#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
ZMYM6	9204	broad.mit.edu	37	1	35453123	35453123	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:35453123A>C	ENST00000357182.4	-	16	3787	c.3560T>G	c.(3559-3561)aTt>aGt	p.I1187S	RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000373340.2_Intron|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1187					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGCTCAAAAATAATCCTTGT	0.383																																						uc001byh.2		NA																	0				ovary(3)	3						c.(3559-3561)ATT>AGT		zinc finger protein 258							70.0	70.0	70.0					1																	35453123		1855	4081	5936	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35453123A>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3560T>G	1.37:g.35453123A>C	ENSP00000349708:p.Ile1187Ser					uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.I1090S	p.I1187S	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			16	3788	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1187					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.3560T>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283645	0.40394	.	.	ENSG00000163867	ENST00000357182	T	0.23754	1.89	4.88	4.88	0.63580	Ribonuclease H-like (1);	0.568199	0.17617	N	0.167869	T	0.35856	0.0946	M	0.67700	2.07	0.80722	D	1	P	0.52316	0.952	P	0.49140	0.601	T	0.17531	-1.0366	10	0.62326	D	0.03	-17.5477	11.0848	0.48080	1.0:0.0:0.0:0.0	.	1187	O95789	ZMYM6_HUMAN	S	1187	ENSP00000349708:I1187S	ENSP00000349708:I1187S	I	-	2	0	ZMYM6	35225710	0.007000	0.16637	0.630000	0.29268	0.547000	0.35210	1.832000	0.39151	2.189000	0.69895	0.528000	0.53228	ATT		0.383	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		9	63	0	0	0	0	9	63				
RLF	6018	broad.mit.edu	37	1	40703347	40703347	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:40703347A>G	ENST00000372771.4	+	8	3000	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	991					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAGACGAAAGATCTGTTTC	0.408																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(2971-2973)AAA>AAG		rearranged L-myc fusion							74.0	74.0	74.0					1																	40703347		2203	4300	6503	SO:0001819	synonymous_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40703347A>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2973A>G	1.37:g.40703347A>G						RLF_uc001cfd.3_Silent_p.K682K	p.K991K	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3004	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	991					Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	c.2973A>G	CCDS448.1																																																																																				0.408	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		14	43	0	0	0	0	14	43				
ERMAP	114625	broad.mit.edu	37	1	43305715	43305715	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:43305715A>T	ENST00000372517.2	+	9	893	c.649A>T	c.(649-651)Agt>Tgt	p.S217C	ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.S217C|RP11-342M1.3_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.S127C|RP11-342M1.3_ENST00000414798.1_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	217			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAACTCCGGAGTGAACTGAG	0.438																																						uc001cic.1		NA																	0				ovary(1)	1						c.(649-651)AGT>TGT		erythroblast membrane-associated protein							178.0	180.0	179.0					1																	43305715		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43305715A>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.649A>T	1.37:g.43305715A>T	ENSP00000361595:p.Ser217Cys					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.S217C|ERMAP_uc001cif.1_Missense_Mutation_p.S127C	p.S217C	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			9	919	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	217		Missing (in Sc-3 allele).	Cytoplasmic (Potential).		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.649A>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941232	0.53079	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.55234	0.78;0.78;0.53	5.37	1.69	0.24217	.	1.155170	0.06237	N	0.689634	T	0.45796	0.1360	L	0.43152	1.355	0.24291	N	0.995166	P	0.47106	0.89	B	0.43155	0.41	T	0.35301	-0.9794	10	0.49607	T	0.09	.	5.0513	0.14511	0.533:0.3702:0.0969:0.0	.	217	Q96PL5	ERMAP_HUMAN	C	217;217;127	ENSP00000361595:S217C;ENSP00000361592:S217C;ENSP00000332439:S127C	ENSP00000332439:S127C	S	+	1	0	ERMAP	43078302	0.179000	0.23135	0.958000	0.39756	0.979000	0.70002	-0.140000	0.10342	0.475000	0.27415	0.456000	0.33151	AGT		0.438	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		45	129	0	0	0	0	45	129				
ANKRD13C	81573	broad.mit.edu	37	1	70758091	70758091	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:70758091T>G	ENST00000370944.4	-	9	1508	c.1195A>C	c.(1195-1197)Ata>Cta	p.I399L	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.I364L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	399					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTTCCATTATGTTTCCACCT	0.338																																						uc001dex.3		NA																	0					0						c.(1195-1197)ATA>CTA		ankyrin repeat domain 13C							69.0	67.0	67.0					1																	70758091		2202	4297	6499	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70758091T>G		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1195A>C	1.37:g.70758091T>G	ENSP00000359982:p.Ile399Leu					ANKRD13C_uc009wbk.2_Missense_Mutation_p.I364L	p.I399L	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			9	1521	-			399					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1195A>C	CCDS648.2	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258921	0.23051	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42900	1.06;0.96	5.74	0.055	0.14313	.	0.313959	0.36066	N	0.002812	T	0.03871	0.0109	N	0.03253	-0.375	0.30754	N	0.744835	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40739	-0.9547	10	0.02654	T	1	.	6.7724	0.23601	0.408:0.0:0.3848:0.2071	.	364;399	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	399;364	ENSP00000359982:I399L;ENSP00000262346:I364L	ENSP00000262346:I364L	I	-	1	0	ANKRD13C	70530679	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.575000	0.36493	0.065000	0.16485	-0.472000	0.04984	ATA		0.338	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		15	57	0	0	0	0	15	57				
CASQ2	845	broad.mit.edu	37	1	116280931	116280931	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:116280931A>C	ENST00000261448.5	-	4	685	c.446T>G	c.(445-447)aTc>aGc	p.I149S	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	149					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTGCTGCTGATGATCTCCAC	0.443																																						uc001efx.3		NA																	0				skin(1)	1						c.(445-447)ATC>AGC		cardiac calsequestrin 2 precursor							241.0	211.0	221.0					1																	116280931		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116280931A>C	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.446T>G	1.37:g.116280931A>C	ENSP00000261448:p.Ile149Ser					CASQ2_uc010owu.1_Intron	p.I149S	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	710	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	149					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.446T>G	CCDS884.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099711	0.76983	.	.	ENSG00000118729	ENST00000261448;ENST00000446755	D	0.81908	-1.55	5.82	5.82	0.92795	Thioredoxin-like fold (2);	0.153017	0.64402	D	0.000020	D	0.90456	0.7011	M	0.87456	2.885	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.92233	0.5794	10	0.87932	D	0	-7.7407	14.4137	0.67135	1.0:0.0:0.0:0.0	.	149	O14958	CASQ2_HUMAN	S	149	ENSP00000261448:I149S	ENSP00000261448:I149S	I	-	2	0	CASQ2	116082454	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	7.513000	0.81739	2.222000	0.72286	0.533000	0.62120	ATC		0.443	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		47	121	0	0	0	0	47	121				
ZNF687	57592	broad.mit.edu	37	1	151259824	151259824	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:151259824C>T	ENST00000368879.2	+	2	1155	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTCAGATCCTGATCCACC	0.562																																						uc001exq.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1057-1059)CCT>TCT		zinc finger protein 687							65.0	61.0	62.0					1																	151259824		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259824C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1057C>T	1.37:g.151259824C>T	ENSP00000357874:p.Pro353Ser					ZNF687_uc001exp.1_Missense_Mutation_p.P362S|ZNF687_uc009wmo.2_Missense_Mutation_p.P353S|ZNF687_uc009wmp.2_Missense_Mutation_p.P353S	p.P353S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1155	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		353					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	C	3.671	-0.067446	0.07273	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00760	5.73;5.73;6.1	5.02	5.02	0.67125	.	0.000000	0.35096	N	0.003446	T	0.00271	0.0008	N	0.19112	0.55	0.32151	N	0.584189	B;B;B	0.30455	0.147;0.039;0.28	B;B;B	0.32289	0.143;0.027;0.132	T	0.53913	-0.8371	9	.	.	.	.	7.4406	0.27181	0.0:0.8246:0.0:0.1754	.	353;353;353	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	S	353	ENSP00000336620:P353S;ENSP00000319829:P353S;ENSP00000357874:P353S	.	P	+	1	0	ZNF687	149526448	0.015000	0.18098	1.000000	0.80357	0.092000	0.18411	0.799000	0.27028	2.620000	0.88729	0.561000	0.74099	CCT		0.562	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		29	65	0	0	0	0	29	65				
