118644	D	0.92698	0.7679	L	0.48642	1.525	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	D	0.86784	0.1981	10	0.45353	T	0.12	.	8.7631	0.34687	0.0:0.7462:0.0:0.2538	.	628	Q14028	CNGB1_HUMAN	N	628	ENSP00000251102:D628N	ENSP00000251102:D628N	D	-	1	0	CNGB1	56510579	0.892000	0.30473	0.529000	0.27951	0.969000	0.65631	1.740000	0.38228	0.268000	0.21939	-0.254000	0.11334	GAC		0.577	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		19	37	0	0	0	0	19	37				
CES2	8824	broad.mit.edu	37	16	66975486	66975486	+	Missense_Mutation	SNP	C	C	G	rs377363997		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:66975486C>G	ENST00000317091.4	+	7	2169	c.1185C>G	c.(1183-1185)gaC>gaG	p.D395E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.D395E	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	331					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CCTCTGCCGACTTTCAGCCTG	0.592																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	0					0						c.(1183-1185)GAC>GAG		carboxylesterase 2 isoform 1							61.0	62.0	62.0					16																	66975486		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66975486C>G	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1185C>G	16.37:g.66975486C>G	ENSP00000317842:p.Asp395Glu					CES2_uc002eqq.2_Missense_Mutation_p.D395E|CES2_uc002eqs.2_Missense_Mutation_p.D238E	p.D395E	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	7	2185	+		Ovarian(137;0.0563)	331					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1185C>G	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	5.998	0.367975	0.11352	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.65549	-0.16;-0.16	5.12	-0.339	0.12647	Carboxylesterase, type B (1);	0.098560	0.45126	D	0.000385	T	0.36054	0.0953	N	0.17631	0.505	0.28369	N	0.920098	B;B	0.09022	0.002;0.001	B;B	0.17979	0.02;0.02	T	0.06180	-1.0841	10	0.33940	T	0.23	.	1.1269	0.01736	0.3324:0.2899:0.2215:0.1561	.	331;395	O00748;A8K367	EST2_HUMAN;.	E	395	ENSP00000394452:D395E;ENSP00000317842:D395E	ENSP00000317842:D395E	D	+	3	2	CES2	65532987	0.005000	0.15991	0.989000	0.46669	0.036000	0.12997	-0.817000	0.04472	0.334000	0.23590	-0.158000	0.13435	GAC		0.592	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		11	34	0	0	0	0	11	34				
AP1G1	164	broad.mit.edu	37	16	71823366	71823366	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:71823366C>G	ENST00000299980.4	-	2	458	c.17G>C	c.(16-18)aGa>aCa	p.R6T	AP1G1_ENST00000433195.2_Missense_Mutation_p.R29T|AP1G1_ENST00000423132.2_Missense_Mutation_p.R6T|AP1G1_ENST00000393512.3_Missense_Mutation_p.R6T|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Missense_Mutation_p.R6T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	6					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTCCCGCAATCTGATGGGGGC	0.438																																						uc010cgg.2		NA																	0				ovary(2)	2						c.(16-18)AGA>ACA		adaptor-related protein complex 1, gamma 1							84.0	75.0	78.0					16																	71823366		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71823366C>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.17G>C	16.37:g.71823366C>G	ENSP00000299980:p.Arg6Thr					AP1G1_uc002fba.2_Missense_Mutation_p.R6T|AP1G1_uc002fbb.2_Missense_Mutation_p.R29T|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.R88T	p.R6T	NM_001128	NP_001119	O43747	AP1G1_HUMAN			2	331	-		Ovarian(137;0.125)	6					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.17G>C	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024622	0.93518	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.48201	2.42;2.42;2.41;2.43;0.82	5.47	5.47	0.80525	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.65815	0.993;0.991;0.992;0.995	P;D;D;D	0.68621	0.899;0.911;0.935;0.959	T	0.73802	-0.3868	10	0.56958	D	0.05	-10.0962	19.3236	0.94252	0.0:1.0:0.0:0.0	.	88;6;29;6	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	T	6;6;6;29;88;6	ENSP00000299980:R6T;ENSP00000377148:R6T;ENSP00000409153:R6T;ENSP00000403259:R29T;ENSP00000405836:R6T	ENSP00000299980:R6T	R	-	2	0	AP1G1	70380867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.560000	0.86352	0.467000	0.42956	AGA		0.438	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	66	0	0	0	0	15	66				
DHODH	1723	broad.mit.edu	37	16	72046112	72046112	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72046112C>A	ENST00000219240.4	+	2	206	c.185C>A	c.(184-186)aCc>aAc	p.T62N	DHODH_ENST00000572887.1_Missense_Mutation_p.T62N	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	62					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GTTCGCTTCACCTCCCTGGGG	0.567																																						uc002fbp.2		NA																	0					0						c.(184-186)ACC>AAC		dihydroorotate dehydrogenase precursor	Atovaquone(DB01117)|Leflunomide(DB01097)						60.0	68.0	66.0					16																	72046112		2164	4282	6446	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72046112C>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.185C>A	16.37:g.72046112C>A	ENSP00000219240:p.Thr62Asn					DHODH_uc010cgk.2_RNA	p.T62N	NM_001361	NP_001352	Q02127	PYRD_HUMAN			2	206	+		Ovarian(137;0.125)	62			Mitochondrial intermembrane (By similarity).		A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.185C>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228982	0.22542	.	.	ENSG00000102967	ENST00000219240	D	0.94138	-3.36	4.87	1.55	0.23275	Aldolase-type TIM barrel (1);	0.476920	0.25083	N	0.033263	D	0.86468	0.5940	L	0.29908	0.895	0.09310	N	1	B	0.19331	0.035	B	0.20184	0.028	T	0.75311	-0.3362	10	0.33940	T	0.23	-6.6896	8.354	0.32318	0.0:0.6478:0.0:0.3522	.	62	Q02127	PYRD_HUMAN	N	62	ENSP00000219240:T62N	ENSP00000219240:T62N	T	+	2	0	DHODH	70603613	0.002000	0.14202	0.884000	0.34674	0.796000	0.44982	1.415000	0.34748	0.615000	0.30124	0.563000	0.77884	ACC		0.567	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		16	58	1	0	9.77e-05	0.000102125	16	58				
ZFHX3	463	broad.mit.edu	37	16	72821072	72821072	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:72821072G>A	ENST00000268489.5	-	10	11775	c.11103C>T	c.(11101-11103)ttC>ttT	p.F3701F	ZFHX3_ENST00000397992.5_Silent_p.F2787F|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3701					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTACAATCTGAAGGTGTCCG	0.438																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(11101-11103)TTC>TTT		zinc finger homeobox 3 isoform A							140.0	151.0	147.0					16																	72821072		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821072G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11103C>T	16.37:g.72821072G>A						uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.F2787F	p.F3701F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11776	-		Ovarian(137;0.13)	3701					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.11103C>T	CCDS10908.1																																																																																				0.438	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		46	172	0	0	0	0	46	172				
CHRNE	1145	broad.mit.edu	37	17	4799024	4799024	+	IGR	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:4799024G>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Silent_p.L1058L|MINK1_ENST00000453408.3_Silent_p.L1067L|MINK1_ENST00000355280.6_Silent_p.L1087L	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGTATTACCTGTCCTGGCTCC	0.602																																						uc010vsl.1		NA																	0				central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(3259-3261)CTG>CTT		misshapen-like kinase 1 isoform 3							40.0	45.0	43.0					17																	4799024		2003	4164	6167	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799024G>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799024G>T						MINK1_uc010vsk.1_Silent_p.L1058L|MINK1_uc010vsm.1_Silent_p.L1067L|MINK1_uc010vsn.1_Silent_p.L1050L|MINK1_uc010vso.1_Silent_p.L995L|MINK1_uc010vsp.1_Silent_p.L548L	p.L1087L	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			27	3457	+			1087			Mediates interaction with RAP2A.|CNH.		D3DTK6	Silent	SNP	ENST00000293780.4	37	c.3261G>T	CCDS11058.1																																																																																				0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			4	20	1	0	0.00024832	0.000258271	4	20				
TEKT1	83659	broad.mit.edu	37	17	6722633	6722633	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722633C>T	ENST00000338694.2	-	3	364	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	79						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCAAGTTTGTCATCTAACTCC	0.448																																						uc002gdt.2		NA																	0				ovary(1)|skin(1)	2						c.(235-237)GAC>AAC		tektin 1							103.0	98.0	99.0					17																	6722633		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6722633C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.235G>A	17.37:g.6722633C>T	ENSP00000341346:p.Asp79Asn					TEKT1_uc010vth.1_Intron	p.D79N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			3	345	-		Myeloproliferative disorder(207;0.0255)	79			Potential.		D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.235G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556582	0.27827	.	.	ENSG00000167858	ENST00000338694	T	0.02323	4.34	5.21	4.23	0.50019	.	0.401360	0.28453	N	0.015293	T	0.01870	0.0059	N	0.11724	0.165	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55438	-0.8141	10	0.22109	T	0.4	.	8.5993	0.33734	0.0:0.8219:0.0:0.1781	.	79	Q969V4	TEKT1_HUMAN	N	79	ENSP00000341346:D79N	ENSP00000341346:D79N	D	-	1	0	TEKT1	6663357	0.173000	0.23056	0.991000	0.47740	0.958000	0.62258	0.549000	0.23329	1.308000	0.44962	0.655000	0.94253	GAC		0.448	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		10	36	0	0	0	0	10	36				
TEKT1	83659	broad.mit.edu	37	17	6722667	6722667	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722667G>C	ENST00000338694.2	-	3	330	c.201C>G	c.(199-201)ctC>ctG	p.L67L	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	67						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGACTTCCTCGAGTCTCTGTT	0.408																																						uc002gdt.2		NA																	0				ovary(1)|skin(1)	2						c.(199-201)CTC>CTG		tektin 1							63.0	60.0	61.0					17																	6722667		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6722667G>C		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.201C>G	17.37:g.6722667G>C						TEKT1_uc010vth.1_Intron	p.L67L	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			3	311	-		Myeloproliferative disorder(207;0.0255)	67			Potential.		D3DTM7	Silent	SNP	ENST00000338694.2	37	c.201C>G	CCDS11083.1																																																																																				0.408	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		8	24	0	0	0	0	8	24				
TEKT1	83659	broad.mit.edu	37	17	6722673	6722673	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:6722673C>G	ENST00000338694.2	-	3	324	c.195G>C	c.(193-195)caG>caC	p.Q65H	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	65						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTCGAGTCTCTGTTCTGAAG	0.418																																						uc002gdt.2		NA																	0				ovary(1)|skin(1)	2						c.(193-195)CAG>CAC		tektin 1							59.0	56.0	57.0					17																	6722673		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6722673C>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.195G>C	17.37:g.6722673C>G	ENSP00000341346:p.Gln65His					TEKT1_uc010vth.1_Intron	p.Q65H	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			3	305	-		Myeloproliferative disorder(207;0.0255)	65			Potential.		D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.195G>C	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587648	0.66105	.	.	ENSG00000167858	ENST00000338694	T	0.02763	4.17	5.21	5.21	0.72293	.	0.116785	0.64402	D	0.000013	T	0.12135	0.0295	M	0.82823	2.61	0.80722	D	1	P	0.48764	0.915	P	0.57425	0.82	T	0.00019	-1.2360	10	0.59425	D	0.04	.	10.15	0.42786	0.0:0.9085:0.0:0.0915	.	65	Q969V4	TEKT1_HUMAN	H	65	ENSP00000341346:Q65H	ENSP00000341346:Q65H	Q	-	3	2	TEKT1	6663397	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.262000	0.43285	2.597000	0.87782	0.655000	0.94253	CAG		0.418	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		5	24	0	0	0	0	5	24				
YBX2	51087	broad.mit.edu	37	17	7192917	7192918	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7192917_7192918GG>AA	ENST00000007699.5	-	7	1038_1039	c.975_976CC>TT	c.(973-978)ttCCag>ttTTag	p.Q326*	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	326	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGTCTCCGCTGGAAGTAGGGGC	0.678																																						uc002gfq.2		NA																	0					0						c.(973-978)TTCCAG>TTTTAG		Y box binding protein 2																																				SO:0001587	stop_gained	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192917_7192918GG>AA	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.975_976delinsAA	17.37:g.7192917_7192918delinsAA	ENSP00000007699:p.Gln326*						p.Q326*	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			7	1032_1033	-			326			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Nonsense_Mutation	DNP	ENST00000007699.5	37	c.975_976CC>TT	CCDS11098.1																																																																																				0.678	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		10	36	0	0	0	0	10	36				
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:7193599G>A	ENST00000007699.5	-	5	778	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622																																						uc002gfq.2		NA																	0					0						c.(715-717)CGG>TGG		Y box binding protein 2							94.0	114.0	107.0					17																	7193599		2201	4292	6493	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193599G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.715C>T	17.37:g.7193599G>A	ENSP00000007699:p.Arg239Trp						p.R239W	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			5	772	-			239			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.715C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250486	0.59212	.	.	ENSG00000006047	ENST00000007699	T	0.28069	1.63	5.26	4.27	0.50696	.	0.076167	0.52532	D	0.000065	T	0.46328	0.1387	L	0.45137	1.4	0.42567	D	0.993168	D	0.89917	1.0	D	0.79784	0.993	T	0.46952	-0.9154	10	0.72032	D	0.01	-11.6628	12.9596	0.58451	0.0:0.0:0.8196:0.1804	.	239	Q9Y2T7	YBOX2_HUMAN	W	239	ENSP00000007699:R239W	ENSP00000007699:R239W	R	-	1	2	YBX2	7134323	0.989000	0.36119	0.998000	0.56505	0.910000	0.53928	2.053000	0.41326	1.292000	0.44672	0.561000	0.74099	CGG		0.622	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		39	161	0	0	0	0	39	161				
USP43	124739	broad.mit.edu	37	17	9631983	9631983	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:9631983C>G	ENST00000285199.7	+	15	3144	c.3048C>G	c.(3046-3048)gtC>gtG	p.V1016V	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.V1011V	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1016					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGGCAGAGGTCTCTCCACAGG	0.642																																						uc010cod.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(3046-3048)GTC>GTG		ubiquitin specific protease 43							20.0	24.0	23.0					17																	9631983		1964	4136	6100	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631983C>G	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3048C>G	17.37:g.9631983C>G						USP43_uc002gma.3_Silent_p.V705V|USP43_uc010vva.1_Silent_p.V1011V|USP43_uc010coe.2_Silent_p.V813V|USP43_uc002gmc.3_Silent_p.V528V	p.V1016V	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			15	3048	+			1016					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.3048C>G	CCDS45610.1																																																																																				0.642	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		9	9	0	0	0	0	9	9				
MYH13	8735	broad.mit.edu	37	17	10233795	10233795	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10233795C>T	ENST00000418404.3	-	20	2507	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D782N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	782	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTTCTCATCTCTCATCTCC	0.542																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(2344-2346)GAT>AAT		myosin, heavy polypeptide 13, skeletal muscle							80.0	83.0	82.0					17																	10233795		2187	4299	6486	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233795C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2344G>A	17.37:g.10233795C>T	ENSP00000404570:p.Asp782Asn						p.D782N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			21	2434	-			782			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2344G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630192	0.87660	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93307	-3.2	3.94	3.94	0.45596	Myosin head, motor domain (1);	.	.	.	.	D	0.96402	0.8826	M	0.78049	2.395	0.50313	D	0.99986	D	0.62365	0.991	D	0.78314	0.991	D	0.97142	0.9825	9	0.87932	D	0	.	16.5448	0.84426	0.0:1.0:0.0:0.0	.	782	Q9UKX3	MYH13_HUMAN	N	782;457	ENSP00000252172:D782N	ENSP00000252172:D782N	D	-	1	0	MYH13	10174520	1.000000	0.71417	0.863000	0.33907	0.716000	0.41182	7.624000	0.83124	2.190000	0.69967	0.563000	0.77884	GAT		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	20	0	0	0	0	7	20				
MYH4	4622	broad.mit.edu	37	17	10359162	10359162	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:10359162C>G	ENST00000255381.2	-	18	2135	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATGATGCACCGCACAAAGT	0.428																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2023-2025)CGG>CGC		myosin, heavy polypeptide 4, skeletal muscle							145.0	144.0	145.0					17																	10359162		2203	4297	6500	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359162C>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2025G>C	17.37:g.10359162C>G						uc002gml.1_Intron	p.R675R	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			18	2136	-			675			Myosin head-like.|Actin-binding (By similarity).			Silent	SNP	ENST00000255381.2	37	c.2025G>C	CCDS11154.1																																																																																				0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		26	113	0	0	0	0	26	113				
MYOCD	93649	broad.mit.edu	37	17	12656440	12656440	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:12656440C>G	ENST00000343344.4	+	10	1835	c.1835C>G	c.(1834-1836)gCt>gGt	p.A612G	MYOCD_ENST00000425538.1_Missense_Mutation_p.A612G|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A516G|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	612					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTGGAAATGCTCATTGTGTG	0.512																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1834-1836)GCT>GGT		myocardin isoform 2							126.0	134.0	132.0					17																	12656440		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656440C>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1835C>G	17.37:g.12656440C>G	ENSP00000341835:p.Ala612Gly					MYOCD_uc002gno.2_Missense_Mutation_p.A612G|MYOCD_uc002gnp.1_Missense_Mutation_p.A516G|MYOCD_uc002gnq.2_Missense_Mutation_p.A331G	p.A612G	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2134	+			612					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1835C>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	6.665	0.491237	0.12702	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.45276	0.9;0.92	4.85	1.38	0.22167	.	1.110610	0.06526	N	0.740509	T	0.30448	0.0765	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.003;0.002;0.0	T	0.23797	-1.0178	10	0.25106	T	0.35	0.0	9.7793	0.40639	0.1358:0.3251:0.5391:0.0	.	331;516;612;612	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	G	331;612;612;516;317	ENSP00000341835:A612G;ENSP00000400148:A317G	ENSP00000341835:A612G	A	+	2	0	MYOCD	12597165	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	1.170000	0.31883	0.568000	0.29311	0.655000	0.94253	GCT		0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		34	110	0	0	0	0	34	110				
NEK8	284086	broad.mit.edu	37	17	27061083	27061083	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27061083G>A	ENST00000268766.6	+	2	164	c.130G>A	c.(130-132)Gag>Aag	p.E44K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	44	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GACCAAGGAAGAGCGGCAGGC	0.527																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NA																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(130-132)GAG>AAG		NIMA-related kinase 8							107.0	95.0	99.0					17																	27061083		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061083G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.130G>A	17.37:g.27061083G>A	ENSP00000268766:p.Glu44Lys						p.E44K	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			2	130	+	Lung NSC(42;0.0158)		44			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.130G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489439	0.96323	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.63744	-0.06;-0.06	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	T	0.73043	-0.4107	10	0.62326	D	0.03	.	17.124	0.86710	0.0:0.0:1.0:0.0	.	44	Q86SG6	NEK8_HUMAN	K	44	ENSP00000465859:E44K;ENSP00000268766:E44K	ENSP00000268766:E44K	E	+	1	0	NEK8	24085210	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.706000	0.84615	2.267000	0.75376	0.313000	0.20887	GAG		0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			11	57	0	0	0	0	11	57				
GIT1	28964	broad.mit.edu	37	17	27903555	27903555	+	Silent	SNP	C	C	G	rs145208703		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:27903555C>G	ENST00000225394.3	-	13	1613	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.R464R|GIT1_ENST00000581348.1_Silent_p.R464R|GIT1_ENST00000579937.1_Silent_p.R455R	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	455					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCTGCAGCCTCCGGAGCTCGT	0.622																																					Colon(81;41 1719 20078 35068)	uc002hef.2		NA																	0					0						c.(1363-1365)CGG>CGC		G protein-coupled receptor kinase interactor 1		C	,	0,4406		0,0,2203	67.0	65.0	66.0		1392,1365	3.7	1.0	17	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GIT1	NM_001085454.1,NM_014030.3	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	464/771,455/762	27903555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903555C>G	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1365G>C	17.37:g.27903555C>G						GIT1_uc002heg.2_Silent_p.R464R|GIT1_uc010wbg.1_Silent_p.R464R|GIT1_uc010csb.1_Silent_p.R455R	p.R455R	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	13	1579	-			455					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.1365G>C	CCDS11250.1																																																																																				0.622	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		13	49	0	0	0	0	13	49				
KCNH6	81033	broad.mit.edu	37	17	61623093	61623093	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:61623093G>C	ENST00000583023.1	+	14	2826	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	KCNH6_ENST00000581784.1_Missense_Mutation_p.E850Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E850Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.E903Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	939					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGAACAGCCTGAGGGGCTCTG	0.582																																						uc002jay.2		NA																	0				skin(1)	1						c.(2815-2817)GAG>CAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						111.0	101.0	104.0					17																	61623093		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623093G>C	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2815G>C	17.37:g.61623093G>C	ENSP00000463533:p.Glu939Gln					KCNH6_uc010wpl.1_Missense_Mutation_p.E780Q|KCNH6_uc010wpm.1_Missense_Mutation_p.E903Q|KCNH6_uc002jaz.1_Missense_Mutation_p.E850Q	p.E939Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			14	2895	+			939			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2815G>C	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124893	0.20959	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99264	-5.65	4.84	-0.0201	0.13957	.	0.778590	0.10423	U	0.676381	D	0.96172	0.8752	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	D	0.90969	0.4818	10	0.17369	T	0.5	.	1.3301	0.02133	0.1737:0.2296:0.3897:0.2071	.	780;903;850;939	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	Q	939;850	ENSP00000396900:E850Q	ENSP00000318212:E939Q	E	+	1	0	KCNH6	58976825	0.000000	0.05858	0.116000	0.21606	0.669000	0.39330	0.437000	0.21543	0.153000	0.19213	0.563000	0.77884	GAG		0.582	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		17	69	0	0	0	0	17	69				
EVPL	2125	broad.mit.edu	37	17	74003878	74003878	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr17:74003878G>A	ENST00000301607.3	-	22	5661	c.5408C>T	c.(5407-5409)tCc>tTc	p.S1803F	EVPL_ENST00000586740.1_Missense_Mutation_p.S1825F|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1803	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGCCGGGGAGGCGAGCGG	0.602																																						uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(5407-5409)TCC>TTC		envoplakin							79.0	90.0	87.0					17																	74003878		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003878G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5408C>T	17.37:g.74003878G>A	ENSP00000301607:p.Ser1803Phe					EVPL_uc010wss.1_Missense_Mutation_p.S1825F|EVPL_uc010wst.1_Missense_Mutation_p.S1273F	p.S1803F	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	5636	-			1803			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5408C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217880	0.39201	.	.	ENSG00000167880	ENST00000301607	T	0.70164	-0.46	5.14	5.14	0.70334	.	0.236781	0.35320	N	0.003293	T	0.75932	0.3917	L	0.50333	1.59	0.34080	D	0.659493	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	T	0.78198	-0.2297	10	0.25751	T	0.34	-27.8539	18.5966	0.91231	0.0:0.0:1.0:0.0	.	1825;1803	B7ZLH8;Q92817	.;EVPL_HUMAN	F	1803	ENSP00000301607:S1803F	ENSP00000301607:S1803F	S	-	2	0	EVPL	71515473	0.630000	0.27155	0.950000	0.38849	0.174000	0.22865	3.194000	0.51005	2.379000	0.81126	0.549000	0.68633	TCC		0.602	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		23	64	0	0	0	0	23	64				
TNFRSF11A	8792	broad.mit.edu	37	18	60052041	60052041	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr18:60052041T>A	ENST00000586569.1	+	10	1663	c.1625T>A	c.(1624-1626)tTc>tAc	p.F542Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F225Y	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	542					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GTGATGAACTTCAAGGGCGAC	0.642																																						uc002lin.2		NA																	0				breast(2)|lung(1)	3						c.(1624-1626)TTC>TAC		tumor necrosis factor receptor superfamily,							44.0	35.0	38.0					18																	60052041		2203	4300	6503	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60052041T>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1625T>A	18.37:g.60052041T>A	ENSP00000465500:p.Phe542Tyr					TNFRSF11A_uc010dpv.2_Missense_Mutation_p.F225Y	p.F542Y	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			10	1663	+		Colorectal(73;0.188)	542			Cytoplasmic (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1625T>A	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	T	31	5.099769	0.94197	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	.	.	.	4.8	4.8	0.61643	.	1.405050	0.04965	U	0.462820	T	0.79707	0.4492	M	0.66939	2.045	0.38495	D	0.948084	D;D	0.69078	0.993;0.997	D;D	0.77004	0.984;0.989	T	0.65001	-0.6274	8	.	.	.	-22.776	12.9747	0.58531	0.0:0.0:0.0:1.0	.	247;542	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	Y	247;542	.	.	F	+	2	0	TNFRSF11A	58203021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.061000	0.76699	1.800000	0.52685	0.369000	0.22263	TTC		0.642	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			3	19	0	0	0	0	3	19				
CACTIN	58509	broad.mit.edu	37	19	3613204	3613204	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:3613204C>G	ENST00000429344.2	-	9	1690	c.1638G>C	c.(1636-1638)ctG>ctC	p.L546L	CACTIN_ENST00000248420.5_Silent_p.L546L|CACTIN_ENST00000221899.3_Silent_p.L478L|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	546					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTGCTGGATCAGGTCCTCCT	0.726																																						uc002lyh.2		NA																	0					0						c.(1636-1638)CTG>CTC		chromosome 19 open reading frame 29							35.0	41.0	39.0					19																	3613204		2143	4222	6365	SO:0001819	synonymous_variant	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3613204C>G	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1638G>C	19.37:g.3613204C>G						C19orf29_uc010xho.1_Silent_p.L5L|C19orf29_uc010dtn.2_Silent_p.L394L|C19orf29_uc002lyi.3_Silent_p.L546L|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	p.L546L	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1691	-		Hepatocellular(1079;0.137)	546					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.1638G>C	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284528	0.23392	.	.	ENSG00000226800	ENST00000447295	.	.	.	4.2	3.13	0.36017	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	5.3304	0.15930	0.2001:0.6923:0.0:0.1076	.	.	.	.	E	278	.	.	Q	+	1	0	C19orf29OS	3564204	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	2.591000	0.46163	2.179000	0.69175	0.561000	0.74099	CAG		0.726	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			11	32	0	0	0	0	11	32				
ADAMTS10	81794	broad.mit.edu	37	19	8657648	8657648	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:8657648C>T	ENST00000597188.1	-	13	1856	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E	ADAMTS10_ENST00000270328.4_Splice_Site_p.G529E|ADAMTS10_ENST00000595838.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	529	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						GGCGCTCACCCCCTTGTCGAT	0.682																																						uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(1585-1587)GGG>GAG		ADAM metallopeptidase with thrombospondin type 1							27.0	26.0	26.0					19																	8657648		2201	4295	6496	SO:0001630	splice_region_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8657648C>T	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.1587+1G>A	19.37:g.8657648C>T						ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G161E	p.G529E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			13	1860	-			529			Disintegrin.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1586G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708397	0.89018	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.67865	-0.29	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.60455	1.87	0.80722	D	1	P;P	0.42357	0.777;0.671	B;B	0.43575	0.424;0.27	T	0.73424	-0.3987	10	0.66056	D	0.02	.	17.8637	0.88790	0.0:1.0:0.0:0.0	.	283;529	Q59FE5;Q9H324	.;ATS10_HUMAN	E	529;283	ENSP00000270328:G529E	ENSP00000270328:G529E	G	-	2	0	ADAMTS10	8563648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.377000	0.79668	2.449000	0.82847	0.655000	0.94253	GGG		0.682	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	Missense_Mutation	5	20	0	0	0	0	5	20				