ADAM15	8751	broad.mit.edu	37	1	155034393	155034393	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:155034393A>G	ENST00000356955.2	+	21	2467	c.2366A>G	c.(2365-2367)gAc>gGc	p.D789G	ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000531455.1_Intron|EFNA4_ENST00000359751.4_5'Flank|EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000359280.4_Missense_Mutation_p.D764G|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.D788G|ADAM15_ENST00000472434.1_3'UTR|EFNA3_ENST00000556931.1_5'Flank|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Intron|EFNA4_ENST00000427683.2_5'Flank|EFNA4_ENST00000368409.3_5'Flank	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	789					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGCTGGCTGACCGACCCAAT	0.642											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(2365-2367)GAC>GGC		a disintegrin and metalloproteinase domain 15							105.0	106.0	106.0					1																	155034393		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155034393A>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2366A>G	1.37:g.155034393A>G	ENSP00000349436:p.Asp789Gly		OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.D473G|ADAM15_uc001fgt.1_Missense_Mutation_p.D788G|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.D764G|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Intron|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	p.D789G	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		21	2467	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		789			Cytoplasmic (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.2366A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	a	10.91	1.482815	0.26598	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280	T;T;T	0.00717	5.79;5.79;5.8	4.37	4.37	0.52481	.	0.000000	0.41938	D	0.000789	T	0.00637	0.0021	N	0.17082	0.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.998;0.993	T	0.79766	-0.1665	10	0.14252	T	0.57	.	9.8779	0.41216	1.0:0.0:0.0:0.0	.	764;788;789;785	Q13444-5;Q13444-3;Q13444;Q59GF2	.;.;ADA15_HUMAN;.	G	789;788;764	ENSP00000349436:D789G;ENSP00000403843:D788G;ENSP00000352226:D764G	ENSP00000349436:D789G	D	+	2	0	ADAM15	153301017	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.901000	0.28445	1.828000	0.53243	0.446000	0.29264	GAC		0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		14	145	0	0	0	0	14	145				
BCAN	63827	broad.mit.edu	37	1	156618415	156618415	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:156618415G>A	ENST00000329117.5	+	6	1161	c.825G>A	c.(823-825)gcG>gcA	p.A275A	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.A275A	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	275	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACGGGCGTACTGCCAGG	0.612																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(823-825)GCG>GCA		brevican isoform 1							85.0	81.0	82.0					1																	156618415		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618415G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.825G>A	1.37:g.156618415G>A						BCAN_uc001fpo.2_Silent_p.A275A	p.A275A	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1161	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		275			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.825G>A	CCDS1149.1																																																																																				0.612	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		24	126	0	0	0	0	24	126				
CFH	3075	broad.mit.edu	37	1	196658702	196658702	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:196658702C>T	ENST00000359637.2	+	7	987	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	CFH_ENST00000439155.2_Missense_Mutation_p.H373Y|CFH_ENST00000367429.4_Missense_Mutation_p.H373Y			P08603	CFAH_HUMAN	complement factor H	373	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGATCACATTCATTGCACACA	0.393																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(1117-1119)CAT>TAT		complement factor H isoform a precursor							120.0	118.0	119.0					1																	196658702		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658702C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.925C>T	1.37:g.196658702C>T	ENSP00000352658:p.His309Tyr					CFH_uc001gti.3_Missense_Mutation_p.H373Y|CFH_uc009wyw.2_Missense_Mutation_p.H348Y|CFH_uc009wyx.2_Missense_Mutation_p.H309Y	p.H373Y	NM_000186	NP_000177	P08603	CFAH_HUMAN			8	1357	+			373			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1117C>T		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.959195	0.00465	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.65178	-0.14;-0.14;-0.14	5.61	-11.2	0.00127	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.34077	0.0885	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.18741	0.03;0.002;0.0;0.001	B;B;B;B	0.30495	0.116;0.005;0.001;0.003	T	0.15578	-1.0432	9	0.02654	T	1	.	8.7773	0.34769	0.4884:0.3662:0.0:0.1454	.	309;373;373;373	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	Y	373;373;373;309	ENSP00000356399:H373Y;ENSP00000402656:H373Y;ENSP00000352658:H309Y	ENSP00000352658:H309Y	H	+	1	0	CFH	194925325	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.559000	0.02162	-4.748000	0.00033	-0.961000	0.02630	CAT		0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		9	130	0	0	0	0	9	130				
URB2	9816	broad.mit.edu	37	1	229773396	229773396	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:229773396C>A	ENST00000258243.2	+	4	3172	c.3036C>A	c.(3034-3036)ctC>ctA	p.L1012L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1012						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCAGATGCTCATCCAAATGA	0.448																																						uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(3034-3036)CTC>CTA		URB2 ribosome biogenesis 2 homolog							77.0	76.0	76.0					1																	229773396		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773396C>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3036C>A	1.37:g.229773396C>A						URB2_uc009xfd.1_Silent_p.L1012L	p.L1012L	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3172	+			1012					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.3036C>A	CCDS31052.1																																																																																				0.448	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		26	49	1	0	1.64e-13	2e-13	26	49				
OR2C3	81472	broad.mit.edu	37	1	247695697	247695697	+	Silent	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:247695697C>G	ENST00000366487.3	-	2	478	c.117G>C	c.(115-117)tcG>tcC	p.S39S	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	39						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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCCCAAGATCGATACCATGT	0.473																																						uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(115-117)TCG>TCC		olfactory receptor, family 2, subfamily C,							150.0	130.0	137.0					1																	247695697		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695697C>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.117G>C	1.37:g.247695697C>G						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.S39S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	479	-	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	39			Helical; Name=1; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.117G>C	CCDS1634.2																																																																																				0.473	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		25	109	0	0	0	0	25	109				
OR5I1	10798	broad.mit.edu	37	11	55703033	55703033	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:55703033T>C	ENST00000301532.3	-	1	843	c.844A>G	c.(844-846)Att>Gtt	p.I282V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	282					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAATGAAAATGGTGTAGAAC	0.383																																						uc010ris.1		NA																	0				ovary(1)	1						c.(844-846)ATT>GTT		olfactory receptor, family 5, subfamily I,							70.0	69.0	69.0					11																	55703033		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703033T>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.844A>G	11.37:g.55703033T>C	ENSP00000301532:p.Ile282Val						p.I282V	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	844	-			282			Helical; Name=7; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.844A>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072569	0.01918	.	.	ENSG00000167825	ENST00000301532	T	0.00014	9.22	4.96	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.00039	0.0001	N	0.00521	-1.4	0.09310	N	1	B	0.26935	0.164	B	0.31442	0.13	T	0.43212	-0.9405	10	0.02654	T	1	.	4.9432	0.13976	0.0:0.334:0.3137:0.3523	.	282	Q13606	OR5I1_HUMAN	V	282	ENSP00000301532:I282V	ENSP00000301532:I282V	I	-	1	0	OR5I1	55459609	0.000000	0.05858	0.035000	0.18076	0.952000	0.60782	-1.754000	0.01816	-0.240000	0.09696	0.523000	0.50628	ATT		0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		12	26	0	0	0	0	12	26				
MS4A12	54860	broad.mit.edu	37	11	60264874	60264874	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:60264874C>A	ENST00000016913.4	+	2	140	c.83C>A	c.(82-84)cCt>cAt	p.P28H	MS4A12_ENST00000537076.1_Missense_Mutation_p.P28H|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	28						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTATGGCTCCTGGATTTCAA	0.478																																						uc001npr.2		NA																	0					0						c.(82-84)CCT>CAT		membrane-spanning 4-domains, subfamily A, member							100.0	99.0	99.0					11																	60264874		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60264874C>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.83C>A	11.37:g.60264874C>A	ENSP00000016913:p.Pro28His					MS4A12_uc009ynb.2_Missense_Mutation_p.P28H	p.P28H	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			2	140	+			28			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.83C>A	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110276	0.20714	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.42900	1.96;0.96;3.53;0.96	4.59	2.62	0.31277	.	19.601600	0.00166	N	0.000000	T	0.52484	0.1737	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.74023	0.982;0.888	T	0.35822	-0.9773	10	0.72032	D	0.01	.	6.6055	0.22724	0.0:0.7196:0.1803:0.1001	.	28;28	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	H	28	ENSP00000440424:P28H;ENSP00000431959:P28H;ENSP00000016913:P28H;ENSP00000434783:P28H	ENSP00000016913:P28H	P	+	2	0	MS4A12	60021450	0.000000	0.05858	0.017000	0.16124	0.065000	0.16274	-0.268000	0.08607	0.583000	0.29574	0.563000	0.77884	CCT		0.478	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			27	83	1	0	2.49e-11	2.98e-11	27	83				
PC	5091	broad.mit.edu	37	11	66617874	66617874	+	Silent	SNP	G	G	A	rs534635326		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:66617874G>A	ENST00000393958.2	-	18	2628	c.2535C>T	c.(2533-2535)taC>taT	p.Y845Y	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.Y845Y|PC_ENST00000393955.2_Silent_p.Y845Y|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	845					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGAAGGCCGCGTACAGTCCCC	0.597																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2533-2535)TAC>TAT		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						66.0	64.0	64.0					11																	66617874		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617874G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2535C>T	11.37:g.66617874G>A						PC_uc001ojo.1_Silent_p.Y845Y|PC_uc001ojp.1_Silent_p.Y845Y|PC_uc001ojm.1_5'Flank	p.Y845Y	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	17	2584	-		Melanoma(852;0.0525)	845					B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.2535C>T	CCDS8152.1																																																																																				0.597	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		9	87	0	0	0	0	9	87				
MMP8	4317	broad.mit.edu	37	11	102585393	102585393	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:102585393G>A	ENST00000236826.3	-	8	1182	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	362					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ATATCCTTGGGATAACCTTGC	0.383																																						uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.(1084-1086)CCC>TCC		matrix metalloproteinase 8 preproprotein							87.0	84.0	85.0					11																	102585393		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102585393G>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1084C>T	11.37:g.102585393G>A	ENSP00000236826:p.Pro362Ser					MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.P339S	p.P362S	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	8	1183	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	362			Hemopexin-like 2.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1084C>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050501	0.75960	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.58940	0.3	5.58	5.58	0.84498	Hemopexin/matrixin (2);	0.000000	0.56097	D	0.000027	D	0.84088	0.5395	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.977;1.0	D	0.88585	0.3139	10	0.87932	D	0	.	19.1912	0.93667	0.0:0.0:1.0:0.0	.	362;362	A8K9E4;P22894	.;MMP8_HUMAN	S	362;339	ENSP00000236826:P362S	ENSP00000236826:P362S	P	-	1	0	MMP8	102090603	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	8.437000	0.90302	2.623000	0.88846	0.585000	0.79938	CCC		0.383	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		10	174	0	0	0	0	10	174				
PARP11	57097	broad.mit.edu	37	12	3935380	3935380	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:3935380G>A	ENST00000228820.4	-	4	432	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PARP11_ENST00000427057.2_Silent_p.L15L|PARP11_ENST00000397096.2_Silent_p.L89L|PARP11_ENST00000447133.3_Silent_p.L15L	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	89	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCAGTGGTGAGATTCATTT	0.358																																						uc001qmk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(265-267)CTC>CTT		poly (ADP-ribose) polymerase family, member 11							124.0	131.0	128.0					12																	3935380		2203	4300	6503	SO:0001819	synonymous_variant	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3935380G>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.288C>T	12.37:g.3935380G>A						PARP11_uc001qml.2_Silent_p.L96L|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Silent_p.L15L|PARP11_uc001qmn.2_Silent_p.L15L	p.L89L	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		3	322	-			89			WWE.		B4DRQ0|Q68DS1|Q8N5Y9	Silent	SNP	ENST00000228820.4	37	c.267C>T	CCDS8523.2																																																																																				0.358	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			23	172	0	0	0	0	23	172				
DPPA3	359787	broad.mit.edu	37	12	7864205	7864205	+	Silent	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:7864205G>T	ENST00000345088.2	+	1	156	c.39G>T	c.(37-39)ggG>ggT	p.G13G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	13					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACATCCCAGGGTCTCCACAAA	0.483																																						uc001qtf.2		NA																	0					0						c.(37-39)GGG>GGT		stella							72.0	61.0	65.0					12																	7864205		2203	4300	6503	SO:0001819	synonymous_variant	359787					cytoplasm|nucleus		g.chr12:7864205G>T	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.39G>T	12.37:g.7864205G>T							p.G13G	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	1	117	+			13					Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	37	c.39G>T	CCDS8582.1																																																																																				0.483	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		3	43	1	0	0.004672	0.00501936	3	43				
PDZRN4	29951	broad.mit.edu	37	12	41966610	41966610	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:41966610G>A	ENST00000402685.2	+	10	2037	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E417K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E419K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	677							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAAACATTGAGCTTGAGTG	0.453																																						uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1432-1434)GAG>AAG		PDZ domain containing RING finger 4 isoform 2							108.0	97.0	100.0					12																	41966610		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966610G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2029G>A	12.37:g.41966610G>A	ENSP00000384197:p.Glu677Lys					PDZRN4_uc001rmq.3_Missense_Mutation_p.E419K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E417K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E304K	p.E478K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1500	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	677			Potential.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1432G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516829	0.85495	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.78924	-1.22;3.29;3.28	4.49	4.49	0.54785	.	0.072518	0.56097	N	0.000031	D	0.88262	0.6389	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.935;0.996;0.996	D	0.89855	0.4012	10	0.72032	D	0.01	-29.5626	18.0664	0.89392	0.0:0.0:1.0:0.0	.	677;417;419	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	677;419;417	ENSP00000384197:E677K;ENSP00000439990:E419K;ENSP00000298919:E417K	ENSP00000298919:E417K	E	+	1	0	PDZRN4	40252877	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	9.813000	0.99286	2.455000	0.83008	0.650000	0.86243	GAG		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		13	80	0	0	0	0	13	80				
KMT2D	8085	broad.mit.edu	37	12	49434544	49434544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:49434544G>A	ENST00000301067.7	-	31	7008	c.7009C>T	c.(7009-7011)Cag>Tag	p.Q2337*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2337	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCTCTACCTGAGATGCCCGA	0.627																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(7009-7011)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							19.0	22.0	21.0					12																	49434544		1838	4075	5913	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434544G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7009C>T	12.37:g.49434544G>A	ENSP00000301067:p.Gln2337*	HNSCC(34;0.089)					p.Q2337*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7009	-			2337			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7009C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.354108	0.99737	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.07	5.07	0.68467	.	0.000000	0.36409	N	0.002604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.611	0.88053	0.0:0.0:1.0:0.0	.	.	.	.	X	2337	.	ENSP00000301067:Q2337X	Q	-	1	0	MLL2	47720811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.603000	0.54074	2.536000	0.85505	0.655000	0.94253	CAG		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	38	0	0	0	0	17	38				
NCKAP1L	3071	broad.mit.edu	37	12	54936370	54936370	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:54936370G>A	ENST00000293373.6	+	31	3364	c.3285G>A	c.(3283-3285)gaG>gaA	p.E1095E	NCKAP1L_ENST00000545638.2_Silent_p.E1045E|RP11-1049A21.2_ENST00000547942.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1095					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGTGGAGGAGTCATCCTTCC	0.527																																						uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3283-3285)GAG>GAA		NCK-associated protein 1-like							206.0	181.0	189.0					12																	54936370		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54936370G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3285G>A	12.37:g.54936370G>A						NCKAP1L_uc010sox.1_Silent_p.E637E|NCKAP1L_uc010soy.1_Silent_p.E1045E	p.E1095E	NM_005337	NP_005328	P55160	NCKPL_HUMAN			31	3364	+			1095					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.3285G>A	CCDS31813.1																																																																																				0.527	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		18	136	0	0	0	0	18	136				
LRIG3	121227	broad.mit.edu	37	12	59266402	59266402	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:59266402T>G	ENST00000320743.3	-	19	3598	c.3312A>C	c.(3310-3312)ttA>ttC	p.L1104F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L1044F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1104					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTAGTTTTCTAAAGTCTGTT	0.383			T	ROS1	NSCLC																																	uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(3310-3312)TTA>TTC		leucine-rich repeats and immunoglobulin-like							69.0	77.0	75.0					12																	59266402		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59266402T>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3312A>C	12.37:g.59266402T>G	ENSP00000326759:p.Leu1104Phe					LRIG3_uc009zqh.2_Missense_Mutation_p.L1044F|LRIG3_uc010ssh.1_RNA	p.L1104F	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		19	3558	-			1104					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.3312A>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	6.105	0.387723	0.11581	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.60424	0.24;0.19	5.68	-1.66	0.08265	.	0.697847	0.11191	N	0.589861	T	0.30696	0.0773	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.13388	-1.0511	9	.	.	.	.	1.7211	0.02911	0.2123:0.3544:0.1043:0.329	.	1044;1104	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	1044;1104	ENSP00000368436:L1044F;ENSP00000326759:L1104F	.	L	-	3	2	LRIG3	57552669	0.998000	0.40836	0.059000	0.19551	0.455000	0.32408	0.845000	0.27668	-0.043000	0.13513	0.460000	0.39030	TTA		0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		16	98	0	0	0	0	16	98				