OR7D2	162998	broad.mit.edu	37	19	9296835	9296835	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:9296835C>G	ENST00000344248.2	+	1	557	c.378C>G	c.(376-378)gtC>gtG	p.V126V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	126					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGTGGCTGTCTGCCACCCTC	0.512																																						uc002mkz.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(376-378)GTC>GTG		olfactory receptor, family 7, subfamily D,							164.0	154.0	157.0					19																	9296835		2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296835C>G	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.378C>G	19.37:g.9296835C>G							p.V126V	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	566	+			126			Cytoplasmic (Potential).		Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.378C>G	CCDS32900.1																																																																																				0.512	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			43	152	0	0	0	0	43	152				
DNM2	1785	broad.mit.edu	37	19	10883279	10883279	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:10883279C>G	ENST00000355667.6	+	3	440	c.360C>G	c.(358-360)atC>atG	p.I120M	DNM2_ENST00000314646.5_Missense_Mutation_p.I120M|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Missense_Mutation_p.I120M|DNM2_ENST00000408974.4_Missense_Mutation_p.I120M|DNM2_ENST00000359692.6_Missense_Mutation_p.I120M|DNM2_ENST00000389253.4_Missense_Mutation_p.I120M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	120	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGTGCCCATCAACCTTCGAG	0.552			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(358-360)ATC>ATG		dynamin 2 isoform 2							101.0	70.0	81.0					19																	10883279		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10883279C>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.360C>G	19.37:g.10883279C>G	ENSP00000347890:p.Ile120Met					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120M|DNM2_uc002mpv.1_Missense_Mutation_p.I120M|DNM2_uc002mpu.1_Missense_Mutation_p.I120M|DNM2_uc010dxl.1_Missense_Mutation_p.I120M	p.I120M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	524	+			120					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.360C>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637215	0.67130	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	5.47	0.575	0.17374	Dynamin, GTPase domain (2);	0.069747	0.64402	D	0.000003	D	0.98182	0.9399	M	0.94142	3.5	0.50313	D	0.999869	D;P;D;P	0.89917	1.0;0.95;1.0;0.909	D;D;D;D	0.87578	0.998;0.983;0.997;0.912	D	0.95897	0.8912	10	0.72032	D	0.01	-16.4655	2.7855	0.05372	0.3228:0.3354:0.0:0.3418	.	120;120;120;120	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	M	109;120;120;120;120;120	ENSP00000386192:I120M;ENSP00000347890:I120M;ENSP00000352721:I120M;ENSP00000373905:I120M;ENSP00000313164:I120M	ENSP00000313164:I120M	I	+	3	3	DNM2	10744279	0.957000	0.32711	1.000000	0.80357	0.982000	0.71751	0.153000	0.16323	0.702000	0.31825	0.563000	0.77884	ATC		0.552	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		11	40	0	0	0	0	11	40				
MVB12A	93343	broad.mit.edu	37	19	17534558	17534558	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:17534558T>A	ENST00000317040.7	+	6	1645	c.590T>A	c.(589-591)cTg>cAg	p.L197Q	MVB12A_ENST00000529939.1_Missense_Mutation_p.L197Q|MVB12A_ENST00000543795.1_Missense_Mutation_p.L197Q|MVB12A_ENST00000528515.1_Missense_Mutation_p.C155S|MVB12A_ENST00000392702.2_Missense_Mutation_p.L157Q|CTD-2521M24.6_ENST00000593957.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	197	Interaction with TSG101, VPS37B and VPS28.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										GCATCCACTCTGCGGAGGAAT	0.602																																						uc002ngo.1		NA																	0					0						c.(589-591)CTG>CAG		family with sequence similarity 125, member A							54.0	52.0	53.0					19																	17534558		2203	4300	6503	SO:0001583	missense	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17534558T>A	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.590T>A	19.37:g.17534558T>A	ENSP00000324810:p.Leu197Gln					FAM125A_uc002ngp.1_Missense_Mutation_p.L105Q|FAM125A_uc002ngq.1_Missense_Mutation_p.L93Q	p.L197Q	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			6	623	+			197			Interaction with TSG101, VPS37B and VPS28.		Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	c.590T>A	CCDS12359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.74|16.74	3.207340|3.207340	0.58343|0.58343	.|.	.|.	ENSG00000141971|ENSG00000141971	ENST00000528515|ENST00000528911;ENST00000528604;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795	.|T;T;T;T;T;T	.|0.42513	.|0.97;0.97;0.97;0.97;0.97;0.97	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.515493	.|0.19673	.|N	.|0.108688	T|T	0.42607|0.42607	0.1210|0.1210	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	.|D	.|0.55385	.|0.971	.|P	.|0.55161	.|0.77	T|T	0.30909|0.30909	-0.9962|-0.9962	6|10	0.21540|0.52906	T|T	0.41|0.07	-2.5572|-2.5572	11.6805|11.6805	0.51455|0.51455	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|197	.|Q96EY5	.|F125A_HUMAN	S|Q	155|105;58;197;157;197;197	.|ENSP00000433280:L105Q;ENSP00000435052:L58Q;ENSP00000324810:L197Q;ENSP00000376466:L157Q;ENSP00000432526:L197Q;ENSP00000444653:L197Q	ENSP00000433677:C155S|ENSP00000324810:L197Q	C|L	+|+	1|2	0|0	FAM125A|FAM125A	17395558|17395558	0.113000|0.113000	0.22115|0.22115	0.028000|0.028000	0.17463|0.17463	0.157000|0.157000	0.22087|0.22087	4.053000|4.053000	0.57427|0.57427	2.007000|2.007000	0.58848|0.58848	0.456000|0.456000	0.33151|0.33151	TGC|CTG		0.602	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		13	58	0	0	0	0	13	58				
GDF15	9518	broad.mit.edu	37	19	18499466	18499466	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:18499466C>T	ENST00000252809.3	+	2	680	c.648C>T	c.(646-648)gtC>gtT	p.V216V	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	216					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGCACACGGTCCGCGCGTCGC	0.731											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002niv.2		NA																	0				central_nervous_system(1)	1						c.(646-648)GTC>GTT		growth differentiation factor 15							14.0	17.0	16.0					19																	18499466		2153	4244	6397	SO:0001819	synonymous_variant	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18499466C>T	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.648C>T	19.37:g.18499466C>T			OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.V216V	NM_004864	NP_004855	Q99988	GDF15_HUMAN			2	680	+			216					O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	c.648C>T	CCDS12376.1																																																																																				0.731	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		6	16	0	0	0	0	6	16				
CHST8	64377	broad.mit.edu	37	19	34263838	34263838	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:34263838G>A	ENST00000262622.4	+	4	1903	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	CHST8_ENST00000438847.3_Missense_Mutation_p.R382Q|CHST8_ENST00000434302.1_Missense_Mutation_p.R382Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	382					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAGGAGGCGCGGACCACAGCG	0.612																																						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1144-1146)CGG>CAG		carbohydrate (N-acetylgalactosamine 4-0)							50.0	50.0	50.0					19																	34263838		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263838G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1145G>A	19.37:g.34263838G>A	ENSP00000262622:p.Arg382Gln					CHST8_uc002nut.3_Missense_Mutation_p.R382Q|CHST8_uc002nuu.2_Missense_Mutation_p.R382Q	p.R382Q	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1650	+	Esophageal squamous(110;0.162)		382			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1145G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262161	0.80358	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74842	-0.88;-0.88;-0.88	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.87132	0.6101	M	0.82517	2.595	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.88197	0.2881	10	0.51188	T	0.08	-8.8387	17.2896	0.87152	0.0:0.0:1.0:0.0	.	382	Q9H2A9	CHST8_HUMAN	Q	382	ENSP00000392604:R382Q;ENSP00000393879:R382Q;ENSP00000262622:R382Q	ENSP00000262622:R382Q	R	+	2	0	CHST8	38955678	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.750000	0.98875	2.331000	0.79229	0.297000	0.19635	CGG		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		5	30	0	0	0	0	5	30				
RYR1	6261	broad.mit.edu	37	19	38997014	38997014	+	Silent	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:38997014G>T	ENST00000359596.3	+	55	8613	c.8613G>T	c.(8611-8613)ctG>ctT	p.L2871L	RYR1_ENST00000360985.3_Silent_p.L2871L|RYR1_ENST00000355481.4_Silent_p.L2871L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2871	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)	CCCGGGAGCTGCAGGTGAGAG	0.592																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(8611-8613)CTG>CTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						52.0	53.0	52.0					19																	38997014		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.chr19:38997014G>T	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.8613G>T	19.37:g.38997014G>T						RYR1_uc002oiu.2_Silent_p.L2871L|RYR1_uc002oiv.1_5'UTR	p.L2871L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		55	8743	+	all_cancers(60;7.91e-06)		2871			6 X approximate repeats.|Cytoplasmic.|6.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.8613G>T	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	30	1	0	0.00198382	0.0020521	7	30				
MED29	55588	broad.mit.edu	37	19	39879407	39879407	+	5'Flank	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879407C>G	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.M235I|PAF1_ENST00000221266.7_Missense_Mutation_p.M212I|PAF1_ENST00000221265.3_Missense_Mutation_p.M245I|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTACCTAATCATGGCCTGAG	0.547																																						uc002old.2		NA																	0				pancreas(1)	1						c.(733-735)ATG>ATC		Paf1, RNA polymerase II associated factor,							102.0	77.0	86.0					19																	39879407		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879407C>G	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879407C>G	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.M235I|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.M245I	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		9	910	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		245					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.735G>C		.	.	.	.	.	.	.	.	.	.	C	15.77	2.930668	0.52866	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.24	4.18	0.49190	.	0.040870	0.85682	N	0.000000	T	0.50922	0.1644	L	0.36672	1.1	0.58432	D	0.999996	P;P	0.40230	0.708;0.642	P;P	0.46144	0.455;0.505	T	0.41538	-0.9503	9	0.07813	T	0.8	-18.285	13.6852	0.62511	0.0:0.8437:0.1563:0.0	.	212;245	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	I	245;212;192	.	ENSP00000221265:M245I	M	-	3	0	PAF1	44571247	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.160000	0.77495	1.292000	0.44672	0.655000	0.94253	ATG		0.547	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		14	34	0	0	0	0	14	34				
MED29	55588	broad.mit.edu	37	19	39879807	39879807	+	5'Flank	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:39879807C>A	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Nonsense_Mutation_p.E155*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.E155*|PAF1_ENST00000221265.3_Nonsense_Mutation_p.E165*|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATTTCTTCCTCGGTAAACTGC	0.473																																						uc002old.2		NA																	0				pancreas(1)	1						c.(493-495)GAG>TAG		Paf1, RNA polymerase II associated factor,							129.0	131.0	131.0					19																	39879807		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879807C>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879807C>A	Exception_encountered					PAF1_uc002ole.1_Nonsense_Mutation_p.E155*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.E165*	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	668	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		165					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37	c.493G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.031225	0.98013	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-27.5501	16.5374	0.84376	0.0:1.0:0.0:0.0	.	.	.	.	X	165;155;112	.	ENSP00000221265:E165X	E	-	1	0	PAF1	44571647	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.155000	0.77445	2.767000	0.95098	0.563000	0.77884	GAG		0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		27	85	1	0	4.23e-11	4.64e-11	27	85				
AKT2	208	broad.mit.edu	37	19	40741810	40741810	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:40741810C>T	ENST00000392038.2	-	11	1460	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	AKT2_ENST00000579047.1_Missense_Mutation_p.D326N|AKT2_ENST00000311278.6_Missense_Mutation_p.D345N|AKT2_ENST00000424901.1_Missense_Mutation_p.D388N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCTTGGGGTCCTTCTTAAGC	0.682			A		"""ovarian, pancreatic """																																	uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		0				lung(2)	2						c.(1162-1164)GAC>AAC		AKT2 kinase							28.0	29.0	28.0					19																	40741810		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40741810C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1162G>A	19.37:g.40741810C>T	ENSP00000375892:p.Asp388Asn					AKT2_uc010egs.2_Missense_Mutation_p.D345N|AKT2_uc010egt.2_Missense_Mutation_p.D326N|AKT2_uc010xvj.1_Missense_Mutation_p.D326N|AKT2_uc010egu.1_Missense_Mutation_p.D326N|AKT2_uc002one.2_Missense_Mutation_p.D284N	p.D388N	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		11	1424	-			388			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.1162G>A	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839031	0.71373	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.69685	-0.42;-0.42;-0.42	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	N	0.21373	0.66	0.80722	D	1	B;B;B	0.27498	0.02;0.18;0.035	B;B;B	0.41813	0.067;0.367;0.097	T	0.61302	-0.7090	10	0.37606	T	0.19	.	18.757	0.91836	0.0:1.0:0.0:0.0	.	326;345;388	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	388;289;388;345;208	ENSP00000375892:D388N;ENSP00000399532:D388N;ENSP00000309428:D345N	ENSP00000309428:D345N	D	-	1	0	AKT2	45433650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.810000	0.86072	2.735000	0.93741	0.555000	0.69702	GAC		0.682	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		3	22	0	0	0	0	3	22				
PPP1R13L	10848	broad.mit.edu	37	19	45895566	45895566	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:45895566C>G	ENST00000418234.2	-	8	1465	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E463Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	463	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATCTCCGGCTCAGGCTCCAGC	0.642																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NA																	0				skin(1)	1						c.(1387-1389)GAG>CAG		protein phosphatase 1, regulatory subunit 13							23.0	27.0	26.0					19																	45895566		2183	4238	6421	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895566C>G	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1387G>C	19.37:g.45895566C>G	ENSP00000403902:p.Glu463Gln					PPP1R13L_uc002pbm.2_Missense_Mutation_p.E42Q|PPP1R13L_uc002pbo.2_Missense_Mutation_p.E463Q	p.E463Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1464	-		all_neural(266;0.224)|Ovarian(192;0.231)	463			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1387G>C	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870314	0.33069	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.59502	0.26;0.26	5.0	5.0	0.66597	.	0.373056	0.24393	N	0.038902	T	0.57286	0.2043	N	0.24115	0.695	0.33041	D	0.53144	D;D	0.61697	0.982;0.99	P;P	0.57204	0.778;0.815	T	0.65529	-0.6146	10	0.40728	T	0.16	.	14.2009	0.65705	0.0:1.0:0.0:0.0	.	463;42	Q8WUF5;A7YME7	IASPP_HUMAN;.	Q	463;463;37	ENSP00000403902:E463Q;ENSP00000354218:E463Q	ENSP00000221478:E37Q	E	-	1	0	PPP1R13L	50587406	0.997000	0.39634	0.914000	0.36105	0.478000	0.33099	4.603000	0.61105	2.492000	0.84095	0.555000	0.69702	GAG		0.642	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		6	35	0	0	0	0	6	35				
SULT2A1	6822	broad.mit.edu	37	19	48389471	48389471	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:48389471G>A	ENST00000222002.3	-	1	183	c.44C>T	c.(43-45)aCt>aTt	p.T15I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	GAAACCCATAGTAGGGAAAGC	0.443																																						uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(43-45)ACT>ATT		bile-salt sulfotransferase 2A1							219.0	184.0	196.0					19																	48389471		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48389471G>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.44C>T	19.37:g.48389471G>A	ENSP00000222002:p.Thr15Ile						p.T15I	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	1	184	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	15						Missense_Mutation	SNP	ENST00000222002.3	37	c.44C>T	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	1.135	-0.651331	0.03506	.	.	ENSG00000105398	ENST00000222002	T	0.01725	4.67	3.85	-7.7	0.01259	.	29.258700	0.00465	N	0.000119	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.36915	-0.9728	10	0.38643	T	0.18	.	1.0141	0.01503	0.2607:0.2289:0.3358:0.1746	.	15	Q06520	ST2A1_HUMAN	I	15	ENSP00000222002:T15I	ENSP00000222002:T15I	T	-	2	0	SULT2A1	53081283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.564000	0.00429	-5.013000	0.00024	-2.254000	0.00282	ACT		0.443	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		6	124	0	0	0	0	6	124				
FLT3LG	2323	broad.mit.edu	37	19	49979010	49979010	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:49979010C>G	ENST00000594009.1	+	2	175	c.96C>G	c.(94-96)ttC>ttG	p.F32L	FLT3LG_ENST00000600429.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000344019.3_Missense_Mutation_p.F32L|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000596435.1_Missense_Mutation_p.F32L|FLT3LG_ENST00000595510.1_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	32					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACTGCTCCTTCCAACACAGCC	0.642																																						uc010yau.1		NA																	0					0						c.(94-96)TTC>TTG		fms-related tyrosine kinase 3 ligand precursor							94.0	74.0	81.0					19																	49979010		2203	4300	6503	SO:0001583	missense	2323				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49979010C>G	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.96C>G	19.37:g.49979010C>G	ENSP00000469613:p.Phe32Leu					FLT3LG_uc002pnv.2_5'UTR|FLT3LG_uc002pnw.2_5'UTR|FLT3LG_uc002pnu.2_Missense_Mutation_p.F32L|FLT3LG_uc002pnx.2_Missense_Mutation_p.F32L|FLT3LG_uc010yav.1_5'UTR	p.F32L	NM_001459	NP_001450	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	3	186	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	32			Extracellular (Potential).		A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.96C>G	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.143933	0.77888	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.25	4.25	0.50352	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.372260	0.23316	U	0.049508	T	0.56499	0.1989	L	0.34521	1.04	0.30164	N	0.801891	D	0.76494	0.999	D	0.83275	0.996	T	0.57551	-0.7792	9	0.87932	D	0	-14.9541	12.5557	0.56252	0.0:1.0:0.0:0.0	.	32	P49771	FLT3L_HUMAN	L	32	.	ENSP00000204637:F32L	F	+	3	2	FLT3LG	54670822	0.741000	0.28217	0.914000	0.36105	0.700000	0.40528	1.313000	0.33585	2.102000	0.63906	0.544000	0.68410	TTC		0.642	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			13	41	0	0	0	0	13	41				
ZNF610	162963	broad.mit.edu	37	19	52869339	52869339	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:52869339A>G	ENST00000403906.3	+	6	1164	c.708A>G	c.(706-708)gaA>gaG	p.E236E	ZNF610_ENST00000601151.1_Silent_p.E193E|ZNF610_ENST00000321287.8_Silent_p.E236E|ZNF610_ENST00000327920.8_Silent_p.E236E	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	236					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(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATGTACTGAATGTGGCAAGG	0.388																																						uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(706-708)GAA>GAG		zinc finger protein 610 isoform a							67.0	66.0	67.0					19																	52869339		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869339A>G	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.708A>G	19.37:g.52869339A>G						ZNF610_uc002pyy.3_Silent_p.E236E|ZNF610_uc002pyz.3_Silent_p.E193E|ZNF610_uc002pza.2_Silent_p.E236E	p.E236E	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	1114	+			236			C2H2-type 2.		A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.708A>G	CCDS12851.1																																																																																				0.388	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		10	31	0	0	0	0	10	31				
ZNF321P	399669	broad.mit.edu	37	19	53432295	53432295	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:53432295G>C	ENST00000391777.3	-	4	684	c.563C>G	c.(562-564)tCc>tGc	p.S188C	ZNF816_ENST00000434371.2_Missense_Mutation_p.S188C|ZNF816_ENST00000549216.1_Missense_Mutation_p.S119C|ZNF816-ZNF321P_ENST00000313956.4_RNA			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	119										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CAAAATTAAGGAGGCATTGAT	0.378																																						uc010eqj.2		NA																	0					0						c.(514-516)TCC>TGC		zinc finger protein 321							104.0	110.0	108.0					19																	53432295		2199	4298	6497	SO:0001583	missense	399669							g.chr19:53432295G>C	AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.563C>G	19.37:g.53432295G>C	ENSP00000375656:p.Ser188Cys					ZNF321_uc002qaj.1_Missense_Mutation_p.S119C|ZNF321_uc002qak.1_Missense_Mutation_p.S172C	p.S172C	NM_203307	NP_976052				GBM - Glioblastoma multiforme(134;0.0305)	4	685	-								B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	c.515C>G	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	g	8.245	0.807778	0.16467	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.03272	3.99;5.48;5.48	1.78	-3.57	0.04612	.	.	.	.	.	T	0.10294	0.0252	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.04400	-1.0954	9	0.66056	D	0.02	.	3.9347	0.09301	0.2821:0.3744:0.3435:0.0	.	119	Q8N8H1	ZN321_HUMAN	C	119;188;188	ENSP00000449832:S119C;ENSP00000438519:S188C;ENSP00000375656:S188C	ENSP00000375656:S188C	S	-	2	0	ZNF321P;ZNF816	58124107	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-2.077000	0.00874	0.134000	0.15878	TCC		0.378	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805		25	105	0	0	0	0	25	105				
NLRP8	126205	broad.mit.edu	37	19	56466905	56466905	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:56466905G>A	ENST00000291971.3	+	3	1552	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R494Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTATTCTTCGGAGAATTGCA	0.468																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1480-1482)CGG>CAG		NLR family, pyrin domain containing 8							175.0	162.0	166.0					19																	56466905		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466905G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1481G>A	19.37:g.56466905G>A	ENSP00000291971:p.Arg494Gln					NLRP8_uc010etg.2_Missense_Mutation_p.R494Q	p.R494Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1552	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	494			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1481G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.460246	0.01062	.	.	ENSG00000179709	ENST00000291971	D	0.84516	-1.86	2.04	-3.13	0.05266	.	.	.	.	.	T	0.60117	0.2244	N	0.12746	0.255	0.09310	N	1	P;B	0.40083	0.702;0.207	B;B	0.26864	0.074;0.02	T	0.56709	-0.7934	9	0.13108	T	0.6	.	6.6736	0.23082	0.6605:0.0:0.3395:0.0	.	494;494	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	494	ENSP00000291971:R494Q	ENSP00000291971:R494Q	R	+	2	0	NLRP8	61158717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.301000	0.08232	-0.798000	0.04444	0.514000	0.50259	CGG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		30	107	0	0	0	0	30	107				
ZNF550	162972	broad.mit.edu	37	19	58067717	58067717	+	Silent	SNP	C	C	T	rs369508910		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr19:58067717C>T	ENST00000457177.1	-	2	216	c.36G>A	c.(34-36)gtG>gtA	p.V12V	ZNF549_ENST00000602149.1_3'UTR|ZNF550_ENST00000601415.1_Silent_p.V12V|ZNF550_ENST00000506609.2_Silent_p.V3V|ZNF550_ENST00000325134.5_Silent_p.V12V			Q7Z398	ZN550_HUMAN	zinc finger protein 550	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGAAGGTCACCAACATCT	0.522																																						uc002qpe.1		NA																	0					0						c.(7-9)GTG>GTA		zinc finger protein 550		C		0,4406		0,0,2203	135.0	128.0	130.0		9	2.1	0.3	19		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF550	NM_001039654.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3/382	58067717	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58067717C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.36G>A	19.37:g.58067717C>T						ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_3'UTR|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.V3V	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	1	9	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	12			KRAB.		B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	37	c.9G>A																																																																																					0.522	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		22	108	0	0	0	0	22	108				
HPCAL1	3241	broad.mit.edu	37	2	10560208	10560208	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:10560208G>A	ENST00000381765.3	+	4	851	c.325G>A	c.(325-327)Gac>Aac	p.D109N	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D109N	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	109	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CAGCATGTACGACCTGGACGG	0.667																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.2		NA																	0				pancreas(1)	1						c.(325-327)GAC>AAC		hippocalcin-like 1							67.0	60.0	63.0					2																	10560208		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10560208G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.325G>A	2.37:g.10560208G>A	ENSP00000371184:p.Asp109Asn					HPCAL1_uc002rak.2_Missense_Mutation_p.D109N|HPCAL1_uc002ral.2_Missense_Mutation_p.D109N|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.D109N	p.D109N	NM_002149	NP_002140	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	3	699	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		109			EF-hand 3.|2 (Potential).		Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.325G>A	CCDS1671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.537800|5.537800	0.96460|0.96460	.|.	.|.	ENSG00000115756|ENSG00000115756	ENST00000307845;ENST00000381765|ENST00000422133	D;D|.	0.95821|.	-3.82;-3.82|.	4.95|4.95	4.95|4.95	0.65309|0.65309	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88676|0.88676	0.6501|0.6501	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93013|0.93013	0.6433|0.6433	10|5	0.87932|.	D|.	0|.	.|.	18.1814|18.1814	0.89779|0.89779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	109|.	P37235|.	HPCL1_HUMAN|.	N|Q	109|21	ENSP00000310749:D109N;ENSP00000371184:D109N|.	ENSP00000310749:D109N|.	D|R	+|+	1|2	0|0	HPCAL1|HPCAL1	10477659|10477659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.799000|9.799000	0.99117|0.99117	2.282000|2.282000	0.76494|0.76494	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.667	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		13	46	0	0	0	0	13	46				
BIRC6	57448	broad.mit.edu	37	2	32733227	32733227	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:32733227C>G	ENST00000421745.2	+	51	10015	c.9881C>G	c.(9880-9882)tCa>tGa	p.S3294*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3294					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTAGGCCTTTCACAAATTAAA	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9880-9882)TCA>TGA		baculoviral IAP repeat-containing 6							77.0	72.0	74.0					2																	32733227		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32733227C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9881C>G	2.37:g.32733227C>G	ENSP00000393596:p.Ser3294*						p.S3294*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			51	10015	+	Acute lymphoblastic leukemia(172;0.155)		3294					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.9881C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	52	19.292282	0.99917	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	3294	.	ENSP00000393596:S3294X	S	+	2	0	BIRC6	32586731	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.784000	0.85713	2.736000	0.93811	0.655000	0.94253	TCA		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		4	36	0	0	0	0	4	36				