DPY19L2	283417	broad.mit.edu	37	12	64041067	64041067	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:64041067C>T	ENST00000324472.4	-	5	850	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	223					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTCTGGTGACATTCCAGCAG	0.318																																						uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(667-669)GTC>ATC		dpy-19-like 2							38.0	42.0	40.0					12																	64041067		2200	4280	6480	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041067C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.667G>A	12.37:g.64041067C>T	ENSP00000315988:p.Val223Ile					DPY19L2_uc009zqk.1_RNA	p.V223I	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	848	-			223					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.667G>A	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633869	0.29068	.	.	ENSG00000177990	ENST00000324472	T	0.44881	0.91	2.35	2.35	0.29111	.	0.162448	0.40640	U	0.001047	T	0.46737	0.1408	L	0.56199	1.76	0.80722	D	1	P	0.44659	0.84	P	0.53809	0.735	T	0.35943	-0.9768	9	.	.	.	.	8.2163	0.31514	0.0:1.0:0.0:0.0	.	223	Q6NUT2	D19L2_HUMAN	I	223	ENSP00000315988:V223I	.	V	-	1	0	DPY19L2	62327334	1.000000	0.71417	0.996000	0.52242	0.704000	0.40688	3.223000	0.51231	1.313000	0.45069	0.184000	0.17185	GTC		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		17	133	0	0	0	0	17	133				
PIWIL1	9271	broad.mit.edu	37	12	130847537	130847537	+	Splice_Site	SNP	G	G	A	rs200510720		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:130847537G>A	ENST00000245255.3	+	18	2315	c.2043G>A	c.(2041-2043)gcG>gcA	p.A681A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	681	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGTTTCAGCGGCTCTGAGGG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17814	0.001		0.0	False		,,,				2504	0.0					uc001uik.2		NA																	0				ovary(2)	2						c.(2041-2043)GCG>GCA		piwi-like 1							95.0	96.0	96.0					12																	130847537		2203	4300	6503	SO:0001630	splice_region_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847537G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2042-1G>A	12.37:g.130847537G>A						PIWIL1_uc001uij.1_Silent_p.A681A	p.A681A	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2133	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		681			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.2043G>A	CCDS9268.1																																																																																				0.512	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		Silent	26	62	0	0	0	0	26	62				
WASF3	10810	broad.mit.edu	37	13	27255411	27255411	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:27255411C>T	ENST00000335327.5	+	8	1115	c.937C>T	c.(937-939)Cca>Tca	p.P313S	WASF3_ENST00000361042.4_Missense_Mutation_p.P310S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	313					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTCAGGCCCCAGAGGGGTC	0.652																																						uc001uqv.2		NA																	0				pancreas(1)	1						c.(937-939)CCA>TCA		WAS protein family, member 3							26.0	34.0	32.0					13																	27255411		2180	4263	6443	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255411C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.937C>T	13.37:g.27255411C>T	ENSP00000335055:p.Pro313Ser					WASF3_uc001uqw.2_Missense_Mutation_p.P310S	p.P313S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1162	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	313					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.937C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	3.677	-0.066245	0.07273	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.39592	1.07;1.07	6.07	-2.51	0.06365	.	0.769623	0.13179	N	0.407661	T	0.11196	0.0273	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27706	-1.0066	10	0.06365	T	0.9	-0.4658	2.7343	0.05236	0.3242:0.091:0.4106:0.1741	.	310;313	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	S	310;313	ENSP00000354325:P310S;ENSP00000335055:P313S	ENSP00000335055:P313S	P	+	1	0	WASF3	26153411	0.000000	0.05858	0.081000	0.20488	0.914000	0.54420	-0.046000	0.11983	-0.371000	0.08004	0.650000	0.86243	CCA		0.652	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			32	97	0	0	0	0	32	97				
BRCA2	675	broad.mit.edu	37	13	32936727	32936727	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:32936727A>T	ENST00000380152.3	+	17	8106	c.7873A>T	c.(7873-7875)Aga>Tga	p.R2625*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.R2625*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2625					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCACTATAGATGGATCAT	0.368			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7873-7875)AGA>TGA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							102.0	101.0	102.0					13																	32936727		2203	4300	6503	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32936727A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7873A>T	13.37:g.32936727A>T	ENSP00000369497:p.Arg2625*	TCGA Ovarian(8;0.087)					p.R2625*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8100	+		Lung SC(185;0.0262)	2625					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.7873A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	51	17.318185	0.99884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.66	5.66	0.87406	.	0.051967	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0858	0.53695	0.8566:0.1434:0.0:0.0	.	.	.	.	X	2625	.	ENSP00000369497:R2625X	R	+	1	2	BRCA2	31834727	0.864000	0.29904	0.997000	0.53966	0.974000	0.67602	1.446000	0.35090	2.279000	0.76181	0.533000	0.62120	AGA		0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	72	0	0	0	0	26	72				
SPTB	6710	broad.mit.edu	37	14	65239589	65239589	+	Silent	SNP	G	G	A	rs142168941		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:65239589G>A	ENST00000389721.5	-	25	5294	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	SPTB_ENST00000556626.1_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000389722.3_Silent_p.I1754I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637																																						uc001xht.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(5260-5262)ATC>ATT		spectrin beta isoform b		G	,	1,4405	2.1+/-5.4	0,1,2202	49.0	43.0	45.0		5262,5262	-2.2	1.0	14	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1754/2138,1754/2329	65239589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239589G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5262C>T	14.37:g.65239589G>A						SPTB_uc001xhr.2_Silent_p.I1754I|SPTB_uc001xhs.2_Silent_p.I1754I|SPTB_uc001xhu.2_Silent_p.I1754I|SPTB_uc010aqi.2_Silent_p.I415I	p.I1754I	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5316	-		all_lung(585;4.15e-09)	1754			Spectrin 14.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5262C>T	CCDS32100.1																																																																																				0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			12	21	0	0	0	0	12	21				
ABCD4	5826	broad.mit.edu	37	14	74766262	74766262	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:74766262G>C	ENST00000356924.4	-	3	417	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	ABCD4_ENST00000298816.7_Missense_Mutation_p.L5V|ABCD4_ENST00000557588.1_Missense_Mutation_p.L92V|ABCD4_ENST00000557554.1_5'UTR	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	92	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GTGGAGTTCAGAACAATGAGC	0.512																																						uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(274-276)CTG>GTG		ATP-binding cassette, sub-family D, member 4							192.0	147.0	162.0					14																	74766262		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74766262G>C	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.274C>G	14.37:g.74766262G>C	ENSP00000349396:p.Leu92Val					ABCD4_uc001xps.2_Intron|ABCD4_uc001xpt.2_Intron|ABCD4_uc010tur.1_Missense_Mutation_p.L5V|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Intron	p.L92V	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	3	426	-			92			ABC transmembrane type-1.|Helical; (Potential).		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.274C>G	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.955|1.955	-0.440223|-0.440223	0.04636|0.04636	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000556971|ENST00000356924;ENST00000298816;ENST00000557588	.|D;D;D	.|0.99637	.|-3.52;-6.29;-3.52	5.8|5.8	1.68|1.68	0.24146|0.24146	.|ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	.|0.261528	.|0.37857	.|N	.|0.001912	D|D	0.97773|0.97773	0.9269|0.9269	L|L	0.39397|0.39397	1.21|1.21	0.22968|0.22968	N|N	0.998499|0.998499	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.11329	.|0.004;0.006	D|D	0.93673|0.93673	0.6992|0.6992	5|10	.|0.16420	.|T	.|0.52	.|.	9.8846|9.8846	0.41253|0.41253	0.1324:0.4708:0.3968:0.0|0.1324:0.4708:0.3968:0.0	.|.	.|5;92	.|F8W7M4;O14678	.|.;ABCD4_HUMAN	L|V	51|92;5;92	.|ENSP00000349396:L92V;ENSP00000298816:L5V;ENSP00000451993:L92V	.|ENSP00000298816:L5V	F|L	-|-	3|1	2|2	ABCD4|ABCD4	73836015|73836015	0.104000|0.104000	0.21937|0.21937	0.681000|0.681000	0.30009|0.30009	0.980000|0.980000	0.70556|0.70556	0.344000|0.344000	0.19962|0.19962	0.332000|0.332000	0.23536|0.23536	0.655000|0.655000	0.94253|0.94253	TTC|CTG		0.512	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		20	72	0	0	0	0	20	72				
NRXN3	9369	broad.mit.edu	37	14	79181301	79181301	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:79181301G>C	ENST00000554719.1	+	5	1235	c.744G>C	c.(742-744)aaG>aaC	p.K248N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K248N	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)		GGCGCAGCAAGAACATTCGAC	0.557																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(742-744)AAG>AAC		neurexin 3 isoform 1 precursor							72.0	61.0	65.0					14																	79181301		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79181301G>C	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.744G>C	14.37:g.79181301G>C	ENSP00000451648:p.Lys248Asn					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K382N	p.K248N	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)	5	1235	+		Renal(4;0.00876)	621			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.744G>C	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232924	0.58777	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79247	-1.25;-1.25	5.96	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.051116	0.85682	D	0.000000	D	0.85944	0.5815	.	.	.	0.44104	D	0.996879	D;D	0.89917	1.0;0.991	D;P	0.85130	0.997;0.748	D	0.84191	0.0445	8	.	.	.	.	9.9456	0.41607	0.262:0.0:0.738:0.0	.	621;248	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	N	621;619;248;248	ENSP00000451648:K248N;ENSP00000338349:K248N	.	K	+	3	2	NRXN3	78251054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.974000	0.40559	0.412000	0.25729	0.650000	0.86243	AAG		0.557	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		11	36	0	0	0	0	11	36				
LTK	4058	broad.mit.edu	37	15	41797201	41797201	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:41797201C>T	ENST00000263800.6	-	16	2083	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R	LTK_ENST00000355166.5_Missense_Mutation_p.G602R|LTK_ENST00000453182.2_Missense_Mutation_p.G533R|LTK_ENST00000561619.1_Missense_Mutation_p.G361R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCAAAGTCCCCAATCTTGGCC	0.567										TSP Lung(18;0.14)																												uc001zoa.3		NA																	0				lung(6)|central_nervous_system(1)	7						c.(1987-1989)GGG>AGG		leukocyte receptor tyrosine kinase isoform 1							45.0	45.0	45.0					15																	41797201		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797201C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1987G>A	15.37:g.41797201C>T	ENSP00000263800:p.Gly663Arg	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.G602R|LTK_uc010ucx.1_Missense_Mutation_p.G533R|LTK_uc010bcg.2_Missense_Mutation_p.G361R	p.G663R	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	16	2165	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	663			Protein kinase.|Cytoplasmic (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1987G>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543652	0.86022	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.83673	-1.75;-1.75;-1.75	4.71	3.79	0.43588	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33217	U	0.005148	D	0.90906	0.7142	M	0.85710	2.77	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.963;0.999;1.0	D	0.91781	0.5435	10	0.87932	D	0	.	12.0715	0.53620	0.0:0.9153:0.0:0.0847	.	533;533;602;663	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	R	602;663;533	ENSP00000347293:G602R;ENSP00000263800:G663R;ENSP00000392196:G533R	ENSP00000263800:G663R	G	-	1	0	LTK	39584493	0.995000	0.38212	0.997000	0.53966	0.998000	0.95712	1.799000	0.38824	1.212000	0.43366	0.650000	0.86243	GGG		0.567	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			11	32	0	0	0	0	11	32				
THSD4	79875	broad.mit.edu	37	15	72023537	72023538	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72023537_72023538GC>AT	ENST00000355327.3	+	10	1745_1746	c.1611_1612GC>AT	c.(1609-1614)gtGCca>gtATca	p.P538S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.P538S|THSD4_ENST00000357769.4_Missense_Mutation_p.P178S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	538					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCCCAGGTGCCACCCCACAG	0.54											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002atb.1		NA																	0				ovary(2)	2						c.(1609-1614)GTGCCA>GTATCA		thrombospondin, type I, domain containing 4																																				SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72023537_72023538GC>AT	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	Exception_encountered	15.37:g.72023537_72023538delinsAT	ENSP00000347484:p.Pro538Ser		OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Missense_Mutation_p.P178S|THSD4_uc002ate.2_Missense_Mutation_p.P178S	p.P538S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			9	1690_1691	+			538					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	DNP	ENST00000355327.3	37	c.1611_1612GC>AT	CCDS10238.2																																																																																				0.540	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		8	47	0	0	0	0	8	47				
SMG1	23049	broad.mit.edu	37	16	18881315	18881315	+	Splice_Site	SNP	T	T	C	rs80176913		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:18881315T>C	ENST00000446231.2	-	19	2906	c.2494A>G	c.(2494-2496)Aat>Gat	p.N832D	SMG1_ENST00000389467.3_Splice_Site_p.N832D|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	832	Interaction with SMG8 and SMG9.		N -> D (in dbSNP:rs192246457). {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTGTTATTGCTGTAGACA	0.318																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(2494-2496)AAT>GAT		PI-3-kinase-related kinase SMG-1							9.0	8.0	8.0					16																	18881315		1608	3585	5193	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18881315T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2493-1A>G	16.37:g.18881315T>C						SMG1_uc010bwb.2_Missense_Mutation_p.N692D	p.N832D	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			19	2857	-			832		N -> D.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2494A>G	CCDS45430.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	T	12.45	1.940777	0.34283	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.10763	2.84;2.84	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.04497	0.0123	L	0.38175	1.15	0.29616	N	0.846547	B	0.33073	0.396	B	0.26202	0.067	T	0.08166	-1.0735	10	0.26408	T	0.33	.	16.1323	0.81449	0.0:0.0:0.0:1.0	.	832	Q96Q15	SMG1_HUMAN	D	832	ENSP00000402515:N832D;ENSP00000374118:N832D	ENSP00000374118:N832D	N	-	1	0	SMG1	18788816	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.552000	0.60747	2.223000	0.72356	0.454000	0.30748	AAT		0.318	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Missense_Mutation	5	9	0	0	0	0	5	9				
DNAH3	55567	broad.mit.edu	37	16	20998737	20998737	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:20998737C>T	ENST00000261383.3	-	47	6915	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2306					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGATAAACCTCATGGATCCAA	0.428																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6916-6918)GAG>AAG		dynein, axonemal, heavy chain 3							95.0	92.0	93.0					16																	20998737		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20998737C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6916G>A	16.37:g.20998737C>T	ENSP00000261383:p.Glu2306Lys					DNAH3_uc010vbd.1_5'Flank	p.E2306K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	47	6916	-			2306					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6916G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532671	0.96446	.	.	ENSG00000158486	ENST00000261383	T	0.48201	0.82	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90724	0.4637	10	0.87932	D	0	.	19.9365	0.97143	0.0:1.0:0.0:0.0	.	2306	Q8TD57	DYH3_HUMAN	K	2306	ENSP00000261383:E2306K	ENSP00000261383:E2306K	E	-	1	0	DNAH3	20906238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.721000	0.93114	0.585000	0.79938	GAG		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		15	82	0	0	0	0	15	82				
UBFD1	56061	broad.mit.edu	37	16	23570829	23570829	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:23570829C>T	ENST00000395878.3	+	3	777	c.396C>T	c.(394-396)ctC>ctT	p.L132L	EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567212.1_Silent_p.L123L|EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000567264.1_Silent_p.L132L|UBFD1_ENST00000219638.4_Silent_p.L356L|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	132	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAGGGACTCGTCCCCGAGG	0.458																																					Melanoma(22;290 1069 22358 48158)	uc002dlv.2		NA																	0					0						c.(394-396)CTC>CTT		ubiquitin-binding protein homolog							45.0	45.0	45.0					16																	23570829		1866	4113	5979	SO:0001819	synonymous_variant	56061							g.chr16:23570829C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.396C>T	16.37:g.23570829C>T						EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	p.L132L	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	3	598	+			132			Ubiquitin-like.		A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.396C>T	CCDS10613.2																																																																																				0.458	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		8	40	0	0	0	0	8	40				
GTF3C1	2975	broad.mit.edu	37	16	27483198	27483198	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:27483198T>C	ENST00000356183.4	-	30	4412	c.4397A>G	c.(4396-4398)aAg>aGg	p.K1466R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1466R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1466					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATGAAGGCCTTCACAAGAAC	0.627																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4396-4398)AAG>AGG		general transcription factor IIIC, polypeptide							72.0	62.0	65.0					16																	27483198		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27483198T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4397A>G	16.37:g.27483198T>C	ENSP00000348510:p.Lys1466Arg					GTF3C1_uc002dou.2_Missense_Mutation_p.K1466R	p.K1466R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			30	4437	-			1466					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4397A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719198	0.30503	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24151	1.87	5.19	-0.905	0.10527	.	0.362051	0.28595	N	0.014797	T	0.16342	0.0393	L	0.41710	1.295	0.23243	N	0.998052	B;B	0.17038	0.015;0.02	B;B	0.16722	0.011;0.016	T	0.34378	-0.9831	10	0.13853	T	0.58	-19.7251	9.5638	0.39385	0.0:0.3698:0.0:0.6302	.	1466;1466	Q12789;Q12789-3	TF3C1_HUMAN;.	R	1466;1462	ENSP00000348510:K1466R	ENSP00000348510:K1466R	K	-	2	0	GTF3C1	27390699	1.000000	0.71417	0.065000	0.19835	0.966000	0.64601	1.222000	0.32515	-0.475000	0.06852	0.533000	0.62120	AAG		0.627	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		18	62	0	0	0	0	18	62				