HEATR5B	54497	broad.mit.edu	37	2	37227876	37227876	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37227876G>C	ENST00000233099.5	-	33	5493	c.5398C>G	c.(5398-5400)Cag>Gag	p.Q1800E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1711E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1800						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGAGGAACCTGATTATCTGCA	0.408																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(5398-5400)CAG>GAG		HEAT repeat containing 5B							130.0	138.0	135.0					2																	37227876		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37227876G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5398C>G	2.37:g.37227876G>C	ENSP00000233099:p.Gln1800Glu					HEATR5B_uc002rpo.1_Missense_Mutation_p.Q113E|HEATR5B_uc010ezy.1_Missense_Mutation_p.Q295E	p.Q1800E	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			33	5494	-		all_hematologic(82;0.21)	1800					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5398C>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928630	0.18131	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.62498	0.02;0.02	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.267697	0.39985	N	0.001207	T	0.43411	0.1246	N	0.14661	0.345	0.24371	N	0.994836	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11446	-1.0587	10	0.02654	T	1	-2.7904	18.6774	0.91534	0.0:0.0:1.0:0.0	.	1800;1800	Q9P2D3;B9EK47	HTR5B_HUMAN;.	E	1800;1711	ENSP00000233099:Q1800E;ENSP00000346531:Q1711E	ENSP00000233099:Q1800E	Q	-	1	0	HEATR5B	37081380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.143000	0.71756	2.409000	0.81822	0.591000	0.81541	CAG		0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		21	54	0	0	0	0	21	54				
CEBPZ	10153	broad.mit.edu	37	2	37443509	37443509	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:37443509C>G	ENST00000234170.5	-	7	2406	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	754					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCCAAAAATCTCATTAGAGT	0.338																																						uc002rpz.2		NA																	0				pancreas(1)	1						c.(2260-2262)AGA>ACA		CCAAT/enhancer binding protein zeta							63.0	72.0	69.0					2																	37443509		2202	4296	6498	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37443509C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2261G>C	2.37:g.37443509C>G	ENSP00000234170:p.Arg754Thr						p.R754T	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			7	2291	-		all_hematologic(82;0.21)	754					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2261G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752513	0.89753	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.15487	2.42	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	M	0.86740	2.835	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	T	0.58132	-0.7690	10	0.87932	D	0	.	19.1602	0.93527	0.0:1.0:0.0:0.0	.	754	Q03701	CEBPZ_HUMAN	T	754	ENSP00000234170:R754T	ENSP00000234170:R754T	R	-	2	0	CEBPZ	37297013	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.305000	0.78891	2.525000	0.85131	0.650000	0.86243	AGA		0.338	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		26	85	0	0	0	0	26	85				
KCNG3	170850	broad.mit.edu	37	2	42671137	42671137	+	Silent	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:42671137A>G	ENST00000306078.1	-	2	1843	c.1248T>C	c.(1246-1248)taT>taC	p.Y416Y	KCNG3_ENST00000394973.4_Silent_p.Y405Y	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	416					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGAGCTCATGATAACACTGCA	0.388																																						uc002rsn.2		NA																	0				central_nervous_system(1)	1						c.(1246-1248)TAT>TAC		potassium voltage-gated channel, subfamily G,							120.0	117.0	118.0					2																	42671137		2203	4300	6503	SO:0001819	synonymous_variant	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671137A>G	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.1248T>C	2.37:g.42671137A>G						KCNG3_uc002rsm.2_Silent_p.Y405Y	p.Y416Y	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN			2	1844	-			416			Cytoplasmic (Potential).		Q53SC1	Silent	SNP	ENST00000306078.1	37	c.1248T>C	CCDS1809.1																																																																																				0.388	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		16	61	0	0	0	0	16	61				
CD8A	925	broad.mit.edu	37	2	87013059	87013059	+	Missense_Mutation	SNP	G	G	A	rs200563616		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:87013059G>A	ENST00000409511.2	-	9	1722	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CD8A_ENST00000538832.1_Missense_Mutation_p.S272L|CD8A_ENST00000352580.3_Missense_Mutation_p.S194L|CD8A_ENST00000283635.3_Missense_Mutation_p.S231L|CD8A_ENST00000456996.2_Missense_Mutation_p.S194L|CD8A_ENST00000409781.1_Missense_Mutation_p.S194L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	231					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GTATCTCGCCGAAAGGCTGGG	0.512																																						uc002srt.2		NA																	0				ovary(1)	1						c.(691-693)TCG>TTG		CD8 antigen alpha polypeptide isoform 1		G	LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	184.0	180.0	182.0		692,692,581	3.1	0.0	2		182	0,8600		0,0,4300	no	missense,missense,missense	CD8A	NM_001145873.1,NM_001768.6,NM_171827.3	145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	231/236,231/236,194/199	87013059	1,13005	2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013059G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.692C>T	2.37:g.87013059G>A	ENSP00000386559:p.Ser231Leu					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.S231L|CD8A_uc010ytn.1_Missense_Mutation_p.S272L|CD8A_uc002sru.2_Missense_Mutation_p.S194L	p.S231L	NM_001768	NP_001759	P01732	CD8A_HUMAN			6	1581	-			231			Cytoplasmic (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.692C>T	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081972	0.55861	2.27E-4	0.0	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	D;D;T;T;T;T	0.84944	-1.92;-1.92;-1.34;-1.34;-1.42;-1.29	4.03	3.14	0.36123	.	0.795716	0.11735	N	0.534533	D	0.91112	0.7202	M	0.78916	2.43	0.09310	N	1	D;D;D	0.89917	0.982;0.989;1.0	B;P;D	0.78314	0.285;0.579;0.991	T	0.80322	-0.1431	10	0.66056	D	0.02	-2.8616	9.1428	0.36914	0.0:0.0:0.7828:0.2172	.	272;194;231	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	L	194;194;231;231;216;272;194	ENSP00000398868:S194L;ENSP00000321631:S194L;ENSP00000283635:S231L;ENSP00000386559:S231L;ENSP00000438371:S272L;ENSP00000387314:S194L	ENSP00000283635:S231L	S	-	2	0	CD8A	86866570	0.236000	0.23804	0.005000	0.12908	0.007000	0.05969	3.606000	0.54095	1.256000	0.44068	0.655000	0.94253	TCG		0.512	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		40	132	0	0	0	0	40	132				
LRP1B	53353	broad.mit.edu	37	2	141356336	141356336	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:141356336T>A	ENST00000389484.3	-	43	8029	c.7058A>T	c.(7057-7059)aAt>aTt	p.N2353I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTGAGCATTTTTCCCAGT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7057-7059)AAT>ATT		low density lipoprotein-related protein 1B							165.0	137.0	146.0					2																	141356336		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141356336T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7058A>T	2.37:g.141356336T>A	ENSP00000374135:p.Asn2353Ile	TSP Lung(27;0.18)					p.N2353I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	43	8030	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2353			Extracellular (Potential).|LDL-receptor class B 25.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7058A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543458	0.86022	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96396	-4.0	5.75	4.61	0.57282	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	H	0.94503	3.545	0.52099	D	0.999946	D	0.69078	0.997	P	0.62740	0.906	D	0.98252	1.0494	10	0.48119	T	0.1	.	11.198	0.48724	0.0:0.0713:0.0:0.9287	.	2353	Q9NZR2	LRP1B_HUMAN	I	2353;2291	ENSP00000374135:N2353I	ENSP00000374135:N2353I	N	-	2	0	LRP1B	141072806	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.201000	0.72124	2.203000	0.70933	0.377000	0.23210	AAT		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	31	0	0	0	0	9	31				
NMI	9111	broad.mit.edu	37	2	152135393	152135393	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:152135393G>A	ENST00000243346.5	-	4	759	c.289C>T	c.(289-291)Cct>Tct	p.P97S		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	97					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ATCTCATAAGGAACTTTCGAG	0.343																																						uc002txi.2		NA																	0					0						c.(289-291)CCT>TCT		N-myc and STAT interactor							102.0	98.0	100.0					2																	152135393		2203	4299	6502	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152135393G>A	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.289C>T	2.37:g.152135393G>A	ENSP00000243346:p.Pro97Ser					NMI_uc010zbx.1_Missense_Mutation_p.P97S|NMI_uc002txj.2_Missense_Mutation_p.P65S	p.P97S	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	4	619	-			97					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.289C>T	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.231943	0.01505	.	.	ENSG00000123609	ENST00000243346	T	0.28895	1.59	5.4	-0.111	0.13576	Nucleotide-binding, alpha-beta plait (1);Interferon induced 35kDa, N-terminal (1);	1.305070	0.04870	N	0.445714	T	0.21468	0.0517	L	0.39898	1.24	0.09310	N	1	B;B	0.20052	0.041;0.002	B;B	0.16722	0.016;0.008	T	0.18745	-1.0327	10	0.20046	T	0.44	0.2592	2.0299	0.03527	0.2639:0.1457:0.4578:0.1326	.	97;97	B4DQD4;Q13287	.;NMI_HUMAN	S	97	ENSP00000243346:P97S	ENSP00000243346:P97S	P	-	1	0	NMI	151843639	0.200000	0.23398	0.002000	0.10522	0.312000	0.27988	0.541000	0.23207	0.014000	0.14944	-0.293000	0.09583	CCT		0.343	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		5	26	0	0	0	0	5	26				
IFIH1	64135	broad.mit.edu	37	2	163167287	163167287	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:163167287C>G	ENST00000263642.2	-	2	1005	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	IFIH1_ENST00000421365.2_Missense_Mutation_p.E204Q	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	204					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATTGCTTTCTGAGCAATCA	0.373																																						uc002uce.2		NA																	0				ovary(1)	1						c.(610-612)GAA>CAA		interferon induced with helicase C domain 1							71.0	67.0	68.0					2																	163167287		2201	4300	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163167287C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.610G>C	2.37:g.163167287C>G	ENSP00000263642:p.Glu204Gln					IFIH1_uc002ucf.2_Missense_Mutation_p.E204Q	p.E204Q	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			2	832	-			204					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.610G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947028	0.92593	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	T	0.05382	3.45	5.81	4.93	0.64822	.	0.455087	0.22687	N	0.056870	T	0.17066	0.0410	M	0.65975	2.015	0.09310	N	1	D;B	0.63046	0.992;0.242	P;B	0.56865	0.808;0.116	T	0.06625	-1.0816	10	0.33940	T	0.23	-6.9021	12.7872	0.57512	0.0:0.9208:0.0:0.0791	.	204;204	Q9BYX4-2;Q9BYX4	.;IFIH1_HUMAN	Q	204	ENSP00000263642:E204Q	ENSP00000263642:E204Q	E	-	1	0	IFIH1	162875533	0.156000	0.22821	0.004000	0.12327	0.995000	0.86356	1.234000	0.32660	1.464000	0.47987	0.650000	0.86243	GAA		0.373	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		12	24	0	0	0	0	12	24				
WIPF1	7456	broad.mit.edu	37	2	175446073	175446073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:175446073G>A	ENST00000392547.2	-	3	245	c.146C>T	c.(145-147)aCg>aTg	p.T49M	WIPF1_ENST00000272746.5_Missense_Mutation_p.T49M|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T49M|WIPF1_ENST00000392546.2_Missense_Mutation_p.T49M|WIPF1_ENST00000410117.1_Missense_Mutation_p.T49M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T49M|WIPF1_ENST00000409415.3_Missense_Mutation_p.T49M|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	49	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.T49M(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATTGGTGACCGTCTTCTTTAG	0.433																																						uc002uiy.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(145-147)ACG>ATG		WAS/WASL interacting protein family, member 1							422.0	389.0	400.0					2																	175446073		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175446073G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.146C>T	2.37:g.175446073G>A	ENSP00000376330:p.Thr49Met					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T49M|WIPF1_uc010fqt.1_Missense_Mutation_p.T49M|WIPF1_uc002ujc.1_Missense_Mutation_p.T49M|WIPF1_uc002uiz.2_Missense_Mutation_p.T49M|WIPF1_uc002ujb.1_Missense_Mutation_p.T49M|WIPF1_uc010zep.1_Missense_Mutation_p.T49M	p.T49M	NM_003387	NP_003378	O43516	WIPF1_HUMAN			4	478	-			49			WH2.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.146C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749568	0.89753	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.76	5.76	0.90799	Actin-binding WH2 (2);	0.232963	0.44483	D	0.000459	T	0.78136	0.4236	M	0.89287	3.02	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.69824	0.917;0.966;0.942;0.919	T	0.81607	-0.0856	10	0.87932	D	0	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	49;49;49;49	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	M	49	ENSP00000376330:T49M;ENSP00000272746:T49M;ENSP00000352802:T49M;ENSP00000376329:T49M;ENSP00000386431:T49M;ENSP00000387150:T49M;ENSP00000391785:T49M;ENSP00000386757:T49M;ENSP00000388454:T49M	ENSP00000272746:T49M	T	-	2	0	WIPF1	175154319	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	8.973000	0.93428	2.736000	0.93811	0.655000	0.94253	ACG		0.433	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		65	238	0	0	0	0	65	238				
TTN	7273	broad.mit.edu	37	2	179418418	179418418	+	Missense_Mutation	SNP	C	C	G	rs200503016		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:179418418C>G	ENST00000591111.1	-	284	84615	c.84391G>C	c.(84391-84393)Gag>Cag	p.E28131Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E29772Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20832Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27204Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20707Q|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20899Q|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28131	Fibronectin type-III 105. {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)			TGTCTTATCTCGACAACATAC	0.463																																						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.(81610-81612)GAG>CAG		titin isoform N2-A							95.0	91.0	92.0					2																	179418418		2008	4175	6183	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418418C>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.84391G>C	2.37:g.179418418C>G	ENSP00000465570:p.Glu28131Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20899Q|TTN_uc010zfi.1_Missense_Mutation_p.E20832Q|TTN_uc010zfj.1_Missense_Mutation_p.E20707Q	p.E27204Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		283	81834	-			28131					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.81610G>C		.	.	.	.	.	.	.	.	.	.	C	13.06	2.122919	0.37436	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.6	4.71	0.59529	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46054	0.1373	L	0.35414	1.06	0.51012	D	0.9999	B;B;B;B	0.14438	0.002;0.002;0.002;0.01	B;B;B;B	0.20767	0.01;0.01;0.018;0.031	T	0.42882	-0.9425	9	0.87932	D	0	.	16.4001	0.83637	0.0:0.8576:0.1424:0.0	.	20707;20832;20899;28131	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	27204;20707;20899;20832;20704	ENSP00000343764:E27204Q;ENSP00000434586:E20707Q;ENSP00000340554:E20899Q;ENSP00000352154:E20832Q	ENSP00000340554:E20899Q	E	-	1	0	TTN	179126664	1.000000	0.71417	0.069000	0.20011	0.211000	0.24417	6.088000	0.71371	1.463000	0.47967	0.650000	0.86243	GAG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	62	0	0	0	0	11	62				
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:182347350G>T	ENST00000397033.2	+	9	1443	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	338					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.R338I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAGGAAGGAAGAGTGTTTGTG	0.473																																						uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1012-1014)AGA>ATA		integrin alpha 4 precursor	Natalizumab(DB00108)						141.0	139.0	140.0					2																	182347350		1991	4168	6159	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347350G>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1013G>T	2.37:g.182347350G>T	ENSP00000380227:p.Arg338Ile					ITGA4_uc010zfl.1_Missense_Mutation_p.R338I	p.R338I	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1776	+			338			FG-GAP 5.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1013G>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299329	0.81136	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11063	2.81;2.81	5.81	4.93	0.64822	.	0.045107	0.85682	D	0.000000	T	0.36799	0.0980	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.34750	-0.9816	10	0.87932	D	0	.	16.4308	0.83841	0.0:0.0:0.8676:0.1324	.	338;338	E7EP60;P13612	.;ITA4_HUMAN	I	338	ENSP00000380227:R338I;ENSP00000233573:R338I	ENSP00000233573:R338I	R	+	2	0	ITGA4	182055595	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.444000	0.66587	1.445000	0.47624	0.650000	0.86243	AGA		0.473	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			34	130	1	0	1.36e-07	1.47e-07	34	130				
SPEG	10290	broad.mit.edu	37	2	220334043	220334043	+	Silent	SNP	C	C	T	rs561711337		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220334043C>T	ENST00000312358.7	+	13	3789	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1219	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCACCATCAGCTGGTTCC	0.642																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3655-3657)ATC>ATT		SPEG complex locus							46.0	56.0	52.0					2																	220334043		2164	4258	6422	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334043C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3657C>T	2.37:g.220334043C>T							p.I1219I	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	13	3657	+		Renal(207;0.0183)	1219			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3657C>T	CCDS42824.1																																																																																				0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	23	0	0	0	0	4	23				
SPEG	10290	broad.mit.edu	37	2	220336980	220336980	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:220336980G>A	ENST00000312358.7	+	15	3999	c.3867G>A	c.(3865-3867)ccG>ccA	p.P1289P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1289	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGCGCCCCGCAGGTGGTGG	0.647																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3865-3867)CCG>CCA		SPEG complex locus							51.0	55.0	54.0					2																	220336980		1956	4148	6104	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220336980G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3867G>A	2.37:g.220336980G>A							p.P1289P	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	15	3867	+		Renal(207;0.0183)	1289			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3867G>A	CCDS42824.1																																																																																				0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		12	62	0	0	0	0	12	62				
UGT1A1	54658	broad.mit.edu	37	2	234526661	234526661	+	Missense_Mutation	SNP	G	G	A	rs374980275		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:234526661G>A	ENST00000373450.4	+	1	371	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	110					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GCACAAGTACGAAGTTTGTTT	0.383																																						uc002vup.2		NA																	0				ovary(2)	2						c.(307-309)CGA>CAA		UDP glycosyltransferase 1 family, polypeptide A8		A	GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	129.0	131.0	131.0		308	-4.7	0.0	2		131	0,8600		0,0,4300	no	missense	UGT1A8	NM_019076.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		103/531	234526661	1,13005	2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526661G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.308G>A	2.37:g.234526661G>A	ENSP00000362549:p.Arg103Gln					UGT1A8_uc010zmv.1_Missense_Mutation_p.R103Q	p.R103Q	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	371	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	103					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.308G>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	3.097	-0.185663	0.06340	2.27E-4	0.0	ENSG00000242366	ENST00000373450	T	0.59502	0.26	3.96	-4.66	0.03329	.	.	.	.	.	T	0.28830	0.0715	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16719	-1.0393	9	0.18276	T	0.48	.	0.5939	0.00733	0.3386:0.1082:0.2136:0.3396	.	103;103	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	Q	103	ENSP00000362549:R103Q	ENSP00000362549:R103Q	R	+	2	0	UGT1A8	234191400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.060000	0.00624	-1.621000	0.01562	-2.783000	0.00117	CGA		0.383	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			35	94	0	0	0	0	35	94				
SH3BP4	23677	broad.mit.edu	37	2	235949874	235949874	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:235949874G>A	ENST00000409212.1	+	4	968	c.461G>A	c.(460-462)aGa>aAa	p.R154K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R154K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R154K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	154					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTACCAGGCAGAATGTACAGT	0.512																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(460-462)AGA>AAA		SH3-domain binding protein 4							98.0	101.0	100.0					2																	235949874		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949874G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.461G>A	2.37:g.235949874G>A	ENSP00000386862:p.Arg154Lys					SH3BP4_uc010fym.2_Missense_Mutation_p.R154K|SH3BP4_uc002vvq.2_Missense_Mutation_p.R154K	p.R154K	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	854	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	154					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.461G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	5.458	0.269649	0.10349	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.23754	3.08;3.08;3.08;1.89	5.59	-0.919	0.10478	.	0.949175	0.08917	N	0.874916	T	0.07999	0.0200	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36359	-0.9751	10	0.02654	T	1	-19.53	9.6546	0.39919	0.5866:0.0:0.4134:0.0	.	154;154	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	154	ENSP00000375867:R154K;ENSP00000386862:R154K;ENSP00000340237:R154K;ENSP00000415391:R154K	ENSP00000340237:R154K	R	+	2	0	SH3BP4	235614613	0.457000	0.25752	0.000000	0.03702	0.200000	0.23975	0.783000	0.26802	-0.417000	0.07461	0.655000	0.94253	AGA		0.512	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			16	68	0	0	0	0	16	68				
ANKMY1	51281	broad.mit.edu	37	2	241463486	241463486	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241463486G>C	ENST00000272972.3	-	7	1595	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	ANKMY1_ENST00000391987.1_Missense_Mutation_p.L461V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.L320V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L231V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.L320V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L320V|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405002.1_Missense_Mutation_p.L231V|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Missense_Mutation_p.L399V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.L273V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L550V	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	461							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTGCACAGACTGCCCCGG	0.597																																						uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(1381-1383)CTG>GTG		ankyrin repeat and MYND domain containing 1							127.0	113.0	118.0					2																	241463486		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241463486G>C	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1381C>G	2.37:g.241463486G>C	ENSP00000272972:p.Leu461Val					ANKMY1_uc002vza.1_Missense_Mutation_p.L320V|ANKMY1_uc010fzd.1_Missense_Mutation_p.L550V|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.L320V|ANKMY1_uc002vzd.1_Missense_Mutation_p.L320V|ANKMY1_uc010fze.1_Missense_Mutation_p.L130V|ANKMY1_uc002vze.2_Missense_Mutation_p.L222V	p.L461V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1610	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	461					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.1381C>G	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414787	0.11870	.	.	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.55930	2.91;0.5;2.22;0.5;4.37;2.46;0.49;2.16;2.19;2.44	4.06	0.0893	0.14458	Ankyrin repeat-containing domain (1);	1.856290	0.03198	N	0.174290	T	0.35364	0.0929	L	0.27053	0.805	0.09310	N	1	B;B;P;B;P;B	0.45715	0.146;0.206;0.458;0.063;0.865;0.146	B;B;B;B;B;B	0.41135	0.038;0.058;0.137;0.026;0.348;0.038	T	0.15093	-1.0449	10	0.14252	T	0.57	-23.9861	2.2071	0.03938	0.1089:0.1679:0.4416:0.2816	.	461;273;231;320;320;461	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	V	320;461;320;461;231;399;550;273;320;231	ENSP00000362415:L320V;ENSP00000272972:L461V;ENSP00000355097:L320V;ENSP00000375847:L461V;ENSP00000362417:L231V;ENSP00000383968:L399V;ENSP00000385887:L550V;ENSP00000444707:L273V;ENSP00000385635:L320V;ENSP00000385145:L231V	ENSP00000272972:L461V	L	-	1	2	ANKMY1	241112159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.286000	0.18902	-0.104000	0.12154	0.491000	0.48974	CTG		0.597	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		16	69	0	0	0	0	16	69				
KIF1A	547	broad.mit.edu	37	2	241702193	241702193	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr2:241702193T>A	ENST00000320389.7	-	22	2190	c.2032A>T	c.(2032-2034)Atg>Ttg	p.M678L	KIF1A_ENST00000498729.2_Missense_Mutation_p.M687L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	678					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGAGTCCATCTGCTTCTGC	0.622																																						uc002vzy.2		NA																	0				lung(1)	1						c.(2032-2034)ATG>TTG		axonal transport of synaptic vesicles							42.0	45.0	44.0					2																	241702193		2106	4220	6326	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702193T>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2032A>T	2.37:g.241702193T>A	ENSP00000322791:p.Met678Leu					KIF1A_uc010fzk.2_Missense_Mutation_p.M687L|KIF1A_uc002vzz.1_Missense_Mutation_p.M687L	p.M678L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	22	2178	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	678			Potential.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2032A>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869019	0.51588	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.70045	-0.45;-0.45;-0.45	4.4	3.25	0.37280	.	0.186359	0.45126	U	0.000388	T	0.41743	0.1172	N	0.04787	-0.16	0.38480	D	0.947683	B;B;B	0.19583	0.003;0.037;0.012	B;B;B	0.12837	0.007;0.008;0.003	T	0.21484	-1.0244	10	0.33141	T	0.24	.	9.2776	0.37709	0.0:0.0868:0.0:0.9132	.	687;687;678	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	678;687;687;687	ENSP00000322791:M678L;ENSP00000438388:M687L;ENSP00000384231:M687L	ENSP00000322791:M678L	M	-	1	0	KIF1A	241350866	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.206000	0.58473	0.568000	0.29311	0.383000	0.25322	ATG		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	10	0	0	0	0	3	10				
ZNF343	79175	broad.mit.edu	37	20	2464844	2464844	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr20:2464844T>C	ENST00000278772.4	-	6	1250	c.763A>G	c.(763-765)Aac>Gac	p.N255D	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTAATAAAGTTTGATTCCAGG	0.438																																						uc002wge.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(763-765)AAC>GAC		zinc finger protein 343							96.0	96.0	96.0					20																	2464844		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464844T>C	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.763A>G	20.37:g.2464844T>C	ENSP00000278772:p.Asn255Asp					ZNF343_uc010gao.1_Missense_Mutation_p.N255D|ZNF343_uc002wgd.1_Missense_Mutation_p.N165D	p.N255D	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1251	-			255					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.763A>G	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	T	7.046	0.563458	0.13498	.	.	ENSG00000088876	ENST00000278772	T	0.07327	3.2	2.9	-5.72	0.02406	.	.	.	.	.	T	0.04048	0.0113	N	0.17764	0.52	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45833	-0.9234	9	0.15499	T	0.54	.	6.9458	0.24518	0.1375:0.5306:0.0:0.3319	.	255	Q6P1L6	ZN343_HUMAN	D	255	ENSP00000278772:N255D	ENSP00000278772:N255D	N	-	1	0	ZNF343	2412844	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-5.147000	0.00147	-1.522000	0.01769	0.482000	0.46254	AAC		0.438	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		7	90	0	0	0	0	7	90				
ITSN1	6453	broad.mit.edu	37	21	35190747	35190747	+	Silent	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr21:35190747C>G	ENST00000381318.3	+	23	3192	c.2904C>G	c.(2902-2904)ctC>ctG	p.L968L	ITSN1_ENST00000437442.2_Silent_p.L963L|ITSN1_ENST00000381285.4_Silent_p.L968L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.L968L|ITSN1_ENST00000399326.3_Silent_p.L963L|ITSN1_ENST00000381291.4_Silent_p.L968L|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399349.1_Silent_p.L963L|ITSN1_ENST00000399352.1_Silent_p.L963L|ITSN1_ENST00000399353.1_Silent_p.L926L|ITSN1_ENST00000399367.3_Silent_p.L963L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	968	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGTGAAACTCATTTCAGGGC	0.393																																						uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(2902-2904)CTC>CTG		intersectin 1 isoform ITSN-l							178.0	173.0	175.0					21																	35190747		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35190747C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2904C>G	21.37:g.35190747C>G						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.L963L|ITSN1_uc010gmg.2_Silent_p.L926L|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Silent_p.L968L|ITSN1_uc010gmi.2_Silent_p.L931L|ITSN1_uc010gmj.2_Silent_p.L847L|ITSN1_uc002ysy.2_Silent_p.L963L|ITSN1_uc002ysx.2_Silent_p.L926L|ITSN1_uc002ytb.1_Silent_p.L963L|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.L931L|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Silent_p.L963L|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.L902L|ITSN1_uc002ytg.1_Silent_p.L21L	p.L968L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			23	3172	+			968			SH3 2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.2904C>G	CCDS33545.1																																																																																				0.393	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		57	79	0	0	0	0	57	79				
RGL4	266747	broad.mit.edu	37	22	24035973	24035973	+	Missense_Mutation	SNP	G	G	A	rs145276888	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:24035973G>A	ENST00000290691.5	+	4	1894	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E106K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	242	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGTGCTCCACGAATGCTTGGG	0.582													g|||	2	0.000399361	0.0008	0.0	5008	,	,		21520	0.0		0.0	False		,,,				2504	0.001					uc002zxn.2		NA																	0				ovary(1)	1						c.(724-726)GAA>AAA		ral guanine nucleotide dissociation		G	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	131.0	97.0	108.0		724	-2.8	0.0	22	dbSNP_134	108	0,8600		0,0,4300	no	missense	RGL4	NM_153615.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	242/474	24035973	2,13004	2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24035973G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.724G>A	22.37:g.24035973G>A	ENSP00000290691:p.Glu242Lys					LOC91316_uc002zxh.3_5'Flank|LOC91316_uc002zxi.3_5'Flank|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.E242K|RGL4_uc002zxp.1_Missense_Mutation_p.E106K|RGL4_uc002zxq.2_Missense_Mutation_p.E106K	p.E242K	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			4	1894	+			242			Ras-GEF.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.724G>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.665743	0.67700	4.54E-4	0.0	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.56941	0.43;0.43;0.43	2.95	-2.79	0.05841	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.499676	0.17827	N	0.160670	T	0.71986	0.3405	M	0.91196	3.185	0.09310	N	0.999996	D;D;D;D	0.65815	0.995;0.995;0.994;0.988	P;P;P;P	0.60541	0.84;0.793;0.876;0.836	T	0.70985	-0.4723	10	0.72032	D	0.01	.	15.0315	0.71710	0.0:0.8016:0.1984:0.0	.	106;106;242;242	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	K	106;242;242;242	ENSP00000383951:E106K;ENSP00000290691:E242K;ENSP00000402142:E242K	ENSP00000290691:E242K	E	+	1	0	RGL4	22365973	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	2.689000	0.46993	-0.375000	0.07955	0.543000	0.68304	GAA		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		10	47	0	0	0	0	10	47				
MYO18B	84700	broad.mit.edu	37	22	26343789	26343789	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:26343789G>C	ENST00000407587.2	+	36	5915	c.5746G>C	c.(5746-5748)Gct>Cct	p.A1916P	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1915P|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1915P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1915	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCTCATTGCTCAGGTAGT	0.537																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5743-5745)GCT>CCT		myosin XVIIIB							57.0	59.0	58.0					22																	26343789		2055	4204	6259	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26343789G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5746G>C	22.37:g.26343789G>C	ENSP00000386096:p.Ala1916Pro					MYO18B_uc003aca.1_Missense_Mutation_p.A1796P|MYO18B_uc010guy.1_Missense_Mutation_p.A1797P|MYO18B_uc010guz.1_Missense_Mutation_p.A1795P|MYO18B_uc011aka.1_Missense_Mutation_p.A1069P|MYO18B_uc011akb.1_Missense_Mutation_p.A1428P	p.A1915P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			36	5993	+			1915			Tail.|Potential.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5743G>C		.	.	.	.	.	.	.	.	.	.	G	26.5	4.739471	0.89573	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88431	-2.38;-2.38;-2.38	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	D	0.94132	0.8118	M	0.75264	2.295	0.54753	D	0.999981	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.94724	0.7903	10	0.72032	D	0.01	.	17.0072	0.86396	0.0:0.0:1.0:0.0	.	1428;1915;1916;1915	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	P	1915;1915;1916	ENSP00000441229:A1915P;ENSP00000334563:A1915P;ENSP00000386096:A1916P	ENSP00000334563:A1915P	A	+	1	0	MYO18B	24673789	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.341000	0.79300	2.360000	0.80028	0.655000	0.94253	GCT		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		7	19	0	0	0	0	7	19				
TRIOBP	11078	broad.mit.edu	37	22	38131322	38131322	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:38131322C>G	ENST00000406386.3	+	9	5234	c.4979C>G	c.(4978-4980)aCc>aGc	p.T1660S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1660					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTGCCTGCACCTCCACCCAG	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(4978-4980)ACC>AGC		TRIO and F-actin binding protein isoform 6							30.0	38.0	35.0					22																	38131322		2107	4232	6339	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38131322C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4979C>G	22.37:g.38131322C>G	ENSP00000384312:p.Thr1660Ser		OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TRIOBP_uc003atu.2_Missense_Mutation_p.T1488S	p.T1660S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	5250	+	Melanoma(58;0.0574)		1660					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4979C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191184	0.38707	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.27104	1.69	4.74	0.774	0.18521	.	.	.	.	.	T	0.13329	0.0323	N	0.19112	0.55	0.80722	D	1	B	0.33694	0.421	B	0.32864	0.154	T	0.11179	-1.0598	9	0.33141	T	0.24	.	6.0476	0.19768	0.0:0.7098:0.1675:0.1227	.	1660	Q9H2D6	TARA_HUMAN	S	1660;1621	ENSP00000384312:T1660S	ENSP00000384312:T1660S	T	+	2	0	TRIOBP	36461268	0.773000	0.28580	0.997000	0.53966	0.927000	0.56198	-0.274000	0.08537	0.503000	0.28060	0.557000	0.71058	ACC		0.677	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			10	28	0	0	0	0	10	28				
CELSR1	9620	broad.mit.edu	37	22	46785346	46785346	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:46785346C>T	ENST00000262738.3	-	18	6395	c.6396G>A	c.(6394-6396)ctG>ctA	p.L2132L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2132					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACCAGCTGCAGGGCCCTGG	0.637																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6394-6396)CTG>CTA		cadherin EGF LAG seven-pass G-type receptor 1							39.0	37.0	37.0					22																	46785346		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46785346C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6396G>A	22.37:g.46785346C>T						CELSR1_uc011arc.1_Silent_p.L453L	p.L2132L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	18	6396	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2132			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.6396G>A	CCDS14076.1																																																																																				0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	36	0	0	0	0	9	36				
MAPK11	5600	broad.mit.edu	37	22	50703900	50703900	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50703900G>A	ENST00000330651.6	-	11	965	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	TCCAGCACCAGCATCCTTCCA	0.637																																					GBM(9;634 739 50668)	uc003bkr.2		NA																	0				lung(1)|breast(1)	2						c.(865-867)CTG>TTG		mitogen-activated protein kinase 11							62.0	59.0	60.0					22																	50703900		2203	4300	6503	SO:0001819	synonymous_variant	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50703900G>A	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.865C>T	22.37:g.50703900G>A						MAPK11_uc010hax.2_Silent_p.L111L|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA	p.L289L	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	923	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	289			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Silent	SNP	ENST00000330651.6	37	c.865C>T	CCDS14090.1																																																																																				0.637	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			4	52	0	0	0	0	4	52				
SBF1	6305	broad.mit.edu	37	22	50886980	50886980	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr22:50886980C>G	ENST00000390679.3	-	36	5249	c.5065G>C	c.(5065-5067)Gac>Cac	p.D1689H	SBF1_ENST00000348911.6_Missense_Mutation_p.D1690H|SBF1_ENST00000380817.3_Missense_Mutation_p.D1715H			O95248	MTMR5_HUMAN	SET binding factor 1	1689					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACGGCCGTCTGGCCGGCCC	0.662																																						uc003blh.2		NA																	0					0						c.(5143-5145)GAC>CAC		SET binding factor 1							32.0	40.0	38.0					22																	50886980		2100	4214	6314	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50886980C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5065G>C	22.37:g.50886980C>G	ENSP00000375097:p.Asp1689His					SBF1_uc003ble.2_Missense_Mutation_p.D179H|SBF1_uc003blf.2_Missense_Mutation_p.D191H|SBF1_uc011arx.1_Missense_Mutation_p.D1353H	p.D1715H	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	37	5338	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1689					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.5143G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.77|13.77	2.337272|2.337272	0.41398|0.41398	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	T;T;T|.	0.12569|.	2.67;2.67;2.67|.	4.57|4.57	3.53|3.53	0.40419|0.40419	.|.	0.589415|.	0.15320|.	N|.	0.268562|.	T|T	0.45458|0.45458	0.1343|0.1343	N|N	0.14661|0.14661	0.345|0.345	0.42665|0.42665	D|D	0.993498|0.993498	D;D;D|.	0.61080|.	0.989;0.958;0.977|.	P;P;P|.	0.60345|.	0.873;0.799;0.789|.	T|T	0.33189|0.33189	-0.9878|-0.9878	10|5	0.29301|.	T|.	0.29|.	.|.	13.7047|13.7047	0.62631|0.62631	0.0:0.8433:0.1567:0.0|0.0:0.8433:0.1567:0.0	.|.	1689;1715;236|.	O95248;O95248-4;A6PVG7|.	MTMR5_HUMAN;.;.|.	H|T	1715;1690;1725;1689|236	ENSP00000370196:D1715H;ENSP00000252027:D1690H;ENSP00000375097:D1689H|.	ENSP00000336522:D1725H|.	D|R	-|-	1|2	0|0	SBF1|SBF1	49233846|49233846	1.000000|1.000000	0.71417|0.71417	0.359000|0.359000	0.25824|0.25824	0.316000|0.316000	0.28119|0.28119	4.122000|4.122000	0.57910|0.57910	1.048000|1.048000	0.40298|0.40298	0.491000|0.491000	0.48974|0.48974	GAC|AGA		0.662	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	31	0	0	0	0	4	31				
RAF1	5894	broad.mit.edu	37	3	12626379	12626379	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:12626379C>T	ENST00000251849.4	-	16	2209	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K	RAF1_ENST00000442415.2_Silent_p.K610K|RAF1_ENST00000542177.1_Silent_p.K509K|RAF1_ENST00000534997.1_Silent_p.K375K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTTTACTTTCTTCACACAGT	0.463			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.3		NA		Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	0				central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14						c.(1768-1770)AAG>AAA		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						96.0	95.0	95.0					3																	12626379		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626379C>T	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1770G>A	3.37:g.12626379C>T						RAF1_uc011aut.1_Silent_p.K375K|RAF1_uc011auu.1_Silent_p.K508K	p.K590K	NM_002880	NP_002871	P04049	RAF1_HUMAN			16	2185	-			590			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1770G>A	CCDS2612.1																																																																																				0.463	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		24	71	0	0	0	0	24	71				
NUP210	23225	broad.mit.edu	37	3	13368824	13368824	+	Missense_Mutation	SNP	G	G	A	rs147955019		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:13368824G>A	ENST00000254508.5	-	32	4482	c.4400C>T	c.(4399-4401)tCg>tTg	p.S1467L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1467					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGAAGTCCGAGAGGCCCGG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18581	0.0		0.0	False		,,,				2504	0.0					uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(4399-4401)TCG>TTG		nucleoporin 210 precursor		G	LEU/SER	6,4400	11.4+/-27.6	0,6,2197	47.0	45.0	46.0		4400	4.0	0.6	3	dbSNP_134	46	0,8600		0,0,4300	yes	missense	NUP210	NM_024923.2	145	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	1467/1888	13368824	6,13000	2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13368824G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4400C>T	3.37:g.13368824G>A	ENSP00000254508:p.Ser1467Leu						p.S1467L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			32	4483	-	all_neural(104;0.187)		1467			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4400C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433855	0.25813	0.001362	0.0	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.74	3.97	0.46021	.	0.530450	0.19119	N	0.122225	T	0.06826	0.0174	L	0.38838	1.175	0.38749	D	0.954071	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	10	0.41790	T	0.15	.	12.5568	0.56258	0.1348:0.0:0.8652:0.0	.	1467	Q8TEM1	PO210_HUMAN	L	1467	ENSP00000254508:S1467L	ENSP00000254508:S1467L	S	-	2	0	NUP210	13343824	1.000000	0.71417	0.559000	0.28332	0.002000	0.02628	5.742000	0.68646	0.780000	0.33566	-0.137000	0.14449	TCG		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		7	26	0	0	0	0	7	26				
ZNF860	344787	broad.mit.edu	37	3	32030581	32030581	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32030581G>A	ENST00000360311.4	+	2	559	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						CATGTTACGTGAGGAAGCAGC	0.453																																						uc011axg.1		NA																	0				ovary(1)	1						c.(10-12)GAG>AAG		zinc finger protein 860							27.0	24.0	25.0					3																	32030581		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030581G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.10G>A	3.37:g.32030581G>A	ENSP00000373274:p.Glu4Lys						p.E4K	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	559	+			4					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.10G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625332	0.28889	.	.	ENSG00000197385	ENST00000360311	T	0.05319	3.46	0.557	0.557	0.17260	.	.	.	.	.	T	0.10121	0.0248	L	0.50333	1.59	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.24154	-1.0168	8	.	.	.	.	6.8345	0.23929	2.0E-4:0.0:0.9998:0.0	.	4	A6NHJ4	ZN860_HUMAN	K	4	ENSP00000373274:E4K	.	E	+	1	0	ZNF860	32005585	0.005000	0.15991	0.005000	0.12908	0.139000	0.21198	0.468000	0.22051	0.533000	0.28675	0.185000	0.17295	GAG		0.453	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			14	72	0	0	0	0	14	72				
CSPG5	10675	broad.mit.edu	37	3	47618627	47618627	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618627C>T	ENST00000383738.2	-	2	2987	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CSPG5_ENST00000456150.1_Missense_Mutation_p.E159K|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.E297K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	297	Interaction with TNC and TNR. {ECO:0000250}.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCTCATTTTCATCTTCTAGG	0.552																																						uc003crp.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(889-891)GAA>AAA		chondroitin sulfate proteoglycan 5 (neuroglycan							23.0	25.0	24.0					3																	47618627		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618627C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.889G>A	3.37:g.47618627C>T	ENSP00000373244:p.Glu297Lys					CSPG5_uc003crn.2_Missense_Mutation_p.E159K|CSPG5_uc003cro.3_Missense_Mutation_p.E297K|CSPG5_uc011bbb.1_Missense_Mutation_p.E159K	p.E297K	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	1065	-			297			Interaction with TNC and TNR (By similarity).|Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.889G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371773	0.82573	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.40225	1.19;1.04;1.1	4.28	3.38	0.38709	.	0.489988	0.19595	N	0.110529	T	0.31071	0.0785	N	0.19112	0.55	0.30656	N	0.754865	P;P	0.40970	0.615;0.734	B;B	0.42555	0.219;0.391	T	0.21621	-1.0240	10	0.36615	T	0.2	-2.8772	12.0014	0.53232	0.0:0.8236:0.1764:0.0	.	297;297	O95196;O95196-2	CSPG5_HUMAN;.	K	159;297;297	ENSP00000392096:E159K;ENSP00000373244:E297K;ENSP00000264723:E297K	ENSP00000264723:E297K	E	-	1	0	CSPG5	47593631	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	2.667000	0.46808	1.085000	0.41206	0.655000	0.94253	GAA		0.552	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		7	25	0	0	0	0	7	25				
CSPG5	10675	broad.mit.edu	37	3	47618876	47618876	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47618876C>T	ENST00000383738.2	-	2	2738	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CSPG5_ENST00000456150.1_Missense_Mutation_p.E76K|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.E214K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	214					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGTCCTTCGAAGTAGTCG	0.592																																						uc003crp.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(640-642)GAA>AAA		chondroitin sulfate proteoglycan 5 (neuroglycan							50.0	52.0	51.0					3																	47618876		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618876C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.640G>A	3.37:g.47618876C>T	ENSP00000373244:p.Glu214Lys					CSPG5_uc003crn.2_Missense_Mutation_p.E76K|CSPG5_uc003cro.3_Missense_Mutation_p.E214K|CSPG5_uc011bbb.1_Missense_Mutation_p.E76K	p.E214K	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	816	-			214			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.640G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195811	0.78902	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.51574	0.7;0.7;0.7	4.41	2.55	0.30701	Chondroitin sulphate attachment (1);	0.731705	0.13532	N	0.380831	T	0.41511	0.1162	N	0.24115	0.695	0.25064	N	0.991041	P;D	0.62365	0.824;0.991	B;P	0.46320	0.278;0.512	T	0.36939	-0.9727	10	0.72032	D	0.01	-4.5746	15.7799	0.78252	0.0:0.7402:0.2597:0.0	.	214;214	O95196;O95196-2	CSPG5_HUMAN;.	K	76;214;214	ENSP00000392096:E76K;ENSP00000373244:E214K;ENSP00000264723:E214K	ENSP00000264723:E214K	E	-	1	0	CSPG5	47593880	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	1.633000	0.37113	0.194000	0.20326	-0.836000	0.03065	GAA		0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		13	41	0	0	0	0	13	41				
DHX30	22907	broad.mit.edu	37	3	47889747	47889747	+	Silent	SNP	C	C	T	rs147501030		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:47889747C>T	ENST00000445061.1	+	15	2771	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	DHX30_ENST00000446256.2_Silent_p.S749S|DHX30_ENST00000348968.4_Silent_p.S760S|DHX30_ENST00000457607.1_Silent_p.S816S|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	788	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gcTGCCAGTCCGGCTTTGCCT	0.612																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(2362-2364)TCC>TCT		DEAH (Asp-Glu-Ala-His) box polypeptide 30		C	,	1,4405	2.1+/-5.4	0,1,2202	33.0	38.0	37.0		2247,2364	-7.2	0.7	3	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHX30	NM_014966.3,NM_138615.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	749/1156,788/1195	47889747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889747C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2364C>T	3.37:g.47889747C>T						DHX30_uc003crt.2_Silent_p.S749S|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.S788S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2790	+			788			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.2364C>T	CCDS2759.1																																																																																				0.612	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		12	38	0	0	0	0	12	38				
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						uc003cwu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(118-120)GAG>CAG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						157.0	147.0	150.0					3																	49412905		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412905C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln					RHOA_uc010hku.2_5'UTR	p.E40Q	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	394	-			40			Effector region (Potential).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.118G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		39	135	0	0	0	0	39	135				
STAB1	23166	broad.mit.edu	37	3	52539121	52539121	+	Silent	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:52539121C>A	ENST00000321725.6	+	13	1556	c.1480C>A	c.(1480-1482)Cgg>Agg	p.R494R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	494	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACTGGCCTGCGGTGGCAGGC	0.597																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1480-1482)CGG>AGG		stabilin 1 precursor							75.0	83.0	81.0					3																	52539121		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539121C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1480C>A	3.37:g.52539121C>A						STAB1_uc003dei.1_Silent_p.R494R	p.R494R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	13	1554	+			494			Extracellular (Potential).|FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1480C>A	CCDS33768.1																																																																																				0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		23	94	1	0	9.04e-07	9.65e-07	23	94				
DENND6A	201627	broad.mit.edu	37	3	57619070	57619070	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:57619070C>G	ENST00000311128.5	-	15	1345	c.1275G>C	c.(1273-1275)caG>caC	p.Q425H	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	425					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAGGACGTTTCTGTTGTACAC	0.299																																						uc003dja.2		NA																	0				pancreas(1)	1						c.(1273-1275)CAG>CAC		hypothetical protein LOC201627							69.0	72.0	71.0					3																	57619070		2203	4298	6501	SO:0001583	missense	201627							g.chr3:57619070C>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1275G>C	3.37:g.57619070C>G	ENSP00000311401:p.Gln425His						p.Q425H	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	15	1346	-			425					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1275G>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533570	0.64972	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.39	4.49	0.54785	.	0.054670	0.85682	D	0.000000	T	0.52484	0.1737	L	0.34521	1.04	0.54753	D	0.999989	D	0.60575	0.988	P	0.54664	0.758	T	0.52624	-0.8551	9	0.48119	T	0.1	-40.7579	10.8866	0.46971	0.0:0.8421:0.0:0.1579	.	425	Q8IWF6	F116A_HUMAN	H	425	.	ENSP00000311401:Q425H	Q	-	3	2	FAM116A	57594110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.995000	0.49441	1.327000	0.45338	0.557000	0.71058	CAG		0.299	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		16	53	0	0	0	0	16	53				
ADAMTS9	56999	broad.mit.edu	37	3	64526789	64526789	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:64526789T>C	ENST00000498707.1	-	36	5845	c.5503A>G	c.(5503-5505)Acc>Gcc	p.T1835A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1807A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1835	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCATGCTGGTCAGGTCTATT	0.493																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(5503-5505)ACC>GCC		ADAM metallopeptidase with thrombospondin type 1							90.0	86.0	87.0					3																	64526789		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526789T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5503A>G	3.37:g.64526789T>C	ENSP00000418735:p.Thr1835Ala					ADAMTS9_uc011bfo.1_Missense_Mutation_p.T1807A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T746A	p.T1835A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5535	-		Lung NSC(201;0.00682)	1835			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5503A>G	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.767|6.767	0.510323|0.510323	0.12883|0.12883	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.16897|.	2.31;2.31|.	5.73|5.73	-3.97|-3.97	0.04094|0.04094	Peptidase M12B, GON-ADAMTSs (2);|.	0.640808|.	0.16206|.	N|.	0.224707|.	T|.	0.25606|.	0.0623|.	N|N	0.20845|0.20845	0.615|0.615	0.23506|0.23506	N|N	0.997535|0.997535	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.34625|.	-0.9821|.	10|.	0.13108|.	T|.	0.6|.	.|.	9.026|9.026	0.36230|0.36230	0.0:0.4341:0.1099:0.456|0.0:0.4341:0.1099:0.456	.|.	1807;1835|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	A|W	1807;1835|890	ENSP00000295903:T1807A;ENSP00000418735:T1835A|.	ENSP00000295903:T1807A|.	T|X	-|-	1|3	0|0	ADAMTS9|ADAMTS9	64501829|64501829	0.281000|0.281000	0.24258|0.24258	0.177000|0.177000	0.23020|0.23020	0.571000|0.571000	0.35966|0.35966	0.623000|0.623000	0.24447|0.24447	-0.426000|-0.426000	0.07360|0.07360	-0.313000|-0.313000	0.08912|0.08912	ACC|TGA		0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			18	52	0	0	0	0	18	52				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000330909.8_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003dmn.2		NA																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(1234-1236)CAG>CAA		membrane associated guanylate kinase, WW and PDZ		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_uc003dmm.2_Silent_p.Q412Q|MAGI1_uc003dmo.2_Silent_p.Q412Q|MAGI1_uc003dmp.2_Silent_p.Q412Q|MAGI1_uc010hny.2_Silent_p.Q297Q	p.Q412Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1762	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	93	0	0	0	0	4	93				
SLC9C1	285335	broad.mit.edu	37	3	111886130	111886130	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:111886130A>T	ENST00000305815.5	-	26	3554	c.3302T>A	c.(3301-3303)tTc>tAc	p.F1101Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.F1053Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1101					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATTCCTTCTGAATGTTTTCAT	0.303																																						uc003dyu.2		NA																	0				ovary(3)|breast(2)	5						c.(3301-3303)TTC>TAC		sperm-specific sodium proton exchanger							86.0	87.0	87.0					3																	111886130		2201	4291	6492	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111886130A>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3302T>A	3.37:g.111886130A>T	ENSP00000306627:p.Phe1101Tyr					SLC9A10_uc011bhu.1_Missense_Mutation_p.F364Y|SLC9A10_uc010hqc.2_Missense_Mutation_p.F1053Y	p.F1101Y	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			26	3524	-			1101					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3302T>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.895007	0.33442	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.21	4.33	-3.94	0.04130	.	0.509075	0.19640	N	0.109462	T	0.61788	0.2375	L	0.42245	1.32	0.09310	N	1	D;P	0.55172	0.97;0.936	P;B	0.48270	0.572;0.388	T	0.60821	-0.7187	10	0.13853	T	0.58	1.404	0.2571	0.00213	0.3056:0.148:0.2582:0.2882	.	1053;1101	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Y	1101;1053	ENSP00000306627:F1101Y;ENSP00000420688:F1053Y	ENSP00000306627:F1101Y	F	-	2	0	SLC9A10	113368820	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.392000	0.07314	-0.744000	0.04778	-0.291000	0.09656	TTC		0.303	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		4	22	0	0	0	0	4	22				
UMPS	7372	broad.mit.edu	37	3	124462850	124462850	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124462850C>T	ENST00000232607.2	+	6	1468	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	UMPS_ENST00000538242.1_Silent_p.I276I|UMPS_ENST00000536109.1_Silent_p.I362I|UMPS_ENST00000413078.2_Silent_p.I179I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	454	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GTGGCATAATCTCAGCAGCTG	0.433																																						uc003ehl.3		NA																	0				kidney(1)	1						c.(1360-1362)ATC>ATT		uridine monophosphate synthase							176.0	157.0	163.0					3																	124462850		2203	4300	6503	SO:0001819	synonymous_variant	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124462850C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1362C>T	3.37:g.124462850C>T						UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.I276I|UMPS_uc011bkb.1_Silent_p.I362I|UMPS_uc011bkc.1_Silent_p.I276I|UMPS_uc003ehn.3_Silent_p.I276I|UMPS_uc011bkd.1_Silent_p.I179I	p.I454I	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	6	1468	+			454			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	ENST00000232607.2	37	c.1362C>T	CCDS3029.1																																																																																				0.433	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		12	22	0	0	0	0	12	22				
MUC13	56667	broad.mit.edu	37	3	124641076	124641076	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:124641076A>G	ENST00000311075.3	-	4	747	c.709T>C	c.(709-711)Tat>Cat	p.Y237H		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	238	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAGTCTTGATAGGCCATGGAA	0.378																																						uc003ehq.1		NA																	0					0						c.(709-711)TAT>CAT		mucin 13, epithelial transmembrane							140.0	131.0	134.0					3																	124641076		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124641076A>G	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.709T>C	3.37:g.124641076A>G	ENSP00000312235:p.Tyr237His						p.Y237H	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			4	733	-			237			SEA.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.709T>C		.	.	.	.	.	.	.	.	.	.	A	15.18	2.757001	0.49362	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;T	0.49139	0.79;0.79	4.32	4.32	0.51571	SEA (2);	0.000000	0.45361	D	0.000362	T	0.60612	0.2282	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50320	-0.8842	10	0.36615	T	0.2	-48.8286	10.1586	0.42838	1.0:0.0:0.0:0.0	.	237	Q9H3R2	MUC13_HUMAN	H	237;107	ENSP00000312235:Y237H;ENSP00000418660:Y107H	ENSP00000312235:Y237H	Y	-	1	0	MUC13	126123766	0.910000	0.30920	0.071000	0.20095	0.040000	0.13550	3.612000	0.54142	2.178000	0.69098	0.477000	0.44152	TAT		0.378	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	36	0	0	0	0	7	36				