HPR	3250	broad.mit.edu	37	16	72110554	72110554	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:72110554C>T	ENST00000540303.2	+	5	653	c.621C>T	c.(619-621)atC>atT	p.I207I	HPR_ENST00000356967.5_Silent_p.I207I|HPR_ENST00000228226.8_Silent_p.I244I|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.I207M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGATGCCCATCTGCCTACCTT	0.448																																						uc002fby.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(619-621)ATC>ATT		haptoglobin-related protein precursor							176.0	125.0	142.0					16																	72110554		2006	4164	6170	SO:0001819	synonymous_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110554C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.621C>T	16.37:g.72110554C>T						TXNL4B_uc010cgl.2_Intron	p.I207I	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	651	+		Ovarian(137;0.125)	207			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	c.621C>T	CCDS42193.1																																																																																				0.448	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		19	141	0	0	0	0	19	141				
DNAAF1	123872	broad.mit.edu	37	16	84203819	84203819	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:84203819A>G	ENST00000378553.5	+	8	1509	c.1385A>G	c.(1384-1386)cAa>cGa	p.Q462R	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	462	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GATGGAGATCAAGAGCCAGAG	0.612																																						uc002fhl.3		NA																	0					0						c.(1384-1386)CAA>CGA		leucine rich repeat containing 50							53.0	53.0	53.0					16																	84203819		2199	4300	6499	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203819A>G	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1385A>G	16.37:g.84203819A>G	ENSP00000367815:p.Gln462Arg					LRRC50_uc010vnw.1_Missense_Mutation_p.Q226R	p.Q462R	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			8	1566	+			462			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1385A>G	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.641654	0.00799	.	.	ENSG00000154099	ENST00000378553	T	0.25414	1.8	0.622	-1.24	0.09435	.	.	.	.	.	T	0.08582	0.0213	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31447	-0.9943	8	0.14656	T	0.56	.	.	.	.	.	226;462	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	R	462	ENSP00000367815:Q462R	ENSP00000367815:Q462R	Q	+	2	0	DNAAF1	82761320	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.857000	0.01660	-1.415000	0.02022	-0.609000	0.04063	CAA		0.612	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		11	120	0	0	0	0	11	120				
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655|rs397516437		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:7577556C>T	ENST00000269305.4	-	7	914	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y|TP53_ENST00000455263.2_Missense_Mutation_p.C242Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577556C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>A	17.37:g.7577556C>T	ENSP00000269305:p.Cys242Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.2_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y	p.C242Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430778	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242Y;ENSP00000352610:C242Y;ENSP00000269305:C242Y;ENSP00000398846:C242Y;ENSP00000391127:C242Y;ENSP00000391478:C242Y;ENSP00000425104:C110Y;ENSP00000423862:C149Y	ENSP00000269305:C242Y	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	62	0	0	0	0	36	62				
SCO1	6341	broad.mit.edu	37	17	10584496	10584496	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:10584496C>T	ENST00000255390.5	-	6	906	c.846G>A	c.(844-846)agG>agA	p.R282R	SCO1_ENST00000577427.1_Silent_p.R251R|CTC-297N7.10_ENST00000584139.1_RNA	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	282					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TTTCTCCCTTCCTCTTGTTCT	0.438																																					Melanoma(128;591 1731 19711 31891 44645)	uc002gmr.3		NA																	0					0						c.(844-846)AGG>AGA		cytochrome oxidase deficient homolog 1							178.0	165.0	169.0					17																	10584496		2203	4300	6503	SO:0001819	synonymous_variant	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10584496C>T	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.846G>A	17.37:g.10584496C>T						SCO1_uc002gms.3_Silent_p.R251R	p.R282R	NM_004589	NP_004580	O75880	SCO1_HUMAN			6	907	-			282					B2RDM0	Silent	SNP	ENST00000255390.5	37	c.846G>A	CCDS11158.1																																																																																				0.438	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		46	74	0	0	0	0	46	74				
MKNK2	2872	broad.mit.edu	37	19	2041985	2041985	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2041985C>G	ENST00000591601.1	-	10	834	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	MKNK2_ENST00000591142.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000541165.1_Missense_Mutation_p.E136Q|MKNK2_ENST00000591588.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000588014.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000309340.7_Missense_Mutation_p.E267Q|MKNK2_ENST00000250896.3_Missense_Mutation_p.E267Q			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGCCTCCTCGCTGAAGGCC	0.667																																						uc002lus.2		NA																	0				lung(1)|breast(1)	2						c.(799-801)GAG>CAG		MAP kinase-interacting serine/threonine kinase 2							30.0	24.0	26.0					19																	2041985		2169	4256	6425	SO:0001583	missense	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041985C>G	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.799G>C	19.37:g.2041985C>G	ENSP00000467811:p.Glu267Gln					MKNK2_uc002luq.1_Missense_Mutation_p.E11Q|MKNK2_uc010xgu.1_Missense_Mutation_p.E106Q|MKNK2_uc010xgv.1_Missense_Mutation_p.E136Q|MKNK2_uc002lur.2_Missense_Mutation_p.E267Q|MKNK2_uc002lut.1_Missense_Mutation_p.E11Q	p.E267Q	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1044	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	267			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	c.799G>C	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309337	0.81247	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.69926	-0.35;-0.31;-0.44	4.03	4.03	0.46877	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	0.67126	0.2860	N	0.16066	0.365	0.80722	D	1	P;D;P;P	0.69078	0.805;0.997;0.942;0.876	P;D;P;P	0.72625	0.677;0.978;0.828;0.745	T	0.68439	-0.5408	10	0.33940	T	0.23	-12.5581	15.3256	0.74160	0.0:1.0:0.0:0.0	.	72;267;267;169	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	Q	267;267;136;207	ENSP00000309485:E267Q;ENSP00000250896:E267Q;ENSP00000438904:E136Q	ENSP00000250896:E267Q	E	-	1	0	MKNK2	1992985	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.378000	0.79679	2.073000	0.62155	0.555000	0.69702	GAG		0.667	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		3	8	0	0	0	0	3	8				
TLE6	79816	broad.mit.edu	37	19	2987759	2987759	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2987759G>A	ENST00000246112.4	+	9	797	c.596G>A	c.(595-597)gGa>gAa	p.G199E	TLE6_ENST00000452088.1_Missense_Mutation_p.G76E|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	199					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGACCCAGGAACAGACCCA	0.607																																						uc002lwu.2		NA																	0				ovary(1)	1						c.(226-228)GGA>GAA		transducin-like enhancer of split 6 isoform 2							89.0	86.0	87.0					19																	2987759		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987759G>A	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.596G>A	19.37:g.2987759G>A	ENSP00000246112:p.Gly199Glu					TLE6_uc002lwt.2_Missense_Mutation_p.G199E|TLE6_uc010dtg.2_Missense_Mutation_p.G199E|TLE6_uc002lwv.2_5'UTR	p.G76E	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	627	+			76					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.227G>A	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170834	0.38315	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.18338	2.22;2.27	3.11	-0.81	0.10860	.	.	.	.	.	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50156	0.886;0.872;0.932	B;B;P	0.47470	0.393;0.395;0.548	T	0.15780	-1.0425	9	0.56958	D	0.05	.	3.265	0.06861	0.3991:0.282:0.3189:0.0	.	199;76;76	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	E	199;199;76;76	ENSP00000246112:G199E;ENSP00000406893:G76E	ENSP00000246112:G199E	G	+	2	0	TLE6	2938759	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.633000	0.24598	-0.073000	0.12842	-0.300000	0.09419	GGA		0.607	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		7	91	0	0	0	0	7	91				
CHAF1A	10036	broad.mit.edu	37	19	4418037	4418037	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:4418037A>G	ENST00000301280.5	+	4	1082	c.981A>G	c.(979-981)aaA>aaG	p.K327K		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	327	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCGTCAAAGGCTCTACAG	0.353								Chromatin Structure																														uc002mal.2		NA																	0				ovary(1)|skin(1)	2						c.(979-981)AAA>AAG	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							89.0	93.0	92.0					19																	4418037		2203	4300	6503	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4418037A>G	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.981A>G	19.37:g.4418037A>G							p.K327K	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1081	+		Hepatocellular(1079;0.137)	327			Arg/Glu/Lys-rich.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.981A>G	CCDS32875.1																																																																																				0.353	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		7	97	0	0	0	0	7	97				