PIK3R4	30849	broad.mit.edu	37	3	130452474	130452474	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:130452474G>C	ENST00000356763.3	-	4	1925	c.1368C>G	c.(1366-1368)atC>atG	p.I456M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	456					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATAAATATTGATATCATTAC	0.448																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1366-1368)ATC>ATG		phosphoinositide-3-kinase, regulatory subunit 4							85.0	79.0	81.0					3																	130452474		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452474G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1368C>G	3.37:g.130452474G>C	ENSP00000349205:p.Ile456Met						p.I456M	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1949	-			456					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1368C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552936	0.45487	.	.	ENSG00000196455	ENST00000356763	T	0.41400	1.0	6.07	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.508491	0.22988	N	0.053229	T	0.22166	0.0534	N	0.02539	-0.55	0.37363	D	0.911317	B	0.23128	0.08	B	0.27608	0.081	T	0.18366	-1.0339	10	0.56958	D	0.05	-3.3073	12.3381	0.55079	0.1459:0.0:0.8541:0.0	.	456	Q99570	PI3R4_HUMAN	M	456	ENSP00000349205:I456M	ENSP00000349205:I456M	I	-	3	3	PIK3R4	131935164	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	2.199000	0.42715	1.569000	0.49696	0.655000	0.94253	ATC		0.448	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		12	40	0	0	0	0	12	40				
IGSF10	285313	broad.mit.edu	37	3	151155070	151155070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:151155070C>A	ENST00000282466.3	-	6	7278	c.7279G>T	c.(7279-7281)Gaa>Taa	p.E2427*	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2427	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCCAATTTCTAATATGACT	0.403																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7279-7281)GAA>TAA		immunoglobulin superfamily, member 10 precursor							104.0	106.0	105.0					3																	151155070		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155070C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7279G>T	3.37:g.151155070C>A	ENSP00000282466:p.Glu2427*					IGSF10_uc011bob.1_Nonsense_Mutation_p.E454*|IGSF10_uc011boc.1_Nonsense_Mutation_p.E406*	p.E2427*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7279	-			2427			Ig-like C2-type 10.		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.7279G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	47	12.982774	0.99711	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.66	5.66	0.87406	.	0.000000	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	2427	.	ENSP00000282466:E2427X	E	-	1	0	IGSF10	152637760	1.000000	0.71417	0.810000	0.32431	0.486000	0.33341	4.352000	0.59404	2.832000	0.97577	0.655000	0.94253	GAA		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		15	76	1	0	3.27e-08	3.55e-08	15	76				
MME	4311	broad.mit.edu	37	3	154832894	154832894	+	Missense_Mutation	SNP	G	G	A	rs574482291		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:154832894G>A	ENST00000460393.1	+	4	428	c.308G>A	c.(307-309)cGt>cAt	p.R103H	MME_ENST00000493237.1_Missense_Mutation_p.R103H|MME_ENST00000477669.1_3'UTR|MME_ENST00000492661.1_Missense_Mutation_p.R103H|MME_ENST00000360490.2_Missense_Mutation_p.R103H|MME_ENST00000462745.1_Missense_Mutation_p.R103H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R103L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACCAGCTCCCGTTACGGCAAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16827	0.001		0.0	False		,,,				2504	0.0					uc010hvr.1		NA																	1	Substitution - Missense(1)	p.R103L(1)	ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(307-309)CGT>CAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						124.0	116.0	119.0					3																	154832894		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832894G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.308G>A	3.37:g.154832894G>A	ENSP00000418525:p.Arg103His					MME_uc003fab.1_Missense_Mutation_p.R103H|MME_uc003fac.1_Missense_Mutation_p.R103H|MME_uc003fad.1_Missense_Mutation_p.R103H|MME_uc003fae.1_Missense_Mutation_p.R103H	p.R103H	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	519	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	103			Extracellular (Potential).	Substrate carboxyl (By similarity).	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.308G>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277634	0.59758	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000462837	T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.6	5.6	0.85130	Peptidase M13 (1);	0.276672	0.36778	N	0.002413	T	0.73289	0.3568	M	0.62016	1.91	0.44282	D	0.997143	P	0.48503	0.911	B	0.42625	0.393	T	0.77308	-0.2636	10	0.62326	D	0.03	-14.3204	14.4499	0.67376	0.0:0.0:0.8529:0.1471	.	103	P08473	NEP_HUMAN	H	103	ENSP00000420389:R103H;ENSP00000418525:R103H;ENSP00000420101:R103H;ENSP00000419653:R103H;ENSP00000417079:R103H;ENSP00000353679:R103H;ENSP00000418791:R103H;ENSP00000417595:R103H	ENSP00000353679:R103H	R	+	2	0	MME	156315588	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	4.500000	0.60387	2.648000	0.89879	0.655000	0.94253	CGT		0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	83	0	0	0	0	20	83				
SEC62	7095	broad.mit.edu	37	3	169703609	169703609	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:169703609A>G	ENST00000337002.4	+	6	624	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.Y189C|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	189					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTATGGATCTATGACCCAGTT	0.308																																						uc003fgg.2		NA																	0				ovary(1)	1						c.(565-567)TAT>TGT		translocation protein 1							139.0	139.0	139.0					3																	169703609		2203	4299	6502	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169703609A>G	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.566A>G	3.37:g.169703609A>G	ENSP00000337688:p.Tyr189Cys					SEC62_uc003fgh.2_Missense_Mutation_p.Y189C	p.Y189C	NM_003262	NP_003253	Q99442	SEC62_HUMAN			6	597	+			189			Cytoplasmic (Potential).		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.566A>G	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157343	0.78114	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85094	0.0953	9	0.87932	D	0	-11.3986	14.6069	0.68486	1.0:0.0:0.0:0.0	.	189	Q99442	SEC62_HUMAN	C	189	.	ENSP00000337688:Y189C	Y	+	2	0	SEC62	171186303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.149000	0.89632	2.096000	0.63516	0.528000	0.53228	TAT		0.308	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			12	48	0	0	0	0	12	48				
MUC4	4585	broad.mit.edu	37	3	195501148	195501148	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:195501148G>A	ENST00000346145.4	-	3	303	c.264C>T	c.(262-264)ggC>ggT	p.G88G	MUC4_ENST00000349607.4_Silent_p.G37G|MUC4_ENST00000463781.3_Silent_p.G4324G|MUC4_ENST00000475231.1_Silent_p.G4324G	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1081					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTCCCCGGCGCCTGCCCCAT	0.627																																						uc011bto.1		NA																	0					0						c.(12586-12588)GGC>GGT		mucin 4 isoform a							40.0	44.0	43.0					3																	195501148		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195501148G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.264C>T	3.37:g.195501148G>A						MUC4_uc003fuz.2_Missense_Mutation_p.A4V|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Silent_p.G65G|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.G65G|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.G88G|MUC4_uc003fvp.2_Silent_p.G37G|MUC4_uc010hzu.1_Silent_p.G936G	p.G4196G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	5	13048	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1081					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.12588C>T	CCDS3310.1																																																																																				0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		26	32	0	0	0	0	26	32				
PACRGL	133015	broad.mit.edu	37	4	20711361	20711361	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:20711361C>G	ENST00000503585.1	+	5	722	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.L111V|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L111V|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.L111V	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	111								p.L111V(1)		endometrium(2)|lung(7)|prostate(1)	10						TCCTGAAAGTCTTTCATTTGA	0.289																																						uc010iek.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CTT>GTT		PARK2 co-regulated-like isoform 1							125.0	130.0	128.0					4																	20711361		2203	4297	6500	SO:0001583	missense	133015						binding	g.chr4:20711361C>G	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.331C>G	4.37:g.20711361C>G	ENSP00000423881:p.Leu111Val					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L159V|PACRGL_uc003gpz.2_Missense_Mutation_p.L111V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L111V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	p.L111V	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			5	722	+			111					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.331C>G	CCDS58895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.077407|2.077407	0.36662|0.36662	.|.	.|.	ENSG00000163138|ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000509469;ENST00000513590;ENST00000507634|ENST00000506457	.|.	.|.	.|.	5.76|5.76	4.92|4.92	0.64577|0.64577	.|.	0.177180|.	0.39475|.	N|.	0.001356|.	T|T	0.59459|0.59459	0.2195|0.2195	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;P;B|.	0.38827|.	0.243;0.649;0.204|.	B;B;B|.	0.42462|.	0.095;0.388;0.058|.	T|T	0.62248|0.62248	-0.6894|-0.6894	9|6	0.42905|0.66056	T|D	0.14|0.02	-28.896|-28.896	6.4213|6.4213	0.21746|0.21746	0.1268:0.6623:0.138:0.0729|0.1268:0.6623:0.138:0.0729	.|.	111;159;111|.	Q8N7B6;D6R9N9;Q8N7B6-2|.	PACRL_HUMAN;.;.|.	V|C	159;111;111;111;111;111;111;111|42	.|.	ENSP00000295290:L111V|ENSP00000426399:S42C	L|S	+|+	1|2	0|0	PACRGL|PACRGL	20320459|20320459	0.911000|0.911000	0.30947|0.30947	0.736000|0.736000	0.30914|0.30914	0.967000|0.967000	0.64934|0.64934	1.445000|1.445000	0.35079|0.35079	1.432000|1.432000	0.47375|0.47375	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.289	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		16	82	0	0	0	0	16	82				
PCDH7	5099	broad.mit.edu	37	4	30724333	30724333	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:30724333C>T	ENST00000361762.2	+	1	2297	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACGGGGTGGCCAACGTGGCC	0.617																																						uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1288-1290)GCC>GTC		protocadherin 7 isoform a precursor							45.0	42.0	43.0					4																	30724333		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724333C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1289C>T	4.37:g.30724333C>T	ENSP00000355243:p.Ala430Val					PCDH7_uc011bxw.1_Missense_Mutation_p.A383V|PCDH7_uc011bxx.1_Missense_Mutation_p.A430V	p.A430V	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2297	+			430			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1289C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417112	0.25552	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.52295	0.67;0.67	5.48	5.48	0.80851	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.52289	0.1725	N	0.17723	0.515	0.51233	D	0.999914	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.39333	-0.9619	9	0.09084	T	0.74	.	19.3488	0.94376	0.0:1.0:0.0:0.0	.	430;383;430	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	V	430;430;383	ENSP00000355243:A430V;ENSP00000441802:A430V	ENSP00000330302:A383V	A	+	2	0	PCDH7	30333431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.089000	0.71384	2.569000	0.86673	0.655000	0.94253	GCC		0.617	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		3	24	0	0	0	0	3	24				
EPHA5	2044	broad.mit.edu	37	4	66197845	66197845	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:66197845C>T	ENST00000273854.3	-	17	3454	c.2854G>A	c.(2854-2856)Gta>Ata	p.V952I	EPHA5_ENST00000432638.2_Splice_Site_p.V789I|EPHA5_ENST00000354839.4_Splice_Site_p.V930I|EPHA5_ENST00000511294.1_Splice_Site_p.V953I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	952					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTAGATACTCTAAAACAC	0.333										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2854-2856)GTA>ATA		ephrin receptor EphA5 isoform a precursor							42.0	39.0	40.0					4																	66197845		2203	4298	6501	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197845C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2853-1G>A	4.37:g.66197845C>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.V884I|EPHA5_uc003hcz.2_Missense_Mutation_p.V930I|EPHA5_uc011cah.1_Missense_Mutation_p.V953I|EPHA5_uc011cai.1_Missense_Mutation_p.V931I|EPHA5_uc003hda.2_Missense_Mutation_p.V953I	p.V952I	NM_004439	NP_004430	P54756	EPHA5_HUMAN			17	3047	-			952			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2854G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715567	0.15306	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.73047	-0.68;-0.71;-0.65;-0.67	5.38	5.38	0.77491	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000056	T	0.68742	0.3034	L	0.33245	0.995	0.80722	D	1	B;B;P;B	0.35507	0.373;0.024;0.506;0.031	B;B;B;B	0.44133	0.313;0.015;0.442;0.005	T	0.62718	-0.6795	10	0.21014	T	0.42	.	19.4921	0.95054	0.0:1.0:0.0:0.0	.	931;953;930;952	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	952;789;930;953	ENSP00000273854:V952I;ENSP00000389208:V789I;ENSP00000346899:V930I;ENSP00000427638:V953I	ENSP00000273854:V952I	V	-	1	0	EPHA5	65880440	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.440000	0.59975	2.697000	0.92050	0.491000	0.48974	GTA		0.333	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Missense_Mutation	3	24	0	0	0	0	3	24				
CXCL2	2920	broad.mit.edu	37	4	74964583	74964583	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:74964583G>A	ENST00000508487.2	-	2	329	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	53					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to molecule of bacterial origin (GO:0002237)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.617																																						uc003hhm.3		NA																	0					0						c.(157-159)CAC>TAC		chemokine (C-X-C motif) ligand 2							87.0	97.0	94.0					4																	74964583		2203	4300	6503	SO:0001583	missense	2920				chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity	g.chr4:74964583G>A	M36820	CCDS34008.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000081041		"""Endogenous ligands"""	4603	protein-coding gene	gene with protein product		139110	"""GRO2 oncogene"""	GRO2		2217207	Standard	NM_002089		Approved	SCYB2, GROb, MIP-2a, MGSA-b, CINC-2a	uc003hhm.4	P19875		ENST00000508487.2:c.157C>T	4.37:g.74964583G>A	ENSP00000427279:p.His53Tyr						p.H53Y	NM_002089	NP_002080	P19875	CXCL2_HUMAN	all cancers(17;0.00317)|Lung(101;0.196)		2	317	-	Breast(15;0.00612)		53					Q6FGD6|Q9UPB8	Missense_Mutation	SNP	ENST00000508487.2	37	c.157C>T	CCDS34008.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239283	0.39598	.	.	ENSG00000081041	ENST00000508487	T	0.05081	3.5	3.6	3.6	0.41247	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.164825	0.53938	D	0.000055	T	0.28896	0.0717	M	0.92555	3.32	0.09310	N	1	D	0.65815	0.995	D	0.67725	0.953	T	0.11567	-1.0582	10	0.87932	D	0	.	10.9527	0.47339	0.0:0.0:1.0:0.0	.	53	P19875	CXCL2_HUMAN	Y	53	ENSP00000427279:H53Y	ENSP00000427279:H53Y	H	-	1	0	CXCL2	75183447	0.541000	0.26417	0.474000	0.27266	0.625000	0.37756	0.753000	0.26376	2.020000	0.59435	0.478000	0.44815	CAC		0.617	CXCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362731.2	NM_002089		31	142	0	0	0	0	31	142				
SPARCL1	8404	broad.mit.edu	37	4	88415749	88415749	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:88415749G>A	ENST00000282470.6	-	4	673	c.203C>T	c.(202-204)gCt>gTt	p.A68V	SPARCL1_ENST00000503414.1_5'UTR|SPARCL1_ENST00000418378.1_Splice_Site_p.A68V	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	68					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGATTTTTCAGCCTTAAAAGA	0.338																																						uc010ikm.2		NA																	0				ovary(1)	1						c.(202-204)GCT>GTT		SPARC-like 1 precursor							56.0	54.0	55.0					4																	88415749		2202	4299	6501	SO:0001630	splice_region_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415749G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.202-1C>T	4.37:g.88415749G>A						SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.A68V|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Missense_Mutation_p.A68V	p.A68V	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	775	-			68					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.203C>T	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095589	0.36952	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.1	-0.135	0.13477	.	0.255590	0.29760	N	0.011263	T	0.22322	0.0538	N	0.20986	0.625	0.30184	N	0.800128	B;B	0.14012	0.009;0.009	B;B	0.09377	0.004;0.004	T	0.05801	-1.0863	10	0.49607	T	0.09	-0.2205	3.8028	0.08765	0.0807:0.1301:0.3555:0.4338	.	68;68	Q8N4S1;Q14515	.;SPRL1_HUMAN	V	68	ENSP00000282470:A68V;ENSP00000414856:A68V;ENSP00000423483:A68V;ENSP00000416971:A68V;ENSP00000438188:A68V;ENSP00000423448:A68V;ENSP00000444832:A68V	ENSP00000282470:A68V	A	-	2	0	SPARCL1	88634773	0.993000	0.37304	0.994000	0.49952	0.702000	0.40608	-0.020000	0.12525	-0.175000	0.10725	-0.137000	0.14449	GCT		0.338	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		Missense_Mutation	3	36	0	0	0	0	3	36				
COL25A1	84570	broad.mit.edu	37	4	109783686	109783686	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:109783686A>C	ENST00000399132.1	-	22	1698	c.1168T>G	c.(1168-1170)Tca>Gca	p.S390A	COL25A1_ENST00000399127.1_Intron|COL25A1_ENST00000399126.1_Missense_Mutation_p.S390A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGTTCCTGATTCACCTTGT	0.373																																						uc003hze.1		NA																	0				ovary(2)	2						c.(1168-1170)TCA>GCA		collagen, type XXV, alpha 1 isoform 1							243.0	226.0	231.0					4																	109783686		1811	4086	5897	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109783686A>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1168T>G	4.37:g.109783686A>C	ENSP00000382083:p.Ser390Ala					COL25A1_uc003hzg.2_Missense_Mutation_p.S390A|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Intron	p.S390A	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1699	-		Hepatocellular(203;0.217)	390			Extracellular (Potential).|Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1168T>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	A	8.946	0.967055	0.18659	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399126;ENST00000443653	D;D	0.82711	-1.64;-1.64	5.62	3.14	0.36123	.	0.177867	0.37857	N	0.001904	T	0.66297	0.2775	N	0.10760	0.04	0.27371	N	0.955692	P;B	0.42078	0.77;0.005	P;B	0.44394	0.448;0.024	T	0.58092	-0.7697	9	.	.	.	-2.5203	5.3322	0.15938	0.7139:0.0:0.1538:0.1323	.	390;390	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	390;392;371;390;320	ENSP00000382083:S390A;ENSP00000382077:S390A	.	S	-	1	0	COL25A1	110003135	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.234000	0.43035	0.385000	0.24970	0.528000	0.53228	TCA		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		110	221	0	0	0	0	110	221				
CCNA2	890	broad.mit.edu	37	4	122740557	122740557	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:122740557A>T	ENST00000274026.5	-	5	1275	c.972T>A	c.(970-972)ccT>ccA	p.P324P		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	324					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGCAGTTTGCAGGCTGCTGAT	0.373																																						uc003iec.3		NA																	0				ovary(1)	1						c.(970-972)CCT>CCA		cyclin A							90.0	88.0	89.0					4																	122740557		2203	4300	6503	SO:0001819	synonymous_variant	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122740557A>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.972T>A	4.37:g.122740557A>T							p.P324P	NM_001237	NP_001228	P20248	CCNA2_HUMAN			5	1277	-			324					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Silent	SNP	ENST00000274026.5	37	c.972T>A	CCDS3723.1																																																																																				0.373	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		3	52	0	0	0	0	3	52				
CLGN	1047	broad.mit.edu	37	4	141320051	141320051	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:141320051C>T	ENST00000325617.5	-	8	1278	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	CLGN_ENST00000414773.1_Missense_Mutation_p.E280K|CLGN_ENST00000537281.1_Missense_Mutation_p.E280K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	280					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTTGCTCTTTCATCCCATTCC	0.403																																						uc011chi.1		NA																	0				ovary(2)|skin(1)	3						c.(838-840)GAA>AAA		calmegin precursor							219.0	212.0	215.0					4																	141320051		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141320051C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.838G>A	4.37:g.141320051C>T	ENSP00000326699:p.Glu280Lys					CLGN_uc003iii.2_Missense_Mutation_p.E280K	p.E280K	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			9	1056	-	all_hematologic(180;0.162)		280			Lumenal (Potential).|1-1.		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.838G>A	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920447	0.92249	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.55413	0.52;0.52;0.52	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.138027	0.64402	D	0.000004	T	0.65544	0.2701	L	0.50993	1.605	0.80722	D	1	D	0.58970	0.984	P	0.57244	0.816	T	0.65721	-0.6099	10	0.62326	D	0.03	-18.7832	19.9228	0.97093	0.0:1.0:0.0:0.0	.	280	O14967	CLGN_HUMAN	K	280;280;280;197	ENSP00000326699:E280K;ENSP00000392782:E280K;ENSP00000439381:E280K	ENSP00000326699:E280K	E	-	1	0	CLGN	141539501	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.709000	0.92574	0.637000	0.83480	GAA		0.403	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		29	190	0	0	0	0	29	190				
TRIM2	23321	broad.mit.edu	37	4	154197120	154197120	+	Silent	SNP	C	C	T	rs370159648	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:154197120C>T	ENST00000437508.2	+	3	411	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.P97P	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	70					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P97P(1)|p.P70P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		19120	0.0		0.0	False		,,,				2504	0.002					uc003ing.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(208-210)CCC>CCT		tripartite motif-containing 2 isoform 2		C	,	0,4406		0,0,2203	75.0	70.0	71.0		210,291	3.7	1.0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/745,97/772	154197120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154197120C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.210C>T	4.37:g.154197120C>T						TRIM2_uc003inh.2_Silent_p.P97P|TRIM2_uc003ini.1_Silent_p.P88P	p.P70P	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	3	411	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	70					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.210C>T	CCDS47147.1																																																																																				0.577	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			13	68	0	0	0	0	13	68				
HAND2	9464	broad.mit.edu	37	4	174449933	174449933	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr4:174449933C>T	ENST00000359562.4	-	1	1447	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000507062.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	170					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCTTGATCTCTGCCTTGAAG	0.612																																						uc003ith.1		NA																	0				skin(1)	1						c.(508-510)GAG>AAG		basic helix-loop-helix transcription factor							120.0	100.0	107.0					4																	174449933		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174449933C>T	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.508G>A	4.37:g.174449933C>T	ENSP00000352565:p.Glu170Lys					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.R135K|HAND2_uc010ire.1_Missense_Mutation_p.E170K	p.E170K	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1446	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	170					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.508G>A	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651552	0.88056	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.96992	-4.2	5.0	5.0	0.66597	.	0.057283	0.64402	D	0.000002	D	0.95781	0.8627	L	0.57536	1.79	0.58432	D	0.999996	P;P	0.44429	0.835;0.835	P;P	0.45639	0.488;0.488	D	0.95110	0.8237	10	0.36615	T	0.2	-24.8916	18.4905	0.90844	0.0:1.0:0.0:0.0	.	170;170	B6ECG9;P61296	.;HAND2_HUMAN	K	170;139;118	ENSP00000352565:E170K	ENSP00000352565:E170K	E	-	1	0	HAND2	174686508	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.795000	0.62489	2.587000	0.87381	0.561000	0.74099	GAG		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			9	34	0	0	0	0	9	34				
CDH6	1004	broad.mit.edu	37	5	31297509	31297509	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:31297509G>A	ENST00000265071.2	+	4	902	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CDH6_ENST00000514738.1_Missense_Mutation_p.E158K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTTGAATCAGAAACAGGTTA	0.348																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(637-639)GAA>AAA		cadherin 6, type 2 preproprotein							109.0	100.0	103.0					5																	31297509		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31297509G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.637G>A	5.37:g.31297509G>A	ENSP00000265071:p.Glu213Lys					CDH6_uc003jhd.1_Missense_Mutation_p.E213K	p.E213K	NM_004932	NP_004923	P55285	CADH6_HUMAN			4	963	+			213			Extracellular (Potential).|Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.637G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995526	0.19043	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52983	0.64;0.64	5.28	5.28	0.74379	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.10945	0.07	0.58432	D	0.999999	D;P	0.59357	0.985;0.94	P;P	0.57720	0.826;0.712	T	0.18398	-1.0338	10	0.02654	T	1	.	19.2751	0.94029	0.0:0.0:1.0:0.0	.	213;213	P55285;P55285-2	CADH6_HUMAN;.	K	158;213	ENSP00000424843:E158K;ENSP00000265071:E213K	ENSP00000265071:E213K	E	+	1	0	CDH6	31333266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.553000	0.67287	2.644000	0.89710	0.655000	0.94253	GAA		0.348	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		10	46	0	0	0	0	10	46				
PTGER4	5734	broad.mit.edu	37	5	40681496	40681496	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:40681496G>C	ENST00000302472.3	+	2	1425	c.401G>C	c.(400-402)cGa>cCa	p.R134P	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	134					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GTGGACAAGCGATTGGCGGGC	0.587											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.2		NA																	0				lung(2)	2						c.(400-402)CGA>CCA		prostaglandin E receptor 4, subtype EP4							134.0	134.0	134.0					5																	40681496		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681496G>C	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.401G>C	5.37:g.40681496G>C	ENSP00000302846:p.Arg134Pro		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.R134P	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	993	+			134			Cytoplasmic (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.401G>C	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159514	0.57368	.	.	ENSG00000171522	ENST00000302472	T	0.43294	0.95	5.42	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.113453	0.64402	D	0.000015	T	0.42675	0.1213	M	0.80616	2.505	0.41489	D	0.98821	B	0.25719	0.132	B	0.30782	0.12	T	0.55579	-0.8119	10	0.72032	D	0.01	-22.0085	3.5336	0.07786	0.3635:0.0:0.6365:0.0	.	134	P35408	PE2R4_HUMAN	P	134	ENSP00000302846:R134P	ENSP00000302846:R134P	R	+	2	0	PTGER4	40717253	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.284000	0.51708	2.552000	0.86080	0.561000	0.74099	CGA		0.587	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		22	127	0	0	0	0	22	127				
C5orf34	375444	broad.mit.edu	37	5	43503812	43503812	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:43503812T>G	ENST00000306862.2	-	5	1358	c.983A>C	c.(982-984)tAt>tCt	p.Y328S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	328										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAGTTCAGGATAGGAATATTC	0.353																																						uc003jnz.1		NA																	0				breast(1)	1						c.(982-984)TAT>TCT		hypothetical protein LOC375444							169.0	167.0	168.0					5																	43503812		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43503812T>G	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.983A>C	5.37:g.43503812T>G	ENSP00000303490:p.Tyr328Ser						p.Y328S	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			6	1300	-	Lung NSC(6;2.07e-05)		328						Missense_Mutation	SNP	ENST00000306862.2	37	c.983A>C	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421510	0.62622	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.44482	0.92	5.52	4.37	0.52481	.	0.293241	0.29846	N	0.011044	T	0.52108	0.1714	M	0.70595	2.14	0.34223	D	0.67566	D	0.67145	0.996	P	0.59948	0.866	T	0.62699	-0.6799	10	0.31617	T	0.26	-15.551	5.4823	0.16731	0.1542:0.0824:0.0:0.7634	.	328	Q96MH7	CE034_HUMAN	S	328;214	ENSP00000303490:Y328S	ENSP00000303490:Y328S	Y	-	2	0	C5orf34	43539569	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.476000	0.35420	2.100000	0.63781	0.533000	0.62120	TAT		0.353	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		26	112	0	0	0	0	26	112				