ZNF493	284443	broad.mit.edu	37	19	21606460	21606460	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:21606460C>T	ENST00000355504.4	+	2	881	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.F333F	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAGTATTTTCTCAACCCCTA	0.348																																						uc002npx.2		NA																	0				ovary(1)	1						c.(613-615)TTC>TTT		zinc finger protein 493 isoform 1							35.0	39.0	38.0					19																	21606460		2199	4296	6495	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606460C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.615C>T	19.37:g.21606460C>T						ZNF493_uc002npw.2_Silent_p.F333F|ZNF493_uc002npy.2_Silent_p.F205F	p.F205F	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	895	+			205			C2H2-type 7; degenerate.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.615C>T	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	90	0	0	0	0	4	90				
CHST8	64377	broad.mit.edu	37	19	34263477	34263477	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:34263477G>A	ENST00000262622.4	+	4	1542	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CHST8_ENST00000434302.1_Missense_Mutation_p.E262K|CHST8_ENST00000438847.3_Missense_Mutation_p.E262K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	262					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)					CGAGCCCTTCGAGAGGCTGGT	0.617																																						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(784-786)GAG>AAG		carbohydrate (N-acetylgalactosamine 4-0)							100.0	94.0	96.0					19																	34263477		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.chr19:34263477G>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.784G>A	19.37:g.34263477G>A	ENSP00000262622:p.Glu262Lys					CHST8_uc002nut.3_Missense_Mutation_p.E262K|CHST8_uc002nuu.2_Missense_Mutation_p.E262K	p.E262K	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1289	+	Esophageal squamous(110;0.162)		262			PAPS (By similarity).|Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.784G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064948	0.93898	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75260	-0.92;-0.92;-0.92	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.88351	0.6413	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90750	0.4656	10	0.72032	D	0.01	-14.9791	16.9921	0.86356	0.0:0.0:1.0:0.0	.	262	Q9H2A9	CHST8_HUMAN	K	262	ENSP00000392604:E262K;ENSP00000393879:E262K;ENSP00000262622:E262K	ENSP00000262622:E262K	E	+	1	0	CHST8	38955317	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.869000	0.99810	2.241000	0.73720	0.297000	0.19635	GAG		0.617	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		7	95	0	0	0	0	7	95				
LMTK3	114783	broad.mit.edu	37	19	48989041	48989041	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:48989041C>A	ENST00000600059.1	-	15	4599	c.4372G>T	c.(4372-4374)Gtg>Ttg	p.V1458L	LMTK3_ENST00000270238.3_Missense_Mutation_p.V1487L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1458					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAATTCTCCACGGGGCCTGAG	0.572																																						uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(4459-4461)GTG>TTG		lemur tyrosine kinase 3							38.0	43.0	41.0					19																	48989041		1918	4138	6056	SO:0001583	missense	114783							g.chr19:48989041C>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4372G>T	19.37:g.48989041C>A	ENSP00000472020:p.Val1458Leu						p.V1487L	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	16	4459	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.4459G>T		.	.	.	.	.	.	.	.	.	.	C	12.90	2.075295	0.36662	.	.	ENSG00000142235	ENST00000270238	T	0.78246	-1.16	3.22	3.22	0.36961	.	0.378221	0.15755	N	0.246243	T	0.71854	0.3389	N	0.08118	0	0.27147	N	0.961509	P	0.50066	0.931	P	0.60286	0.872	T	0.63594	-0.6602	10	0.52906	T	0.07	.	10.2444	0.43332	0.0:1.0:0.0:0.0	.	1458	Q96Q04	LMTK3_HUMAN	L	1487	ENSP00000270238:V1487L	ENSP00000270238:V1487L	V	-	1	0	LMTK3	53680853	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	3.492000	0.53259	2.120000	0.65058	0.555000	0.69702	GTG		0.572	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		7	15	1	0	0.00307968	0.003321	7	15				
HADHA	3030	broad.mit.edu	37	2	26415267	26415267	+	Missense_Mutation	SNP	T	T	C	rs545660610		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:26415267T>C	ENST00000380649.3	-	18	2041	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	638					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGATAGATGTAAAAGCCC	0.428													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19470	0.0		0.0	False		,,,				2504	0.0					uc002rgy.2		NA																	0				ovary(1)	1						c.(1912-1914)ATC>GTC		mitochondrial trifunctional protein, alpha	NADH(DB00157)						119.0	110.0	113.0					2																	26415267		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26415267T>C	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1912A>G	2.37:g.26415267T>C	ENSP00000370023:p.Ile638Val					HADHA_uc010yks.1_Missense_Mutation_p.I551V	p.I638V	NM_000182	NP_000173	P40939	ECHA_HUMAN			18	2042	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1912A>G	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	8.090	0.774269	0.16051	.	.	ENSG00000084754	ENST00000380649;ENST00000492433	D;D	0.88896	-2.44;-2.44	5.74	4.59	0.56863	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.191523	0.53938	N	0.000041	T	0.70657	0.3249	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.006	T	0.62690	-0.6801	10	0.12103	T	0.63	-22.7486	10.6538	0.45663	0.0:0.0756:0.0:0.9244	.	638;638	E9KL44;P40939	.;ECHA_HUMAN	V	638;124	ENSP00000370023:I638V;ENSP00000438039:I124V	ENSP00000370023:I638V	I	-	1	0	HADHA	26268771	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.391000	0.20784	1.007000	0.39238	0.533000	0.62120	ATC		0.428	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		15	49	0	0	0	0	15	49				
CCDC88A	55704	broad.mit.edu	37	2	55573405	55573405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:55573405C>T	ENST00000436346.1	-	10	1788	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	CCDC88A_ENST00000413716.2_Missense_Mutation_p.R316Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R316Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R316Q|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	316					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTTTCTCTCGAAGTGCATC	0.333																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(946-948)CGA>CAA		coiled-coil domain containing 88A isoform 1							156.0	148.0	151.0					2																	55573405		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55573405C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.947G>A	2.37:g.55573405C>T	ENSP00000410608:p.Arg316Gln					CCDC88A_uc010yoz.1_Missense_Mutation_p.R316Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.R316Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.R218Q	p.R316Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			10	1789	-			316			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.947G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.103792	0.94245	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.26	5.26	0.73747	.	0.000000	0.39909	U	0.001231	T	0.48660	0.1512	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.984;0.992;0.988	T	0.32428	-0.9907	10	0.36615	T	0.2	-9.4514	18.8752	0.92332	0.0:1.0:0.0:0.0	.	316;316;316	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	316	ENSP00000338728:R316Q;ENSP00000263630:R316Q;ENSP00000410608:R316Q;ENSP00000404431:R316Q	ENSP00000263630:R316Q	R	-	2	0	CCDC88A	55426909	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.453000	0.82957	0.655000	0.94253	CGA		0.333	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		30	93	0	0	0	0	30	93				
MERTK	10461	broad.mit.edu	37	2	112732906	112732906	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:112732906T>C	ENST00000295408.4	+	7	1258	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	MERTK_ENST00000409780.1_Missense_Mutation_p.I158T|MERTK_ENST00000421804.2_Missense_Mutation_p.I334T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	334	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCAGTCATGATTTTTAACACC	0.473																																						uc002thk.1		NA																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1000-1002)ATT>ACT		MER receptor tyrosine kinase precursor							179.0	169.0	173.0					2																	112732906		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112732906T>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1001T>C	2.37:g.112732906T>C	ENSP00000295408:p.Ile334Thr					MERTK_uc002thl.1_Missense_Mutation_p.I158T	p.I334T	NM_006343	NP_006334	Q12866	MERTK_HUMAN			7	1123	+			334			Fibronectin type-III 1.|Extracellular (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1001T>C	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	2.976	-0.211385	0.06140	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.54675	0.56;0.56;0.56	5.78	3.38	0.38709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.523412	0.14101	U	0.341346	T	0.27731	0.0682	N	0.05441	-0.05	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.20840	-1.0263	10	0.19147	T	0.46	-1.9471	5.6986	0.17869	0.2621:0.0703:0.0:0.6676	.	334	Q12866	MERTK_HUMAN	T	334;334;158	ENSP00000295408:I334T;ENSP00000389152:I334T;ENSP00000387277:I158T	ENSP00000295408:I334T	I	+	2	0	MERTK	112449377	0.000000	0.05858	0.891000	0.34965	0.985000	0.73830	-0.205000	0.09411	0.445000	0.26639	0.460000	0.39030	ATT		0.473	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			54	166	0	0	0	0	54	166				
MYO7B	4648	broad.mit.edu	37	2	128390861	128390861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:128390861C>A	ENST00000409816.2	+	38	5388	c.5356C>A	c.(5356-5358)Cag>Aag	p.Q1786K	MYO7B_ENST00000389524.4_Missense_Mutation_p.Q1787K|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1786K|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q639K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1786	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCCCGCACCAGGTGGAGGT	0.667																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(5356-5358)CAG>AAG		myosin VIIB							31.0	38.0	36.0					2																	128390861		2043	4179	6222	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128390861C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5356C>A	2.37:g.128390861C>A	ENSP00000386461:p.Gln1786Lys					MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	p.Q1786K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	39	5409	+	Colorectal(110;0.1)		1786			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5356C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.598710	0.46318	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.62	3.79	0.43588	MyTH4 domain (3);	0.836355	0.10892	N	0.622591	D	0.85336	0.5673	L	0.43152	1.355	0.26867	N	0.967824	B	0.26445	0.149	B	0.27380	0.079	T	0.66878	-0.5812	10	0.05959	T	0.93	.	12.1015	0.53788	0.1256:0.6319:0.2425:0.0	.	1786	Q6PIF6	MYO7B_HUMAN	K	1787;1786;882;1786;639	ENSP00000374175:Q1787K;ENSP00000415090:Q1786K;ENSP00000386461:Q1786K;ENSP00000386850:Q639K	ENSP00000272666:Q882K	Q	+	1	0	MYO7B	128107331	0.583000	0.26757	0.999000	0.59377	0.982000	0.71751	1.440000	0.35024	0.683000	0.31428	0.555000	0.69702	CAG		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		4	24	1	0	0.000602214	0.000659242	4	24				