PIK3R1	5295	broad.mit.edu	37	5	67589592	67589592	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:67589592A>G	ENST00000521381.1	+	11	1971	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	PIK3R1_ENST00000396611.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000336483.5_Missense_Mutation_p.Y182C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Y452C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Y452C|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Y89C|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Y152C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	452					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G446_Y452>VI(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.0?(1)|p.E451_Y452del(1)|p.N453_T454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTACATGAATATAACACTCAG	0.279			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NA		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		6	Complex - deletion inframe(2)|Insertion - In frame(1)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.D434_Q475del(2)|p.G446_Y452>VI(1)|p.E451_Y452del(1)|p.?(1)|p.Y452_Q455>SGGSRIK(1)	upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1354-1356)TAT>TGT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						42.0	47.0	45.0					5																	67589592		2184	4268	6452	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589592A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1355A>G	5.37:g.67589592A>G	ENSP00000428056:p.Tyr452Cys	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.Y452C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y152C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y182C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y131C|PIK3R1_uc011crb.1_Missense_Mutation_p.Y122C	p.Y452C	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1915	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	452					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1355A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350098	0.82132	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;T;T;T;T;D	0.81739	-0.43;-0.43;-0.31;-0.43;-1.44;0.91;-1.44;0.48;-1.53	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.68593	2.085	0.80722	D	1	B;B;B;D	0.89917	0.055;0.103;0.103;1.0	B;B;B;D	0.70716	0.012;0.047;0.048;0.97	D	0.87830	0.2644	10	0.46703	T	0.11	-14.5071	15.3459	0.74337	1.0:0.0:0.0:0.0	.	122;182;152;452	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	C	452;452;452;452;152;89;182;125;89	ENSP00000428056:Y452C;ENSP00000429277:Y452C;ENSP00000379855:Y452C;ENSP00000274335:Y452C;ENSP00000323512:Y152C;ENSP00000431058:Y89C;ENSP00000338554:Y182C;ENSP00000429156:Y125C;ENSP00000430098:Y89C	ENSP00000274335:Y452C	Y	+	2	0	PIK3R1	67625348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.277000	0.76020	0.528000	0.53228	TAT		0.279	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		19	45	0	0	0	0	19	45				
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:88057031C>T	ENST00000437473.2	-	4	790	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125N|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125N|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125N|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125N|MEF2C_ENST00000504921.2_Missense_Mutation_p.D125N|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125N|MEF2C_ENST00000424173.2_Intron	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453										HNSCC(66;0.2)																												uc003kjj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(373-375)GAT>AAT		myocyte enhancer factor 2C isoform 1							173.0	169.0	170.0					5																	88057031		1901	4120	6021	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88057031C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.373G>A	5.37:g.88057031C>T	ENSP00000396219:p.Asp125Asn	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.D125N|MEF2C_uc003kjk.2_Missense_Mutation_p.D125N|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron	p.D125N	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	4	1046	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	125					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.373G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605064	0.96626	.	.	ENSG00000081189	ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000502983;ENST00000508610	T;T;T;T;T;T;T;D;D	0.87729	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-2.29;-2.21	5.79	5.79	0.91817	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.94406	0.7627	10	0.87932	D	0	.	20.0235	0.97511	0.0:1.0:0.0:0.0	.	125;125	Q06413;Q06413-2	MEF2C_HUMAN;.	N	125	ENSP00000421925:D125N;ENSP00000426665:D125N;ENSP00000396219:D125N;ENSP00000422390:D125N;ENSP00000425636:D125N;ENSP00000423597:D125N;ENSP00000424606:D125N;ENSP00000427163:D125N;ENSP00000426442:D125N	ENSP00000396219:D125N	D	-	1	0	MEF2C	88092787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.727000	0.93392	0.563000	0.77884	GAT		0.453	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		28	92	0	0	0	0	28	92				
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T	rs370325414		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552																																						uc003ltl.1		NA																	1	Substitution - Missense(1)	p.R231Q(1)	ovary(1)		0						c.(691-693)CGA>CAA		annexin VI isoform 1		C	GLN/ARG,GLN/ARG	2,3832		0,2,1915	50.0	52.0	51.0		692,596	5.3	1.0	5		51	0,8256		0,0,4128	no	missense,missense	ANXA6	NM_001155.4,NM_001193544.1	43,43	0,2,6043	TT,TC,CC		0.0,0.0522,0.0165	possibly-damaging,possibly-damaging	231/674,199/642	150512081	2,12088	1917	4128	6045	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512081C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.692G>A	5.37:g.150512081C>T	ENSP00000346550:p.Arg231Gln					ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	p.R231Q	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	844	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	231			Annexin 3.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.692G>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792333	0.70452	5.22E-4	0.0	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03094	4.05;4.05;4.05	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.269315	0.37715	N	0.001970	T	0.02119	0.0066	N	0.05158	-0.105	0.43734	D	0.996229	P;D	0.53312	0.912;0.959	B;B	0.34489	0.089;0.184	T	0.63686	-0.6581	10	0.51188	T	0.08	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	231;231	A6NN80;P08133	.;ANXA6_HUMAN	Q	231;199;231;105	ENSP00000346550:R231Q;ENSP00000430517:R199Q;ENSP00000348889:R231Q	ENSP00000346550:R231Q	R	-	2	0	ANXA6	150492274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.008000	0.57103	2.487000	0.83934	0.650000	0.86243	CGA		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	15	0	0	0	0	7	15				
FOXQ1	94234	broad.mit.edu	37	6	1313378	1313378	+	Missense_Mutation	SNP	G	G	A	rs566840319		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:1313378G>A	ENST00000296839.2	+	1	704	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	147					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGAGATCAACGAGTACCTCAT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		6111	0.0		0.001	False		,,,				2504	0.0					uc003mtl.3		NA																	0					0						c.(439-441)GAG>AAG		forkhead box Q1							33.0	34.0	34.0					6																	1313378		2197	4290	6487	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313378G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.439G>A	6.37:g.1313378G>A	ENSP00000296839:p.Glu147Lys						p.E147K	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	704	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	147			Fork-head.		Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.439G>A	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781734	0.49891	.	.	ENSG00000164379	ENST00000296839	D	0.95307	-3.67	3.87	0.868	0.19090	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.146267	0.43416	U	0.000576	T	0.82019	0.4946	N	0.14661	0.345	0.33222	D	0.55483	P	0.50369	0.934	P	0.45856	0.495	T	0.79463	-0.1793	10	0.62326	D	0.03	.	7.3274	0.26563	0.0962:0.3253:0.5785:0.0	.	147	Q9C009	FOXQ1_HUMAN	K	147	ENSP00000296839:E147K	ENSP00000296839:E147K	E	+	1	0	FOXQ1	1258378	0.951000	0.32395	0.998000	0.56505	0.333000	0.28666	0.016000	0.13377	0.125000	0.18397	0.184000	0.17185	GAG		0.637	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		8	38	0	0	0	0	8	38				
MCUR1	63933	broad.mit.edu	37	6	13792146	13792146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:13792146C>G	ENST00000379170.4	-	8	1126	c.988G>C	c.(988-990)Gag>Cag	p.E330Q		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	330					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											TTGTGTGACTCAAGCATGGTT	0.363																																						uc003nbd.2		NA																	0					0						c.(988-990)GAG>CAG		coiled-coil domain containing 90A precursor							112.0	92.0	98.0					6																	13792146		2203	4300	6503	SO:0001583	missense	63933					integral to membrane|mitochondrion		g.chr6:13792146C>G	BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.988G>C	6.37:g.13792146C>G	ENSP00000368468:p.Glu330Gln					uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA	p.E330Q	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN			8	1116	-	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)	330					Q96JS7|Q9H7F8	Missense_Mutation	SNP	ENST00000379170.4	37	c.988G>C	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217190	0.79352	.	.	ENSG00000050393	ENST00000379170	T	0.57595	0.39	5.52	4.65	0.58169	.	0.100955	0.64402	D	0.000003	T	0.64594	0.2612	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69202	-0.5207	10	0.51188	T	0.08	-18.3592	13.4725	0.61288	0.0:0.9234:0.0:0.0766	.	330	Q96AQ8	CC90A_HUMAN	Q	330	ENSP00000368468:E330Q	ENSP00000368468:E330Q	E	-	1	0	CCDC90A	13900125	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	6.649000	0.74364	1.334000	0.45468	0.655000	0.94253	GAG		0.363	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102		14	59	0	0	0	0	14	59				
EHMT2	10919	broad.mit.edu	37	6	31855970	31855970	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:31855970G>C	ENST00000375537.4	-	13	1599	c.1593C>G	c.(1591-1593)gtC>gtG	p.V531V	EHMT2_ENST00000375528.4_Silent_p.V554V|EHMT2_ENST00000395728.3_Silent_p.V588V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.V497V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	531					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGACAGAAGACCATCCCAT	0.642																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(1591-1593)GTC>GTG		euchromatic histone-lysine N-methyltransferase 2							69.0	65.0	67.0					6																	31855970		1508	2709	4217	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31855970G>C	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1593C>G	6.37:g.31855970G>C						EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V322V|EHMT2_uc011don.1_Silent_p.V554V|EHMT2_uc003nya.1_Silent_p.V497V	p.V531V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			13	1603	-			531					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.1593C>G	CCDS4725.1																																																																																				0.642	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		25	36	0	0	0	0	25	36				
SIM1	6492	broad.mit.edu	37	6	100841664	100841664	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:100841664G>A	ENST00000369208.3	-	11	2051	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	SIM1_ENST00000262901.4_Silent_p.A423A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	423	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1267-1269)GCC>GCT		single-minded homolog 1							52.0	50.0	51.0					6																	100841664		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841664G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1269C>T	6.37:g.100841664G>A						SIM1_uc010kcu.2_Silent_p.A423A	p.A423A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1476	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	423			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1269C>T	CCDS5045.1																																																																																				0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		26	36	0	0	0	0	26	36				
FYN	2534	broad.mit.edu	37	6	112017481	112017481	+	Splice_Site	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:112017481T>A	ENST00000354650.3	-	10	1647	c.1041A>T	c.(1039-1041)aaA>aaT	p.K347N	FYN_ENST00000368678.4_Splice_Site_p.K344N|FYN_ENST00000229471.4_Splice_Site_p.K292N|FYN_ENST00000368667.2_Splice_Site_p.K347N|FYN_ENST00000368682.3_Splice_Site_p.K344N|FYN_ENST00000356013.2_Splice_Site_p.K292N|FYN_ENST00000229470.5_Splice_Site_p.K295N|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000538466.1_Splice_Site_p.K344N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTGCCCAACCTTTGTTCATAT	0.488																																						uc003pvj.2		NA																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(1039-1041)AAA>AAT		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						176.0	144.0	155.0					6																	112017481		2203	4300	6503	SO:0001630	splice_region_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112017481T>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1042+1A>T	6.37:g.112017481T>A						FYN_uc003pvi.2_Missense_Mutation_p.K292N|FYN_uc003pvk.2_Missense_Mutation_p.K347N|FYN_uc003pvh.2_Missense_Mutation_p.K344N|FYN_uc010kdy.1_Intron	p.K347N	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	1381	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	347			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1041A>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635417	0.47049	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051322	0.85682	D	0.000000	T	0.01695	0.0054	N	0.01771	-0.73	0.80722	D	1	B;B;B	0.17268	0.002;0.001;0.021	B;B;B	0.16722	0.004;0.004;0.016	T	0.47686	-0.9098	10	0.13853	T	0.58	.	15.888	0.79269	0.0:0.0:0.0:1.0	.	347;292;344	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	344;347;292;347;344;295;292;344;295	ENSP00000357671:K344N;ENSP00000346671:K347N;ENSP00000229471:K292N;ENSP00000357656:K347N;ENSP00000357667:K344N;ENSP00000229470:K295N;ENSP00000348295:K292N;ENSP00000440646:K344N	ENSP00000229470:K295N	K	-	3	2	FYN	112124174	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.186000	0.72026	2.147000	0.66899	0.533000	0.62120	AAA		0.488	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		Missense_Mutation	37	77	0	0	0	0	37	77				
MED23	9439	broad.mit.edu	37	6	131917142	131917142	+	Silent	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:131917142T>C	ENST00000368068.3	-	22	3119	c.2940A>G	c.(2938-2940)gtA>gtG	p.V980V	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.V986V|MED23_ENST00000368060.3_Silent_p.V980V|MED23_ENST00000354577.4_Silent_p.V986V|MED23_ENST00000403834.3_Silent_p.V986V|MED23_ENST00000545957.1_Silent_p.V621V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	980					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTGATTTGGATACCGGAAGCA	0.378																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2938-2940)GTA>GTG		mediator complex subunit 23 isoform a							89.0	96.0	93.0					6																	131917142		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917142T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2940A>G	6.37:g.131917142T>C						MED23_uc003qcq.2_Silent_p.V986V|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.V621V	p.V980V	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	22	3114	-	Breast(56;0.0753)		980					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.2940A>G	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			3	123	0	0	0	0	3	123				
MMD2	221938	broad.mit.edu	37	7	4947088	4947088	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:4947088T>C	ENST00000404774.3	-	7	946	c.752A>G	c.(751-753)tAc>tGc	p.Y251C	MMD2_ENST00000401401.3_Missense_Mutation_p.Y227C|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	251						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GATGGCATAGTAGTGGGTACC	0.537																																						uc003sno.3		NA																	0				central_nervous_system(1)	1						c.(751-753)TAC>TGC		monocyte to macrophage							105.0	106.0	106.0					7																	4947088		2038	4182	6220	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947088T>C	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.752A>G	7.37:g.4947088T>C	ENSP00000384690:p.Tyr251Cys					MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.Y227C|MMD2_uc010ksq.2_3'UTR	p.Y251C	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	948	-		Ovarian(82;0.0175)	251			Helical; (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.752A>G	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475798	0.84640	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	T;T	0.36878	1.23;1.23	5.53	5.53	0.82687	.	0.156215	0.44285	D	0.000474	T	0.64638	0.2616	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.71159	-0.4674	10	0.87932	D	0	-35.5657	14.9076	0.70733	0.0:0.0:0.0:1.0	.	251;227	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	C	251;227	ENSP00000384690:Y251C;ENSP00000384141:Y227C	ENSP00000384141:Y227C	Y	-	2	0	MMD2	4913614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.111000	0.64477	0.529000	0.55759	TAC		0.537	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		11	100	0	0	0	0	11	100				
WIPF3	644150	broad.mit.edu	37	7	29918639	29918639	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:29918639A>T	ENST00000409290.1	+	3	238	c.238A>T	c.(238-240)Aac>Tac	p.N80Y	WIPF3_ENST00000242140.5_Missense_Mutation_p.N80Y|WIPF3_ENST00000409123.1_Missense_Mutation_p.N80Y	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	80					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TAAAGGAACCAACAAAGAAGG	0.517																																						uc003taj.1		NA																	0				ovary(1)	1						c.(238-240)AAC>TAC		WAS/WASL interacting protein family, member 3							50.0	52.0	52.0					7																	29918639		1966	4153	6119	SO:0001583	missense	644150							g.chr7:29918639A>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.238A>T	7.37:g.29918639A>T	ENSP00000386878:p.Asn80Tyr						p.N80Y	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			3	238	+			80					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.238A>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040348	0.55003	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.51071	0.73;0.72;0.73	5.5	5.5	0.81552	.	0.528567	0.19009	N	0.125133	T	0.48995	0.1531	L	0.50333	1.59	0.25964	N	0.982586	P	0.51791	0.948	P	0.47470	0.548	T	0.50742	-0.8792	10	0.59425	D	0.04	.	11.9218	0.52795	1.0:0.0:0.0:0.0	.	80	A6NGB9	WIPF3_HUMAN	Y	80	ENSP00000386790:N80Y;ENSP00000386878:N80Y;ENSP00000242140:N80Y	ENSP00000242140:N80Y	N	+	1	0	WIPF3	29885164	0.635000	0.27199	0.968000	0.41197	0.951000	0.60555	5.011000	0.64011	2.310000	0.77875	0.450000	0.29827	AAC		0.517	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			4	15	0	0	0	0	4	15				
TRGC1	6966	broad.mit.edu	37	7	38299801	38299801	+	RNA	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:38299801G>C	ENST00000443402.2	-	0	408					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GTAATATGCAGAGGTGTTTGT	0.423																																						uc003tge.1		NA																	0					0						c.(835-837)TCT>TGT		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							148.0	169.0	162.0					7																	38299801		1984	4199	6183			445347							g.chr7:38299801G>C	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299801G>C						uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S75C|TARP_uc003tgc.1_Missense_Mutation_p.S75C|TARP_uc003tgd.1_Missense_Mutation_p.S75C	p.S279C			A2JGV3	A2JGV3_HUMAN			7	1213	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.836C>G																																																																																					0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		9	58	0	0	0	0	9	58				
ZNF713	349075	broad.mit.edu	37	7	55980391	55980391	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:55980391A>T	ENST00000429591.2	+	1	61	c.23A>T	c.(22-24)gAt>gTt	p.D8V	MRPS17_ENST00000426595.1_Missense_Mutation_p.D8V|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAATGAATGATGGCTCACAG	0.408																																						uc003trc.1		NA																	0				ovary(2)	2						c.(22-24)GAT>GTT		zinc finger protein 713							136.0	131.0	133.0					7																	55980391		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55980391A>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.23A>T	7.37:g.55980391A>T	ENSP00000416662:p.Asp8Val					ZNF713_uc003tra.1_Missense_Mutation_p.D21V|MRPS17_uc003trb.2_Missense_Mutation_p.D8V	p.D8V	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		1	61	+	Breast(14;0.214)		8						Missense_Mutation	SNP	ENST00000429591.2	37	c.23A>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	A	9.372	1.070820	0.20147	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	T;T	0.06142	5.65;3.34	2.62	1.44	0.22558	.	.	.	.	.	T	0.02418	0.0074	N	0.03000	-0.44	0.39961	D	0.974664	B	0.06786	0.001	B	0.01281	0.0	T	0.45920	-0.9228	9	0.36615	T	0.2	.	4.7484	0.13049	0.6855:0.0:0.0:0.3145	.	8	Q8N859	ZN713_HUMAN	V	8	ENSP00000390331:D8V;ENSP00000416662:D8V	ENSP00000390331:D8V	D	+	2	0	RP11-15K19.2;ZNF713	55947885	0.017000	0.18338	0.850000	0.33497	0.917000	0.54804	-0.097000	0.11042	0.412000	0.25729	0.460000	0.39030	GAT		0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		15	18	0	0	0	0	15	18				
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:73771712G>A	ENST00000395060.1	+	5	1120	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CLIP2_ENST00000223398.6_Missense_Mutation_p.E374K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E374K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGCTGGCTGAACGAGACCT	0.612																																						uc003uam.2		NA																	0				skin(3)	3						c.(1120-1122)GAA>AAA		CAP-GLY domain containing linker protein 2							53.0	36.0	42.0					7																	73771712		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73771712G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1120G>A	7.37:g.73771712G>A	ENSP00000378500:p.Glu374Lys					CLIP2_uc003uan.2_Missense_Mutation_p.E374K	p.E374K	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			6	1447	+			374			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.1120G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062332	0.93898	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.70869	-0.52;-0.51;-0.52	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.85945	2.785	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.87660	0.2534	10	0.66056	D	0.02	-26.0325	16.6549	0.85225	0.0:0.0:1.0:0.0	.	374;374	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	K	374	ENSP00000223398:E374K;ENSP00000355151:E374K;ENSP00000378500:E374K	ENSP00000223398:E374K	E	+	1	0	CLIP2	73409648	1.000000	0.71417	0.819000	0.32651	0.804000	0.45430	9.337000	0.96545	2.507000	0.84556	0.561000	0.74099	GAA		0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		5	17	0	0	0	0	5	17				
KLHDC10	23008	broad.mit.edu	37	7	129756398	129756398	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:129756398G>A	ENST00000335420.5	+	3	501	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	123						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCTGATAATGAAGACTATCC	0.478																																						uc003vpj.1		NA																	0					0						c.(367-369)GAA>AAA		kelch domain containing 10							153.0	135.0	141.0					7																	129756398		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129756398G>A		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.367G>A	7.37:g.129756398G>A	ENSP00000334140:p.Glu123Lys					KLHDC10_uc003vpk.1_Missense_Mutation_p.E94K|KLHDC10_uc010lmb.1_Intron	p.E123K	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			3	502	+			123			Kelch 1.		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.367G>A	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156165	0.94686	.	.	ENSG00000128607	ENST00000335420;ENST00000463413	T;D	0.94138	3.42;-3.36	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95604	0.8571	M	0.71206	2.165	0.80722	D	1	D	0.57257	0.979	P	0.60173	0.87	D	0.93651	0.6973	10	0.22109	T	0.4	-21.1044	18.8092	0.92052	0.0:0.0:1.0:0.0	.	123	Q6PID8	KLD10_HUMAN	K	123;94	ENSP00000334140:E123K;ENSP00000420083:E94K	ENSP00000334140:E123K	E	+	1	0	KLHDC10	129543634	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	GAA		0.478	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			17	117	0	0	0	0	17	117				
MKLN1	4289	broad.mit.edu	37	7	131012684	131012684	+	Missense_Mutation	SNP	C	C	G	rs200265321		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131012684C>G	ENST00000352689.6	+	1	66	c.26C>G	c.(25-27)gCg>gGg	p.A9G	MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	9					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCTGTCGCTGCGGCGCCCGAG	0.682																																						uc011kpm.1		NA																	0				breast(1)	1						c.(25-27)GCG>GGG		muskelin 1, intracellular mediator containing							27.0	29.0	29.0					7																	131012684		2192	4278	6470	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012684C>G	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.26C>G	7.37:g.131012684C>G	ENSP00000323527:p.Ala9Gly					MKLN1_uc011kpl.1_Intron|MKLN1_uc010lmh.2_Missense_Mutation_p.A9G|MKLN1_uc003vqs.2_5'UTR|uc003vqr.1_5'Flank	p.A9G	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			1	90	+	Melanoma(18;0.162)		9					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.26C>G	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955674	0.53293	.	.	ENSG00000128585	ENST00000352689	T	0.45668	0.89	4.27	1.25	0.21368	Galactose-binding domain-like (1);	0.462575	0.25159	N	0.032699	T	0.18882	0.0453	N	0.08118	0	0.31637	N	0.648306	B	0.15473	0.013	B	0.09377	0.004	T	0.07501	-1.0769	10	0.40728	T	0.16	0.0606	5.4979	0.16813	0.3446:0.557:0.0:0.0984	.	9	Q9UL63	MKLN1_HUMAN	G	9	ENSP00000323527:A9G	ENSP00000323527:A9G	A	+	2	0	MKLN1	130663224	0.998000	0.40836	0.987000	0.45799	0.995000	0.86356	0.147000	0.16202	0.013000	0.14918	0.561000	0.74099	GCG		0.682	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		7	27	0	0	0	0	7	27				
ZC3HAV1	56829	broad.mit.edu	37	7	138764670	138764670	+	Silent	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:138764670G>C	ENST00000242351.5	-	4	1333	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	ZC3HAV1_ENST00000464606.1_Silent_p.L339L|ZC3HAV1_ENST00000471652.1_Silent_p.L339L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	339					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|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 mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCCATGCAAGAGGTCCTCTT	0.552																																						uc003vun.2		NA																	0				ovary(1)	1						c.(1015-1017)CTC>CTG		zinc finger antiviral protein isoform 1							96.0	93.0	94.0					7																	138764670		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764670G>C	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1017C>G	7.37:g.138764670G>C						ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L339L	p.L339L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1405	-			339					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.1017C>G	CCDS5851.1																																																																																				0.552	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		24	113	0	0	0	0	24	113				
KDM7A	80853	broad.mit.edu	37	7	139833366	139833366	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:139833366T>A	ENST00000397560.2	-	3	468	c.371A>T	c.(370-372)aAg>aTg	p.K124M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.K124M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		124					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCGTAATTCCTTAATGAAAGT	0.368																																						uc003vvm.2		NA																	0				ovary(1)	1						c.(370-372)AAG>ATG		jumonji C domain containing histone demethylase							131.0	122.0	125.0					7																	139833366		1860	4090	5950	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139833366T>A																												ENST00000397560.2:c.371A>T	7.37:g.139833366T>A	ENSP00000380692:p.Lys124Met						p.K124M	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			3	375	-	Melanoma(164;0.0142)		124					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.371A>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938764	0.73557	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.17370	2.52;2.28	5.31	1.47	0.22746	.	0.221958	0.46758	D	0.000271	T	0.23094	0.0558	M	0.72118	2.19	0.53688	D	0.999976	B	0.33777	0.425	B	0.42282	0.382	T	0.02588	-1.1137	10	0.87932	D	0	-5.265	6.6585	0.23000	0.0:0.1406:0.1388:0.7206	.	124	Q6ZMT4	KDM7_HUMAN	M	124	ENSP00000380692:K124M;ENSP00000006967:K124M	ENSP00000006967:K124M	K	-	2	0	JHDM1D	139479835	0.294000	0.24380	0.496000	0.27539	0.980000	0.70556	0.692000	0.25482	0.061000	0.16311	0.528000	0.53228	AAG		0.368	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			11	63	0	0	0	0	11	63				
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:141795497C>T	ENST00000549489.2	+	41	4998	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000475668.2_Missense_Mutation_p.R2531W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(4903-4905)CGG>TGG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						194.0	178.0	184.0					7																	141795497		1977	4152	6129	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141795497C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4903C>T	7.37:g.141795497C>T	ENSP00000447378:p.Arg1635Trp						p.R1635W	NM_004668	NP_004659	O43451	MGA_HUMAN			41	4957	+	Melanoma(164;0.0272)		1635			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4903C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463792	0.43736	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.95001	-3.58	5.57	2.69	0.31865	.	.	.	.	.	D	0.98592	0.9529	H	0.99634	4.67	0.32045	N	0.597744	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	9	0.87932	D	0	.	14.247	0.65995	0.3859:0.6141:0.0:0.0	.	1635	O43451	MGA_HUMAN	W	1635;2532	ENSP00000447378:R1635W	ENSP00000373973:R1635W	R	+	1	2	MGAM	141441966	0.998000	0.40836	0.981000	0.43875	0.153000	0.21895	3.886000	0.56190	0.347000	0.23924	-0.169000	0.13324	CGG		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			71	159	0	0	0	0	71	159				
CNTNAP2	26047	broad.mit.edu	37	7	147674977	147674977	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:147674977C>T	ENST00000361727.3	+	15	2795	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	760	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTTTCTTATCATACAAAGAT	0.473										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2278-2280)TCA>TTA		cell recognition molecule Caspr2 precursor							140.0	130.0	134.0					7																	147674977		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147674977C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2279C>T	7.37:g.147674977C>T	ENSP00000354778:p.Ser760Leu	HNSCC(39;0.1)					p.S760L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		15	2795	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	760			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2279C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805895	0.31961	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.12255	2.7;2.7	5.39	5.39	0.77823	.	0.602490	0.17353	N	0.177337	T	0.20292	0.0488	L	0.61218	1.895	0.80722	D	1	B	0.25521	0.128	B	0.25614	0.062	T	0.02037	-1.1225	10	0.59425	D	0.04	.	17.7395	0.88404	0.0:1.0:0.0:0.0	.	760	Q9UHC6	CNTP2_HUMAN	L	760;151	ENSP00000354778:S760L;ENSP00000392208:S151L	ENSP00000354778:S760L	S	+	2	0	CNTNAP2	147305910	0.813000	0.29090	0.981000	0.43875	0.440000	0.31957	1.688000	0.37690	2.530000	0.85305	0.655000	0.94253	TCA		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			29	67	0	0	0	0	29	67				
C8orf22	492307	broad.mit.edu	37	8	49986796	49986796	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:49986796T>C	ENST00000303202.8	+	4	310	c.137T>C	c.(136-138)tTg>tCg	p.L46S	C8orf22_ENST00000399653.4_Missense_Mutation_p.L46S|C8orf22_ENST00000517663.1_Missense_Mutation_p.L46S|C8orf22_ENST00000522267.1_Missense_Mutation_p.L46S	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTAATAGGGTTGCCTGAAGTG	0.333																																						uc003xqq.3		NA																	0					0						c.(136-138)TTG>TCG		hypothetical protein LOC492307							75.0	70.0	71.0					8																	49986796		1822	4073	5895	SO:0001583	missense	492307							g.chr8:49986796T>C	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.137T>C	8.37:g.49986796T>C	ENSP00000304926:p.Leu46Ser						p.L46S	NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN			4	320	+		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	46					G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	c.137T>C	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579650	0.46006	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.22	4.22	0.49857	.	0.201708	0.24048	U	0.042026	T	0.52141	0.1716	.	.	.	0.09310	N	1	D	0.57899	0.981	P	0.58391	0.838	T	0.42155	-0.9468	7	.	.	.	-7.3741	9.7011	0.40187	0.0:0.0:0.0:1.0	.	46	Q8WWR9-2	.	S	46	.	.	L	+	2	0	C8orf22	50149349	0.025000	0.19082	0.137000	0.22149	0.768000	0.43524	0.394000	0.20834	1.548000	0.49413	0.460000	0.39030	TTG		0.333	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		6	96	0	0	0	0	6	96				
RGS20	8601	broad.mit.edu	37	8	54866744	54866744	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:54866744C>A	ENST00000297313.3	+	5	944	c.852C>A	c.(850-852)ttC>ttA	p.F284L	RGS20_ENST00000522225.1_Missense_Mutation_p.F18L|RGS20_ENST00000344277.6_Missense_Mutation_p.F169L|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.F137L	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	284	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAACAGAATTCAGTGAGGAAA	0.413																																						uc003xrp.2		NA																	0				ovary(1)	1						c.(850-852)TTC>TTA		regulator of G-protein signaling 20 isoform a							76.0	76.0	76.0					8																	54866744		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54866744C>A	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.852C>A	8.37:g.54866744C>A	ENSP00000297313:p.Phe284Leu					RGS20_uc003xrq.2_Missense_Mutation_p.F169L|RGS20_uc010lye.2_Missense_Mutation_p.F76L|RGS20_uc010lyf.2_Missense_Mutation_p.F48L|RGS20_uc003xrs.2_Missense_Mutation_p.F137L|RGS20_uc003xrt.2_Missense_Mutation_p.F18L	p.F284L	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		5	944	+			284			RGS.		Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.852C>A	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227561	0.58668	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.78	2.96	0.34315	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.82716	2.605	0.51012	D	0.999902	B;B;B;B;B	0.33549	0.014;0.22;0.364;0.364;0.417	B;B;B;B;P	0.45276	0.02;0.086;0.236;0.343;0.475	T	0.37798	-0.9690	10	0.87932	D	0	.	6.2917	0.21063	0.149:0.6981:0.0:0.1528	.	48;76;137;169;284	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	L	284;169;18;137	ENSP00000297313:F284L;ENSP00000344630:F169L;ENSP00000430627:F18L;ENSP00000276500:F137L	ENSP00000276500:F137L	F	+	3	2	RGS20	55029297	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.699000	0.47077	0.525000	0.28522	0.563000	0.77884	TTC		0.413	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			17	99	1	0	2e-07	2.14e-07	17	99				
PMP2	5375	broad.mit.edu	37	8	82357103	82357103	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:82357103G>C	ENST00000256103.2	-	2	331	c.195C>G	c.(193-195)ttC>ttG	p.F65L	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	65					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GGCCTAGCTTGAAGGAGATTT	0.393																																						uc003ycb.1		NA																	0					0						c.(193-195)TTC>TTG		peripheral myelin protein 2							136.0	134.0	135.0					8																	82357103		2203	4300	6503	SO:0001583	missense	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82357103G>C	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.195C>G	8.37:g.82357103G>C	ENSP00000256103:p.Phe65Leu					PMP2_uc010lzv.1_Intron	p.F65L	NM_002677	NP_002668	P02689	MYP2_HUMAN	Epithelial(68;0.186)		2	293	-			65					Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	c.195C>G	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108207	0.77096	.	.	ENSG00000147588	ENST00000256103	T	0.56941	0.43	5.68	4.62	0.57501	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83567	0.0110	10	0.87932	D	0	.	10.2661	0.43455	0.2027:0.0:0.7973:0.0	.	65	P02689	MYP2_HUMAN	L	65	ENSP00000256103:F65L	ENSP00000256103:F65L	F	-	3	2	PMP2	82519658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.939000	0.48995	2.678000	0.91216	0.585000	0.79938	TTC		0.393	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		17	101	0	0	0	0	17	101				
NBN	4683	broad.mit.edu	37	8	90955524	90955524	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:90955524C>T	ENST00000265433.3	-	14	2295	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	NBN_ENST00000409330.1_Missense_Mutation_p.R632Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	714					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.R714L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398								Homologous recombination																														uc003yej.1		NA																	1	Substitution - Missense(1)		prostate(1)	central_nervous_system(3)|kidney(3)|lung(1)	7						c.(2140-2142)CGA>CAA	Direct_reversal_of_damage|Homologous_recombination	nibrin							176.0	159.0	164.0					8																	90955524		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955524C>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2141G>A	8.37:g.90955524C>T	ENSP00000265433:p.Arg714Gln					NBN_uc003yei.1_Missense_Mutation_p.R632Q|NBN_uc011lgb.1_Missense_Mutation_p.R714Q	p.R714Q	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2251	-			714					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2141G>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088626	0.55968	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.60299	0.22;0.2	5.91	3.0	0.34707	DNA repair Nbs1, C-terminal (1);	0.324291	0.35585	N	0.003114	T	0.42337	0.1198	L	0.41236	1.265	0.27723	N	0.945078	P;P	0.39157	0.662;0.662	B;B	0.32090	0.14;0.14	T	0.35574	-0.9783	10	0.66056	D	0.02	-3.6212	8.6164	0.33833	0.0:0.604:0.0:0.396	.	714;714	A6H8Y5;O60934	.;NBN_HUMAN	Q	714;632	ENSP00000265433:R714Q;ENSP00000386924:R632Q	ENSP00000265433:R714Q	R	-	2	0	NBN	91024700	0.075000	0.21258	0.987000	0.45799	0.988000	0.76386	0.036000	0.13819	0.335000	0.23614	-0.142000	0.14014	CGA		0.398	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		22	167	0	0	0	0	22	167				
KCNS2	3788	broad.mit.edu	37	8	99441238	99441238	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:99441238C>T	ENST00000287042.4	+	2	1381	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KCNS2_ENST00000521839.1_Missense_Mutation_p.S344F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	344					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	0				ovary(1)	1						c.(1030-1032)TCC>TTC		potassium voltage-gated channel,							102.0	89.0	94.0					8																	99441238		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441238C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1031C>T	8.37:g.99441238C>T	ENSP00000287042:p.Ser344Phe						p.S344F	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1381	+	Breast(36;2.4e-06)		344			Helical; Name=Segment S5; (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1031C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694504	0.68386	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97850	-4.57;-4.57	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99191	1.0870	10	0.87932	D	0	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	344	Q9ULS6	KCNS2_HUMAN	F	344	ENSP00000287042:S344F;ENSP00000430712:S344F	ENSP00000287042:S344F	S	+	2	0	KCNS2	99510414	1.000000	0.71417	0.968000	0.41197	0.837000	0.47467	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	TCC		0.582	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		16	91	0	0	0	0	16	91				
COL14A1	7373	broad.mit.edu	37	8	121222028	121222028	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:121222028A>G	ENST00000297848.3	+	12	1625	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.Y357C|COL14A1_ENST00000537875.1_Missense_Mutation_p.Y452C|COL14A1_ENST00000309791.4_Missense_Mutation_p.Y452C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTCTACTGTACGACGTGACT	0.453																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1354-1356)TAC>TGC		collagen, type XIV, alpha 1 precursor							112.0	105.0	107.0					8																	121222028		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121222028A>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1355A>G	8.37:g.121222028A>G	ENSP00000297848:p.Tyr452Cys					COL14A1_uc003yoy.2_Missense_Mutation_p.Y130C|COL14A1_uc010mde.1_Missense_Mutation_p.Y130C	p.Y452C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		12	1620	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		452			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1355A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863178	0.32884	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.31	5.31	0.75309	Fibronectin, type III (4);	0.401058	0.26662	N	0.023152	T	0.70876	0.3274	M	0.74881	2.28	0.43283	D	0.995256	D;D	0.76494	0.999;0.999	D;D	0.68192	0.947;0.956	T	0.71800	-0.4483	10	0.42905	T	0.14	.	15.4391	0.75168	1.0:0.0:0.0:0.0	.	452;452	Q05707-2;Q05707	.;COEA1_HUMAN	C	452;452;452;357;265	ENSP00000443974:Y452C;ENSP00000311809:Y452C;ENSP00000297848:Y452C;ENSP00000247781:Y357C;ENSP00000409461:Y265C	ENSP00000247781:Y357C	Y	+	2	0	COL14A1	121291209	0.996000	0.38824	0.847000	0.33407	0.104000	0.19210	3.436000	0.52856	2.219000	0.72066	0.528000	0.53228	TAC		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		4	124	0	0	0	0	4	124				
FAM91A1	157769	broad.mit.edu	37	8	124810426	124810426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:124810426C>G	ENST00000334705.7	+	16	1754	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S503C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	503										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCTTGTTTCCATGGCTCCC	0.493																																						uc003yqv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1507-1509)TCC>TGC		hypothetical protein LOC157769							108.0	103.0	105.0					8																	124810426		1880	4114	5994	SO:0001583	missense	157769							g.chr8:124810426C>G	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1508C>G	8.37:g.124810426C>G	ENSP00000335082:p.Ser503Cys					FAM91A1_uc011lik.1_Missense_Mutation_p.S503C|FAM91A1_uc011lil.1_Missense_Mutation_p.S261C	p.S503C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		16	1569	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		503					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1508C>G	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436933	0.83885	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.35421	1.31;1.31	5.59	4.71	0.59529	.	0.046199	0.85682	D	0.000000	T	0.63803	0.2542	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.71115	-0.4686	10	0.72032	D	0.01	.	16.2576	0.82525	0.1337:0.8663:0.0:0.0	.	503;503	E7ER68;Q658Y4	.;F91A1_HUMAN	C	503	ENSP00000429491:S503C;ENSP00000335082:S503C	ENSP00000335082:S503C	S	+	2	0	FAM91A1	124879607	1.000000	0.71417	0.973000	0.42090	0.946000	0.59487	7.719000	0.84751	1.479000	0.48272	0.557000	0.71058	TCC		0.493	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		15	179	0	0	0	0	15	179				
PLEC	5339	broad.mit.edu	37	8	144992659	144992659	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:144992659T>A	ENST00000322810.4	-	32	11910	c.11741A>T	c.(11740-11742)gAg>gTg	p.E3914V	PLEC_ENST00000345136.3_Missense_Mutation_p.E3777V|PLEC_ENST00000356346.3_Missense_Mutation_p.E3763V|PLEC_ENST00000398774.2_Missense_Mutation_p.E3745V|PLEC_ENST00000436759.2_Missense_Mutation_p.E3804V|PLEC_ENST00000354589.3_Missense_Mutation_p.E3777V|PLEC_ENST00000357649.2_Missense_Mutation_p.E3781V|PLEC_ENST00000354958.2_Missense_Mutation_p.E3755V|PLEC_ENST00000527096.1_Missense_Mutation_p.E3800V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3914	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGGTCTGCTCGGTGTAGGG	0.682																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11740-11742)GAG>GTG		plectin isoform 1							8.0	11.0	10.0					8																	144992659		2036	4177	6213	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992659T>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11741A>T	8.37:g.144992659T>A	ENSP00000323856:p.Glu3914Val					PLEC_uc003zab.1_Missense_Mutation_p.E3777V|PLEC_uc003zac.1_Missense_Mutation_p.E3781V|PLEC_uc003zad.2_Missense_Mutation_p.E3777V|PLEC_uc003zae.1_Missense_Mutation_p.E3745V|PLEC_uc003zag.1_Missense_Mutation_p.E3755V|PLEC_uc003zah.2_Missense_Mutation_p.E3763V|PLEC_uc003zaj.2_Missense_Mutation_p.E3804V	p.E3914V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11911	-			3914			Globular 2.|Plectin 19.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11741A>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	1.969	-0.437023	0.04636	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	3.92	2.72	0.32119	.	0.091701	0.43110	U	0.000617	T	0.49270	0.1547	N	0.22421	0.69	0.36904	D	0.890576	B;B;B;B;B;B;B;B	0.25312	0.123;0.123;0.123;0.075;0.123;0.123;0.123;0.123	B;B;B;B;B;B;B;B	0.22152	0.038;0.038;0.038;0.017;0.038;0.038;0.038;0.038	T	0.52388	-0.8582	10	0.66056	D	0.02	.	8.8764	0.35348	0.168:0.0:0.0:0.832	.	3804;3763;3755;3914;3745;3777;3781;3777	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3777;3781;3777;3745;3914;3755;3763;3804;3800	ENSP00000344848:E3777V;ENSP00000350277:E3781V;ENSP00000346602:E3777V;ENSP00000381756:E3745V;ENSP00000323856:E3914V;ENSP00000347044:E3755V;ENSP00000348702:E3763V;ENSP00000388180:E3804V;ENSP00000434583:E3800V	ENSP00000323856:E3914V	E	-	2	0	PLEC	145064647	1.000000	0.71417	0.964000	0.40570	0.002000	0.02628	3.719000	0.54926	0.638000	0.30545	-0.732000	0.03574	GAG		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	16	0	0	0	0	4	16				
MPDZ	8777	broad.mit.edu	37	9	13223589	13223589	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:13223589C>T	ENST00000319217.7	-	5	761	c.514G>A	c.(514-516)Gag>Aag	p.E172K	MPDZ_ENST00000381022.2_Missense_Mutation_p.E172K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E172K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E172K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E172K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E172K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E172K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	172	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACACTGCCCTCTTGTATCTCT	0.448																																						uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(514-516)GAG>AAG		multiple PDZ domain protein							100.0	98.0	99.0					9																	13223589		1861	4110	5971	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13223589C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.514G>A	9.37:g.13223589C>T	ENSP00000320006:p.Glu172Lys					MPDZ_uc010mhy.2_Missense_Mutation_p.E172K|MPDZ_uc010mhz.2_Missense_Mutation_p.E172K|MPDZ_uc011lmn.1_Missense_Mutation_p.E172K|MPDZ_uc003zlb.3_Missense_Mutation_p.E172K	p.E172K	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	571	-			172			PDZ 1.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.514G>A		.	.	.	.	.	.	.	.	.	.	C	16.09	3.025432	0.54683	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	6.08	6.08	0.98989	.	0.294901	0.24323	N	0.039529	T	0.32585	0.0834	N	0.20610	0.595	0.80722	D	1	B;B;B	0.33044	0.395;0.367;0.367	B;B;B	0.29785	0.107;0.069;0.069	T	0.05354	-1.0890	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	172;172;172	B7ZMI4;O75970-3;O75970-2	.;.;.	K	172	ENSP00000320006:E172K;ENSP00000439807:E172K;ENSP00000370410:E172K;ENSP00000444151:E172K;ENSP00000415208:E172K;ENSP00000370403:E172K;ENSP00000446358:E172K	ENSP00000320006:E172K	E	-	1	0	MPDZ	13213589	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	4.841000	0.62824	2.894000	0.99253	0.591000	0.81541	GAG		0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		8	48	0	0	0	0	8	48				
IFNA8	3445	broad.mit.edu	37	9	21409439	21409439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:21409439C>G	ENST00000380205.1	+	1	294	c.264C>G	c.(262-264)ttC>ttG	p.F88L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	88					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGCAGACCTTCAACCTCTTCA	0.473																																						uc003zpc.1		NA																	0					0						c.(262-264)TTC>TTG		interferon, alpha 8 precursor							102.0	95.0	98.0					9																	21409439		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409439C>G		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.264C>G	9.37:g.21409439C>G	ENSP00000369553:p.Phe88Leu						p.F88L	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	294	+			88					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.264C>G	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	C	9.731	1.162272	0.21538	.	.	ENSG00000120242	ENST00000380205	T	0.04551	3.6	3.48	1.52	0.23074	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.498026	0.21894	N	0.067555	T	0.06142	0.0159	M	0.66560	2.04	0.09310	N	1	B	0.30851	0.297	B	0.35470	0.203	T	0.24476	-1.0159	10	0.37606	T	0.19	.	3.1735	0.06560	0.0:0.497:0.2846:0.2184	.	88	P32881	IFNA8_HUMAN	L	88	ENSP00000369553:F88L	ENSP00000369553:F88L	F	+	3	2	IFNA8	21399439	0.004000	0.15560	0.057000	0.19452	0.958000	0.62258	-0.141000	0.10327	0.762000	0.33152	0.491000	0.48974	TTC		0.473	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		29	143	0	0	0	0	29	143				
TRMT10B	158234	broad.mit.edu	37	9	37776359	37776359	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:37776359G>C	ENST00000297994.3	+	8	866	c.801G>C	c.(799-801)caG>caC	p.Q267H	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.Q172H|TRMT10B_ENST00000377753.2_Missense_Mutation_p.Q189H|TRMT10B_ENST00000537911.1_Missense_Mutation_p.Q216H	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	267	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										TCAGAAACCAGAATGGGAAAA	0.453																																						uc004aai.2		NA																	0					0						c.(799-801)CAG>CAC		RNA (guanine-9-) methyltransferase domain							56.0	52.0	53.0					9																	37776359		1917	4137	6054	SO:0001583	missense	158234						methyltransferase activity	g.chr9:37776359G>C	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.801G>C	9.37:g.37776359G>C	ENSP00000297994:p.Gln267His					RG9MTD3_uc011lqo.1_Missense_Mutation_p.Q216H|RG9MTD3_uc011lqp.1_Missense_Mutation_p.Q189H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.Q156H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.Q172H	p.Q267H	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN		GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)	8	878	+			267					B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.801G>C	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	4.784	0.145845	0.09134	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.28	-0.298	0.12814	.	0.889113	0.10003	N	0.728184	T	0.16342	0.0393	L	0.34521	1.04	0.58432	D	0.999994	B;B;B;B;B	0.20988	0.006;0.05;0.027;0.002;0.043	B;B;B;B;B	0.23852	0.008;0.048;0.039;0.019;0.049	T	0.24799	-1.0150	10	0.59425	D	0.04	-0.4406	1.7978	0.03065	0.1837:0.1338:0.436:0.2465	.	156;189;216;172;267	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	H	189;216;172;267	ENSP00000366982:Q189H;ENSP00000444997:Q216H;ENSP00000366983:Q172H;ENSP00000297994:Q267H	ENSP00000297994:Q267H	Q	+	3	2	RG9MTD3	37766359	0.000000	0.05858	0.821000	0.32701	0.284000	0.27059	-0.343000	0.07791	0.185000	0.20105	-1.251000	0.01509	CAG		0.453	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964		12	18	0	0	0	0	12	18				
IARS	3376	broad.mit.edu	37	9	95014160	95014160	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:95014160T>C	ENST00000375643.3	-	22	2503	c.2237A>G	c.(2236-2238)aAt>aGt	p.N746S	IARS_ENST00000447699.2_Missense_Mutation_p.N636S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.N746S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	746					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCCATCCCATTTTCACCCTA	0.328																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(2236-2238)AAT>AGT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						132.0	117.0	122.0					9																	95014160		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95014160T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2237A>G	9.37:g.95014160T>C	ENSP00000364794:p.Asn746Ser					IARS_uc004ars.1_Missense_Mutation_p.N591S|IARS_uc004aru.3_Missense_Mutation_p.N746S|IARS_uc010mqr.2_Missense_Mutation_p.N636S|IARS_uc010mqt.2_Intron	p.N746S	NM_013417	NP_038203	P41252	SYIC_HUMAN			22	2494	-			746					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2237A>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	4.771	0.143356	0.09134	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.10860	2.83;2.83;2.83	5.72	2.03	0.26663	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.162693	0.64402	N	0.000002	T	0.06554	0.0168	N	0.21583	0.68	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.38373	-0.9664	10	0.18276	T	0.48	-16.2016	8.7656	0.34700	0.0:0.2788:0.0:0.7212	.	746;591	P41252;Q6P0M4	SYIC_HUMAN;.	S	746;746;636;746	ENSP00000364794:N746S;ENSP00000406448:N746S;ENSP00000415020:N636S	ENSP00000364794:N746S	N	-	2	0	IARS	94053981	0.970000	0.33590	0.858000	0.33744	0.455000	0.32408	1.258000	0.32944	0.102000	0.17638	-0.256000	0.11100	AAT		0.328	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		9	46	0	0	0	0	9	46				
SUSD1	64420	broad.mit.edu	37	9	114820851	114820851	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:114820851C>T	ENST00000374270.3	-	14	2138	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	SUSD1_ENST00000374263.3_Missense_Mutation_p.E656K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E656K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	656						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCAGTAGTTCTGCAGCCACG	0.483																																						uc004bfu.2		NA																	0					0						c.(1966-1968)GAA>AAA		sushi domain containing 1 precursor							131.0	119.0	123.0					9																	114820851		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114820851C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1966G>A	9.37:g.114820851C>T	ENSP00000363388:p.Glu656Lys					SUSD1_uc010mui.2_Missense_Mutation_p.E656K|SUSD1_uc010muj.2_Missense_Mutation_p.E656K	p.E656K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			14	2007	-			656			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1966G>A	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.763027|4.763027	0.89932|0.89932	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.49916|.	D|.	0.000137|.	T|T	0.75177|0.75177	0.3814|0.3814	M|M	0.68593|0.68593	2.085|2.085	0.42617|0.42617	D|D	0.993337|0.993337	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.85130|.	0.994;0.997;0.994|.	T|T	0.73990|0.73990	-0.3808|-0.3808	9|5	.|.	.|.	.|.	-17.4646|-17.4646	19.2559|19.2559	0.93945|0.93945	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	656;656;656|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	K|K	656|639	ENSP00000363388:E656K;ENSP00000363381:E656K;ENSP00000363382:E656K|.	.|.	E|R	-|-	1|2	0|0	SUSD1|SUSD1	113860672|113860672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	5.335000|5.335000	0.65929|0.65929	2.553000|2.553000	0.86117|0.86117	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.483	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		30	110	0	0	0	0	30	110				
SPTAN1	6709	broad.mit.edu	37	9	131394439	131394439	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131394439C>G	ENST00000372731.4	+	52	6891	c.6781C>G	c.(6781-6783)Cag>Gag	p.Q2261E	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2266E|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q2266E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2261					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATGAGAAGTCAGCTCAAAAA	0.637																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6781-6783)CAG>GAG		spectrin, alpha, non-erythrocytic 1							31.0	31.0	31.0					9																	131394439		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131394439C>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6781C>G	9.37:g.131394439C>G	ENSP00000361816:p.Gln2261Glu					SPTAN1_uc004bvm.3_Missense_Mutation_p.Q2266E|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q2241E|SPTAN1_uc004bvo.3_Missense_Mutation_p.Q28E|SPTAN1_uc004bvp.3_Missense_Mutation_p.Q4E	p.Q2261E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			52	6894	+			2261			Spectrin 23.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6781C>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515617	0.64634	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50813	0.73;0.73;0.73	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	N	0.12443	0.215	0.80722	D	1	P;P;B	0.43578	0.507;0.811;0.045	B;P;B	0.54924	0.241;0.764;0.06	T	0.27606	-1.0069	10	0.12766	T	0.61	.	19.0678	0.93119	0.0:1.0:0.0:0.0	.	2241;2266;2261	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	E	2266;2261;2266;2241	ENSP00000350882:Q2266E;ENSP00000361816:Q2261E;ENSP00000361824:Q2266E	ENSP00000350882:Q2266E	Q	+	1	0	SPTAN1	130434260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.479000	0.81095	2.499000	0.84300	0.561000	0.74099	CAG		0.637	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		6	24	0	0	0	0	6	24				
SPTAN1	6709	broad.mit.edu	37	9	131395123	131395123	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:131395123C>G	ENST00000372731.4	+	55	7292	c.7182C>G	c.(7180-7182)ttC>ttG	p.F2394L	SPTAN1_ENST00000372739.3_Missense_Mutation_p.F2399L|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.F2399L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2394	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACATGGCTTTCATGATCAGCC	0.597																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(7180-7182)TTC>TTG		spectrin, alpha, non-erythrocytic 1							94.0	94.0	94.0					9																	131395123		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131395123C>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7182C>G	9.37:g.131395123C>G	ENSP00000361816:p.Phe2394Leu					SPTAN1_uc004bvm.3_Missense_Mutation_p.F2399L|SPTAN1_uc004bvn.3_Missense_Mutation_p.F2374L|SPTAN1_uc004bvo.3_Missense_Mutation_p.F161L|SPTAN1_uc004bvp.3_Missense_Mutation_p.F137L	p.F2394L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			55	7295	+			2394			EF-hand 2.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7182C>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259057	0.80246	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70282	-0.47;-0.47;-0.47	5.69	2.42	0.29668	EF-hand-like domain (1);	0.107759	0.64402	D	0.000003	T	0.71584	0.3357	N	0.17872	0.535	0.80722	D	1	D;B;B	0.76494	0.999;0.341;0.004	D;B;B	0.80764	0.994;0.118;0.012	T	0.74269	-0.3720	10	0.87932	D	0	.	12.2758	0.54735	0.0:0.7832:0.0:0.2168	.	2374;2399;2394	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	L	2399;2394;2399;2374	ENSP00000350882:F2399L;ENSP00000361816:F2394L;ENSP00000361824:F2399L	ENSP00000350882:F2399L	F	+	3	2	SPTAN1	130434944	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	1.413000	0.34725	0.771000	0.33359	-0.258000	0.10820	TTC		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		26	97	0	0	0	0	26	97				
FIBCD1	84929	broad.mit.edu	37	9	133799178	133799178	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:133799178C>T	ENST00000372338.4	-	4	1044	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FIBCD1_ENST00000448616.1_Missense_Mutation_p.G268S|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G110S|FIBCD1_ENST00000253018.4_Missense_Mutation_p.G110S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	268	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACCTGGAAGCCGGCCGGGTAG	0.697																																						uc004bzz.2		NA																	0					0						c.(802-804)GGC>AGC		fibrinogen C domain containing 1							75.0	66.0	69.0					9																	133799178		2203	4300	6503	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799178C>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.802G>A	9.37:g.133799178C>T	ENSP00000361413:p.Gly268Ser					FIBCD1_uc011mcc.1_Missense_Mutation_p.G268S	p.G268S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	4	1047	-	all_hematologic(7;0.0028)		268			Fibrinogen C-terminal.|Extracellular (Potential).		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.802G>A	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463720	0.63513	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018;ENST00000451466	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-0.93;-1.38	5.67	5.67	0.87782	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.097699	0.64402	D	0.000001	T	0.69233	0.3088	N	0.25094	0.71	0.53688	D	0.999978	P	0.47191	0.891	P	0.44732	0.459	T	0.67856	-0.5562	10	0.06099	T	0.92	.	14.2744	0.66170	0.0:0.8518:0.1482:0.0	.	268	Q8N539	FBCD1_HUMAN	S	268;268;110;110;268	ENSP00000414501:G268S;ENSP00000361413:G268S;ENSP00000361412:G110S;ENSP00000253018:G110S;ENSP00000393894:G268S	ENSP00000253018:G110S	G	-	1	0	FIBCD1	132788999	1.000000	0.71417	0.979000	0.43373	0.349000	0.29174	6.958000	0.76025	2.667000	0.90743	0.563000	0.77884	GGC		0.697	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		32	32	0	0	0	0	32	32				
NOTCH1	4851	broad.mit.edu	37	9	139413087	139413087	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:139413087T>A	ENST00000277541.6	-	6	1130	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	352	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACGGTCATGGCAGGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1054-1056)GAC>GTC		notch1 preproprotein							26.0	33.0	31.0					9																	139413087		2197	4293	6490	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413087T>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1055A>T	9.37:g.139413087T>A	ENSP00000277541:p.Asp352Val	HNSCC(8;0.001)					p.D352V	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1055	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	352			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1055A>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812810	0.90707	.	.	ENSG00000148400	ENST00000277541	D	0.88741	-2.42	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96341	0.9251	10	0.72032	D	0.01	.	13.7271	0.62765	0.0:0.0:0.0:1.0	.	352	P46531	NOTC1_HUMAN	V	352	ENSP00000277541:D352V	ENSP00000277541:D352V	D	-	2	0	NOTCH1	138532908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.768000	0.85345	1.923000	0.55706	0.459000	0.35465	GAC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	8	0	0	0	0	8	8				
SHROOM2	357	broad.mit.edu	37	X	9862972	9862972	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:9862972G>C	ENST00000380913.3	+	4	1114	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	342					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTGTTCTCAGAGGCGGCTGC	0.657																																						uc004csu.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1024-1026)GAG>CAG		apical protein of Xenopus-like							21.0	21.0	21.0					X																	9862972		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862972G>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1024G>C	X.37:g.9862972G>C	ENSP00000370299:p.Glu342Gln						p.E342Q	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	1114	+		Hepatocellular(5;0.000888)	342					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1024G>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547547	0.65311	.	.	ENSG00000146950	ENST00000380913	T	0.63255	-0.03	4.66	3.8	0.43715	.	0.665979	0.14354	N	0.324884	T	0.70806	0.3266	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.68014	-0.5521	10	0.51188	T	0.08	-12.6512	11.2901	0.49245	0.0915:0.0:0.9085:0.0	.	342	Q13796	SHRM2_HUMAN	Q	342	ENSP00000370299:E342Q	ENSP00000370299:E342Q	E	+	1	0	SHROOM2	9822972	1.000000	0.71417	0.008000	0.14137	0.088000	0.18126	9.095000	0.94175	0.794000	0.33899	0.600000	0.82982	GAG		0.657	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	28	0	0	0	0	6	28				
MAP3K15	389840	broad.mit.edu	37	X	19398256	19398256	+	Silent	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:19398256C>T	ENST00000338883.4	-	19	2570	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P	MAP3K15_ENST00000359173.3_Silent_p.P292P|MAP3K15_ENST00000469203.2_Silent_p.P689P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGCTGCCTGCGGCTCACCAA	0.537																																						uc004czk.1		NA																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(994-996)CCG>CCA		mitogen-activated protein kinase kinase kinase							57.0	47.0	50.0					X																	19398256		2203	4299	6502	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19398256C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2571G>A	X.37:g.19398256C>T						MAP3K15_uc004czj.1_Silent_p.P292P	p.P332P	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			20	2633	-	Hepatocellular(33;0.183)		857			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.996G>A																																																																																					0.537	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		5	11	0	0	0	0	5	11				
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397548.2_Silent_p.P274P|MAGEB1_ENST00000397550.1_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502																																						uc004dcc.2		NA																	0					0						c.(820-822)CCG>CCA		melanoma antigen family B, 1							107.0	95.0	99.0					X																	30269432		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269432G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.822G>A	X.37:g.30269432G>A						MAGEB1_uc004dcd.2_Silent_p.P274P|MAGEB1_uc004dce.2_Silent_p.P274P	p.P274P	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1142	+			274			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.822G>A	CCDS14222.1																																																																																				0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		19	90	0	0	0	0	19	90				
DMD	1756	broad.mit.edu	37	X	31950313	31950313	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:31950313A>G	ENST00000357033.4	-	46	6852	c.6646T>C	c.(6646-6648)Ttt>Ctt	p.F2216L	DMD_ENST00000378677.2_Missense_Mutation_p.F2212L|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2216					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCTTTGAAATTCTGACAAG	0.303																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6646-6648)TTT>CTT		dystrophin Dp427m isoform							66.0	62.0	63.0					X																	31950313		2201	4299	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31950313A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6646T>C	X.37:g.31950313A>G	ENSP00000354923:p.Phe2216Leu					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.F872L|DMD_uc004dcx.2_Missense_Mutation_p.F875L|DMD_uc004dcz.2_Missense_Mutation_p.F2093L|DMD_uc004dcy.1_Missense_Mutation_p.F2212L|DMD_uc004ddb.1_Missense_Mutation_p.F2208L|DMD_uc010ngo.1_Missense_Mutation_p.F125L|DMD_uc010ngn.1_Intron	p.F2216L	NM_004006	NP_003997	P11532	DMD_HUMAN			46	6890	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2216			Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6646T>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	a	13.09	2.132087	0.37630	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.62364	0.03;0.03	5.81	5.81	0.92471	.	0.000000	0.36167	U	0.002759	T	0.42314	0.1197	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.004;0.0;0.004	B;B;B;B;B;B	0.16289	0.004;0.009;0.003;0.015;0.002;0.015	T	0.37641	-0.9697	10	0.07482	T	0.82	.	15.0889	0.72177	1.0:0.0:0.0:0.0	.	875;2208;2216;2212;875;872	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	L	2208;875;872;2212;2216;2216;2093	ENSP00000367948:F2212L;ENSP00000354923:F2216L	ENSP00000354923:F2216L	F	-	1	0	DMD	31860234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.346000	0.65992	1.946000	0.56461	0.478000	0.44815	TTT		0.303	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	36	0	0	0	0	10	36				
RPGR	6103	broad.mit.edu	37	X	38135929	38135929	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:38135929C>T	ENST00000339363.3	-	15	2784	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	RPGR_ENST00000318842.7_Missense_Mutation_p.D668N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.D606N|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	873	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTTCATCATCTCCCACAGTT	0.358																																						uc004deb.2		NA																	0				ovary(1)	1						c.(2002-2004)GAT>AAT		retinitis pigmentosa GTPase regulator isoform A							283.0	231.0	249.0					X																	38135929		2201	4300	6501	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38135929C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2617G>A	X.37:g.38135929C>T	ENSP00000343671:p.Asp873Asn					RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	p.D668N	NM_000328	NP_000319	Q92834	RPGR_HUMAN			16	2170	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.2002G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.10|10.10	1.256673|1.256673	0.22965|0.22965	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842|ENST00000494707	T;T;T|.	0.18657|.	2.3;3.63;2.2|.	4.54|4.54	2.69|2.69	0.31865|0.31865	.|.	.|.	.|.	.|.	.|.	T|T	0.23094|0.23094	0.0558|0.0558	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P|.	0.42518|.	0.782|.	P|.	0.46172|.	0.506|.	T|T	0.18304|0.18304	-1.0341|-1.0341	9|5	0.18710|.	T|.	0.47|.	.|.	4.6277|4.6277	0.12486|0.12486	0.0:0.6513:0.2248:0.1239|0.0:0.6513:0.2248:0.1239	.|.	668|.	Q92834-2|.	.|.	N|K	873;606;668|79	ENSP00000343671:D873N;ENSP00000308783:D606N;ENSP00000322219:D668N|.	ENSP00000308783:D606N|.	D|R	-|-	1|2	0|0	RPGR|RPGR	38020873|38020873	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.052000|0.052000	0.14163|0.14163	0.982000|0.982000	0.38575|0.38575	0.596000|0.596000	0.82720|0.82720	GAT|AGA		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		20	107	0	0	0	0	20	107				
USP9X	8239	broad.mit.edu	37	X	40988323	40988323	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:40988323C>T	ENST00000324545.8	+	3	800	c.167C>T	c.(166-168)gCc>gTc	p.A56V	USP9X_ENST00000378308.2_Missense_Mutation_p.A56V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	56					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGGTGATGCCCCACCACAG	0.443																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(166-168)GCC>GTC		ubiquitin specific protease 9, X-linked isoform							103.0	95.0	98.0					X																	40988323		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40988323C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.167C>T	X.37:g.40988323C>T	ENSP00000316357:p.Ala56Val					USP9X_uc004dfc.2_Missense_Mutation_p.A56V	p.A56V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			3	800	+			56					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.167C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127775	0.56721	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03004	4.08;4.09	5.41	4.55	0.56014	.	0.161948	0.52532	D	0.000062	T	0.03739	0.0106	N	0.22421	0.69	0.47511	D	0.999447	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.46992	-0.9151	10	0.33940	T	0.23	.	15.3665	0.74526	0.0:0.864:0.136:0.0	.	56;56	Q93008-1;Q93008	.;USP9X_HUMAN	V	56	ENSP00000367558:A56V;ENSP00000316357:A56V	ENSP00000316357:A56V	A	+	2	0	USP9X	40873267	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	3.761000	0.55242	1.028000	0.39785	0.600000	0.82982	GCC		0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		3	43	0	0	0	0	3	43				
PORCN	64840	broad.mit.edu	37	X	48370791	48370791	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:48370791T>A	ENST00000326194.6	+	4	494	c.451T>A	c.(451-453)Tcg>Acg	p.S151T	PORCN_ENST00000537758.1_Missense_Mutation_p.S151T|PORCN_ENST00000355961.4_Missense_Mutation_p.S151T|PORCN_ENST00000361988.3_Missense_Mutation_p.S151T|PORCN_ENST00000359882.4_Missense_Mutation_p.S151T|PORCN_ENST00000355092.3_Missense_Mutation_p.S151T|PORCN_ENST00000367574.4_Missense_Mutation_p.S80T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	151					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACGGTGCCCTCGCCAGTGGA	0.607																																						uc010nie.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(451-453)TCG>ACG		porcupine isoform D							78.0	61.0	67.0					X																	48370791		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48370791T>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.451T>A	X.37:g.48370791T>A	ENSP00000322304:p.Ser151Thr					PORCN_uc004djr.1_Missense_Mutation_p.S151T|PORCN_uc004djs.1_Missense_Mutation_p.S151T|PORCN_uc004djt.1_Missense_Mutation_p.S80T|PORCN_uc011mlx.1_Missense_Mutation_p.S80T|PORCN_uc004dju.1_Missense_Mutation_p.S20T|PORCN_uc004djv.1_Missense_Mutation_p.S151T|PORCN_uc004djw.1_Missense_Mutation_p.S151T	p.S151T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			5	609	+			151			Extracellular (Potential).		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.451T>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307527	0.23821	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	L	0.34521	1.04	0.58432	D	0.999997	B;B;B;P;P	0.36712	0.423;0.055;0.055;0.566;0.566	B;B;B;B;B	0.35859	0.153;0.085;0.085;0.212;0.212	T	0.66460	-0.5918	10	0.51188	T	0.08	-4.4987	12.0415	0.53456	0.0:0.0:0.0:1.0	.	151;151;80;151;151	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	T	151;151;80;151;151;151;151	ENSP00000352946:S151T;ENSP00000446401:S151T;ENSP00000356546:S80T;ENSP00000348233:S151T;ENSP00000354978:S151T;ENSP00000322304:S151T;ENSP00000347207:S151T	ENSP00000322304:S151T	S	+	1	0	PORCN	48255735	1.000000	0.71417	0.993000	0.49108	0.055000	0.15305	7.269000	0.78482	1.747000	0.51819	0.242000	0.17961	TCG		0.607	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		4	34	0	0	0	0	4	34				
ATRX	546	broad.mit.edu	37	X	76944323	76944323	+	Silent	SNP	A	A	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:76944323A>T	ENST00000373344.5	-	7	796	c.582T>A	c.(580-582)gtT>gtA	p.V194V	ATRX_ENST00000395603.3_Silent_p.V156V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	194	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		Missing (in ATRX). {ECO:0000269|PubMed:10204841}.|V -> I (in ATRX). {ECO:0000269|PubMed:10995512}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACAAATAAGAACTTGCAATG	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(580-582)GTT>GTA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						133.0	123.0	126.0					X																	76944323		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76944323A>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.582T>A	X.37:g.76944323A>T						ATRX_uc004ecq.3_Silent_p.V156V|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.V155V|ATRX_uc010nlx.1_Silent_p.V194V|ATRX_uc010nly.1_Silent_p.V139V	p.V194V	NM_000489	NP_000480	P46100	ATRX_HUMAN			7	814	-			194		V -> I (in ATRX).|Missing (in ATRX).	ADD.|GATA-type; atypical.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.582T>A	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	94	0	0	0	0	48	94				
BHLHB9	80823	broad.mit.edu	37	X	102005206	102005206	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:102005206T>A	ENST00000372735.1	+	4	1868	c.1283T>A	c.(1282-1284)aTa>aAa	p.I428K	BHLHB9_ENST00000447531.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000361229.4_Missense_Mutation_p.I428K|BHLHB9_ENST00000457056.1_Missense_Mutation_p.I428K|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I428K			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	428					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGATTAAAGATACTAGGACAA	0.373																																						uc010nog.2		NA																	0				ovary(2)	2						c.(1282-1284)ATA>AAA		basic helix-loop-helix domain containing, class							82.0	76.0	78.0					X																	102005206		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005206T>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1283T>A	X.37:g.102005206T>A	ENSP00000361820:p.Ile428Lys					BHLHB9_uc011mrq.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrr.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrs.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrt.1_Missense_Mutation_p.I428K|BHLHB9_uc004ejo.2_Missense_Mutation_p.I428K|BHLHB9_uc011mru.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrv.1_Missense_Mutation_p.I428K	p.I428K	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1854	+			428					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1283T>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814875	0.32053	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.44	2.02	0.26589	Armadillo-like helical (1);Armadillo-type fold (1);	0.440664	0.19364	N	0.116075	T	0.21387	0.0515	N	0.22421	0.69	0.36836	D	0.887156	P	0.37914	0.611	B	0.40864	0.342	T	0.12167	-1.0558	9	.	.	.	-16.7993	2.8197	0.05468	0.2543:0.1244:0.0:0.6213	.	428	Q6PI77	BHLH9_HUMAN	K	428	ENSP00000403226:I428K;ENSP00000354675:I428K;ENSP00000405893:I428K;ENSP00000391722:I428K;ENSP00000361820:I428K	.	I	+	2	0	BHLHB9	101891862	1.000000	0.71417	0.603000	0.28903	0.952000	0.60782	0.916000	0.28651	0.295000	0.22570	0.345000	0.21793	ATA		0.373	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		49	47	0	0	0	0	49	47				
HIVEP3	59269	broad.mit.edu	37	1	42048048	42048048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr1:42048048delC	ENST00000372583.1	-	4	3306	c.2421delG	c.(2419-2421)gagfs	p.E807fs	HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E807fs|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E807fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	807	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AATCAGATTTCTCAAAGGAGC	0.562																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2419-2421)GAGfs		human immunodeficiency virus type I enhancer							46.0	50.0	49.0					1																	42048048		2203	4300	6503	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048048delC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2421delG	1.37:g.42048048delC	ENSP00000361664:p.Glu807fs					HIVEP3_uc001cha.3_Frame_Shift_Del_p.E807fs|HIVEP3_uc001cgy.2_RNA	p.E807fs	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3634	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	807			Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.2421delG	CCDS463.1																																																																																				0.562	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		61	56	NA	NA	NA	NA	61	56	---	---	---	---
PAPSS2	9060	broad.mit.edu	37	10	89472945	89472946	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr10:89472945_89472946delAG	ENST00000361175.4	+	3	628_629	c.259_260delAG	c.(259-261)agafs	p.R87fs	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Frame_Shift_Del_p.R87fs|PAPSS2_ENST00000427144.2_Frame_Shift_Del_p.R91fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	87					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGGCCTTAACAGAAATCTCGGA	0.51																																						uc001kex.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(259-261)AGAfs		3'-phosphoadenosine 5'-phosphosulfate synthase 2																																				SO:0001589	frameshift_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472945_89472946delAG	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.259_260delAG	10.37:g.89472945_89472946delAG	ENSP00000354436:p.Arg87fs					PAPSS2_uc001kew.2_Frame_Shift_Del_p.R87fs|PAPSS2_uc009xtg.1_RNA	p.R87fs	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	522_523	+		Melanoma(5;0.019)|Colorectal(252;0.123)	87			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Frame_Shift_Del	DEL	ENST00000361175.4	37	c.259_260delAG	CCDS7385.1																																																																																				0.510	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			20	114	NA	NA	NA	NA	20	114	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31255240	31255241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr12:31255240_31255241insT	ENST00000407793.2	+	22	2517_2518	c.2266_2267insT	c.(2266-2268)atcfs	p.I756fs	DDX11_ENST00000228264.6_Frame_Shift_Ins_p.I730fs|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Frame_Shift_Ins_p.I756fs|DDX11_ENST00000350437.4_Frame_Shift_Ins_p.I706fs|DDX11_ENST00000545668.1_Frame_Shift_Ins_p.I756fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	756					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCAGGTGCATCCAGGTGCGG	0.559										Multiple Myeloma(12;0.14)																												uc001rjt.1		NA																	0				breast(3)	3						c.(2266-2268)ATCfs		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11																																				SO:0001589	frameshift_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255240_31255241insT	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2267dupT	12.37:g.31255241_31255241dupT	ENSP00000384703:p.Ile756fs	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjs.1_Frame_Shift_Ins_p.I706fs|DDX11_uc001rju.1_Frame_Shift_Ins_p.I428fs|DDX11_uc001rjv.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjw.1_Frame_Shift_Ins_p.I730fs|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	p.I756fs	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			22	2517_2518	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		756					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Ins	INS	ENST00000407793.2	37	c.2266_2267insT	CCDS44856.1																																																																																				0.559	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		21	91	NA	NA	NA	NA	21	91	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(784-786)GAGdel		iroquois homeobox protein 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					IRX6_uc002ehx.2_In_Frame_Del_p.E268del	p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1317_1319	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		7	82	NA	NA	NA	NA	7	82	---	---	---	---
CNOT10	25904	broad.mit.edu	37	3	32758664	32758665	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr3:32758664_32758665insT	ENST00000328834.5	+	7	995_996	c.679_680insT	c.(679-681)atcfs	p.I227fs	CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.I227fs|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.I287fs|CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000463697.1_3'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	227					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ACGAGCTTATATCCAAATGAAG	0.327																																						uc003cfc.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(679-681)ATCfs		CCR4-NOT transcription complex, subunit 10																																				SO:0001589	frameshift_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32758664_32758665insT	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.680dupT	3.37:g.32758665_32758665dupT	ENSP00000330060:p.Ile227fs					CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Frame_Shift_Ins_p.I226fs|CNOT10_uc003cfe.1_Frame_Shift_Ins_p.I227fs|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Frame_Shift_Ins_p.I287fs|CNOT10_uc010hfw.1_5'UTR	p.I227fs	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			7	934_935	+			227					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Frame_Shift_Ins	INS	ENST00000328834.5	37	c.679_680insT	CCDS2655.1																																																																																				0.327	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		15	72	NA	NA	NA	NA	15	72	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43497022	43497022	+	Intron	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr6:43497022delT	ENST00000265351.7	-	24	2888				POLR1C_ENST00000304004.3_Frame_Shift_Del_p.C320fs	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ggctcacacctgtaatcccag	0.473																																						uc003ovo.1		NA																	0					0						c.(958-960)TGTfs		RNA polymerase I subunit isoform 2							125.0	103.0	111.0					6																	43497022		2203	4300	6503	SO:0001627	intron_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43497022delT	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2678-359A>-	6.37:g.43497022delT						XPO5_uc003ovp.2_Intron	p.C320fs	NM_004875	NP_004866	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1015	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Error:Variant_position_missing_in_O15160_after_alignment					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Frame_Shift_Del	DEL	ENST00000265351.7	37	c.958delT	CCDS47430.1																																																																																				0.473	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		9	26	NA	NA	NA	NA	9	26	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131189187	131189191	+	Frame_Shift_Del	DEL	AGAAG	AGAAG	-	rs529598859		TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr7:131189187_131189191delAGAAG	ENST00000378555.3	-	9	1803_1807	c.1556_1560delCTTCT	c.(1555-1560)tcttctfs	p.SS519fs	PODXL_ENST00000322985.9_Frame_Shift_Del_p.SS487fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.SS487fs|PODXL_ENST00000541194.1_Frame_Shift_Del_p.SS521fs			O00592	PODXL_HUMAN	podocalyxin-like	519					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCTGCATCTCAGAAGAGGTCTCCAT	0.576																																						uc003vqw.3		NA																	0				breast(2)|pancreas(1)	3						c.(1555-1560)TCTTCTfs		podocalyxin-like isoform 1 precursor																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189187_131189191delAGAAG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1556_1560delCTTCT	7.37:g.131189187_131189191delAGAAG	ENSP00000367817:p.Ser519fs					PODXL_uc003vqx.3_Frame_Shift_Del_p.S487fs	p.S519fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			9	1814_1818	-	Melanoma(18;0.162)		519_520			Cytoplasmic (Potential).		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Del	DEL	ENST00000378555.3	37	c.1556_1560delCTTCT	CCDS34755.1																																																																																				0.576	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		49	179	NA	NA	NA	NA	49	179	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57080731	57080731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr8:57080731delT	ENST00000316981.3	-	4	577	c.98delA	c.(97-99)aacfs	p.N33fs	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Frame_Shift_Del_p.N33fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	33	Interacts with KPNA2.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCAAGGAAAGTTTTTTCTTGG	0.453			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3		NA		Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	0				salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(97-99)AACfs		pleiomorphic adenoma gene 1 isoform b							122.0	111.0	115.0					8																	57080731		2203	4300	6503	SO:0001589	frameshift_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57080731delT	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.98delA	8.37:g.57080731delT	ENSP00000325546:p.Asn33fs					PLAG1_uc003xsr.3_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyi.2_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyj.2_Intron	p.N33fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		2	549	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	33			Interacts with KPNA2.		B4DLC2|Q59GH8|Q9Y4L2	Frame_Shift_Del	DEL	ENST00000316981.3	37	c.98delA	CCDS6165.1																																																																																				0.453	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		17	95	NA	NA	NA	NA	17	95	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116811467	116811476	+	Frame_Shift_Del	DEL	GCCGGCATGT	GCCGGCATGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chr9:116811467_116811476delGCCGGCATGT	ENST00000374126.5	+	15	1984_1993	c.1885_1894delGCCGGCATGT	c.(1885-1896)gccggcatgtgcfs	p.AGMC629fs	ZNF618_ENST00000288466.7_Frame_Shift_Del_p.AGMC536fs|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTTCTCCAAGGCCGGCATGTGCCTTCGCTG	0.624																																						uc004bid.2		NA																	0					0						c.(1885-1896)GCCGGCATGTGCfs		zinc finger protein 618																																				SO:0001589	frameshift_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811467_116811476delGCCGGCATGT	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1885_1894delGCCGGCATGT	9.37:g.116811467_116811476delGCCGGCATGT	ENSP00000363241:p.Ala629fs					ZNF618_uc004bic.2_Frame_Shift_Del_p.A536fs|ZNF618_uc011lxi.1_Frame_Shift_Del_p.A596fs|ZNF618_uc011lxj.1_Frame_Shift_Del_p.A597fs|ZNF618_uc010mvb.2_Frame_Shift_Del_p.A219fs	p.A629fs	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	1984_1993	+			629_632					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Frame_Shift_Del	DEL	ENST00000374126.5	37	c.1885_1894delGCCGGCATGT																																																																																					0.624	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		8	112	NA	NA	NA	NA	8	112	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50213559	50213570	+	RNA	DEL	GGCGGAGCCGGT	GGCGGAGCCGGT	-			TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:50213559_50213570delGGCGGAGCCGGT	ENST00000376025.2	-	0	167_178							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggagccggcggcggagccggtggtggtggcg	0.712																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(106-120)CCACCGGCTCCGCCG>CCG		diacylglycerol kinase kappa				30,2792		8,12,2,1156,468						-2.9	0.0			13	61,5737		10,20,21,2118,1481	no	coding	DGKK	NM_001013742.2		18,32,23,3274,1949	A1A1,A1R,A1,RR,R		1.0521,1.0631,1.0557				91,8529						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213559_50213570delGGCGGAGCCGGT	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213559_50213570delGGCGGAGCCGGT							p.36_40PPAPP>P	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			1	168_179	-	Ovarian(276;0.236)		36_40					B2RP91	In_Frame_Del	DEL	ENST00000376025.2	37	c.108_119delACCGGCTCCGCC																																																																																					0.712	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		9	26	NA	NA	NA	NA	9	26	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53563587	53563589	+	In_Frame_Del	DEL	CCA	CCA	-	rs426298	byFrequency	TCGA-DQ-5625-01A-01D-1870-08	TCGA-DQ-5625-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4e042e1d-8604-484a-b229-94b85745a478	eca3d25f-f215-420e-b040-ade10a9cee53	g.chrX:53563587_53563589delCCA	ENST00000342160.3	-	78	12634_12636	c.12177_12179delTGG	c.(12175-12180)ggtggg>ggg	p.4059_4060GG>G	HUWE1_ENST00000262854.6_In_Frame_Del_p.4059_4060GG>G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4059	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						CCGCAGGAGCCCACCAGCATCCT	0.473																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12175-12180)GGTGGG>GGG		HECT, UBA and WWE domain containing 1																																				SO:0001651	inframe_deletion	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:53563587_53563589delCCA	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.12177_12179delTGG	X.37:g.53563590_53563592delCCA	ENSP00000340648:p.Gly4060del					HUWE1_uc004dsn.2_In_Frame_Del_p.2867_2868GG>G	p.4059_4060GG>G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			79	12579_12581	-			4059_4060			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.12177_12179delTGG	CCDS35301.1																																																																																				0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		14	58	NA	NA	NA	NA	14	58	---	---	---	---