LRP1B	53353	broad.mit.edu	37	2	141457953	141457953	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:141457953T>C	ENST00000389484.3	-	41	7636	c.6665A>G	c.(6664-6666)aAg>aGg	p.K2222R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2222					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)		TATGACATTCTTGAAATAACG	0.318										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.(6664-6666)AAG>AGG		low density lipoprotein-related protein 1B							128.0	136.0	134.0					2																	141457953		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457953T>C	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.6665A>G	2.37:g.141457953T>C	ENSP00000374135:p.Lys2222Arg	TSP Lung(27;0.18)					p.K2222R	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)	41	7637	-		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)	2222			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6665A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007934	0.35415	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	4.47	0.755	0.18415	Six-bladed beta-propeller, TolB-like (1);	0.067647	0.56097	U	0.000022	T	0.81621	0.4861	L	0.39514	1.22	0.33688	D	0.61301	B	0.02656	0.0	B	0.06405	0.002	T	0.70059	-0.4976	10	0.08179	T	0.78	.	8.183	0.31322	0.0:0.2413:0.0:0.7587	.	2222	Q9NZR2	LRP1B_HUMAN	R	2222;2160	ENSP00000374135:K2222R	ENSP00000374135:K2222R	K	-	2	0	LRP1B	141174423	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.166000	0.58203	0.201000	0.20466	-0.361000	0.07541	AAG		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	143	0	0	0	0	35	143				
ASNSD1	54529	broad.mit.edu	37	2	190532561	190532561	+	Silent	SNP	G	G	A	rs377666444	byFrequency	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:190532561G>A	ENST00000260952.4	+	5	1949	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	ASNSD1_ENST00000607062.1_Silent_p.S31S	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	512	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GCTTTCAGTCGCATGGGCTGG	0.413													A|||	9	0.00179712	0.0	0.0	5008	,	,		18544	0.0		0.0	False		,,,				2504	0.0092					uc002uqt.2		NA																	0				ovary(2)|skin(1)	3						c.(1534-1536)TCG>TCA		asparagine synthetase domain containing 1							119.0	121.0	121.0					2																	190532561		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532561G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1536G>A	2.37:g.190532561G>A							p.S512S	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		5	1970	+			512			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1536G>A	CCDS2300.1																																																																																				0.413	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		4	142	0	0	0	0	4	142				
JAG1	182	broad.mit.edu	37	20	10653370	10653370	+	Silent	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:10653370C>G	ENST00000254958.5	-	2	881	c.366G>C	c.(364-366)ctG>ctC	p.L122L	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	122					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AACTGAAAGGCAGCACGATGC	0.677									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(364-366)CTG>CTC		jagged 1 precursor							42.0	38.0	39.0					20																	10653370		2202	4300	6502	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653370C>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.366G>C	20.37:g.10653370C>G							p.L122L	NM_000214	NP_000205	P78504	JAG1_HUMAN			2	882	-			122			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.366G>C	CCDS13112.1																																																																																				0.677	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		9	30	0	0	0	0	9	30				
XRN2	22803	broad.mit.edu	37	20	21314185	21314186	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:21314185_21314186GA>AT	ENST00000377191.3	+	10	957_958	c.862_863GA>AT	c.(862-864)GAt>ATt	p.D288I	XRN2_ENST00000430571.2_Missense_Mutation_p.D212I|XRN2_ENST00000539513.1_Missense_Mutation_p.D234I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	288					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CTTGCAGCATGATGAACTTGCC	0.391																																						uc002wsf.1		NA																	0				skin(1)	1						c.(862-864)GAT>ATT		5'-3' exoribonuclease 2																																				SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21314185_21314186GA>AT	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	Exception_encountered	20.37:g.21314185_21314186delinsAT	ENSP00000366396:p.Asp288Ile					XRN2_uc002wsg.1_Missense_Mutation_p.D212I|XRN2_uc010zsk.1_Missense_Mutation_p.D234I	p.D288I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			10	957_958	+			288					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	DNP	ENST00000377191.3	37	c.862_863GA>AT	CCDS13144.1																																																																																				0.391	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		17	129	0	0	0	0	17	129				
SUN5	140732	broad.mit.edu	37	20	31587923	31587923	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:31587923C>G	ENST00000356173.3	-	5	389	c.297G>C	c.(295-297)caG>caC	p.Q99H	SUN5_ENST00000375519.2_Missense_Mutation_p.R77T|SUN5_ENST00000375523.3_Missense_Mutation_p.Q74H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	99					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCATGAGCTTCTGGCACAGCA	0.602																																						uc002wyi.2		NA																	0				skin(1)	1						c.(295-297)CAG>CAC		sperm associated antigen 4-like							109.0	78.0	89.0					20																	31587923		2203	4299	6502	SO:0001583	missense	140732				spermatogenesis			g.chr20:31587923C>G	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.297G>C	20.37:g.31587923C>G	ENSP00000348496:p.Gln99His						p.Q99H	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			5	390	-			99					A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.297G>C	CCDS13209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.376|8.376	0.836378|0.836378	0.16891|0.16891	.|.	.|.	ENSG00000167098|ENSG00000167098	ENST00000356173;ENST00000375523;ENST00000420875|ENST00000375519	T;T;T|T	0.35236|0.31247	2.68;2.65;1.32|1.5	4.11|4.11	0.764|0.764	0.18465|0.18465	.|.	0.554792|.	0.15042|.	N|.	0.283787|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|7	0.41790|0.33940	T|T	0.15|0.23	-2.1045|-2.1045	2.2584|2.2584	0.04060|0.04060	0.1901:0.4859:0.212:0.1121|0.1901:0.4859:0.212:0.1121	.|.	99|.	Q8TC36|.	SUN5_HUMAN|.	H|T	99;74;88|77	ENSP00000348496:Q99H;ENSP00000364673:Q74H;ENSP00000400089:Q88H|ENSP00000364669:R77T	ENSP00000348496:Q99H|ENSP00000364669:R77T	Q|R	-|-	3|2	2|0	SUN5|SUN5	31051584|31051584	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.745000|0.745000	0.42441|0.42441	0.356000|0.356000	0.20181|0.20181	0.468000|0.468000	0.27243|0.27243	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.602	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		8	47	0	0	0	0	8	47				
PTPRT	11122	broad.mit.edu	37	20	41101056	41101056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:41101056G>A	ENST00000373187.1	-	8	1299	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q434*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	434	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTCGTACTGCTGCTGGTTG	0.627																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1300-1302)CAG>TAG		protein tyrosine phosphatase, receptor type, T							69.0	76.0	74.0					20																	41101056		2144	4259	6403	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101056G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1300C>T	20.37:g.41101056G>A	ENSP00000362283:p.Gln434*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.Q434*	p.Q434*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1484	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	434			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.1300C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	40	8.162621	0.98683	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.29	4.28	0.50868	.	0.211684	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.227	0.59921	0.0:0.0:0.7606:0.2393	.	.	.	.	X	434	.	ENSP00000348408:Q434X	Q	-	1	0	PTPRT	40534470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.438000	0.52871	2.484000	0.83849	0.462000	0.41574	CAG		0.627	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			50	59	0	0	0	0	50	59				
MYT1	4661	broad.mit.edu	37	20	62871243	62871243	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:62871243G>T	ENST00000328439.1	+	22	3588	c.3224G>T	c.(3223-3225)cGc>cTc	p.R1075L	MYT1_ENST00000536311.1_Missense_Mutation_p.R1102L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAATATCCGCCTTCCGCAC	0.622																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(3223-3225)CGC>CTC		myelin transcription factor 1							97.0	102.0	100.0					20																	62871243		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871243G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3224G>T	20.37:g.62871243G>T	ENSP00000327465:p.Arg1075Leu					MYT1_uc002yij.2_Missense_Mutation_p.R734L|MYT1_uc002yik.2_Missense_Mutation_p.R41L	p.R1075L	NM_004535	NP_004526	Q01538	MYT1_HUMAN			22	3588	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1075	R -> H (in Ref. 5; AAA59897).				B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3224G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768354	0.69878	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.52057	0.7;0.68	5.82	4.87	0.63330	.	0.059567	0.64402	D	0.000002	T	0.64382	0.2593	M	0.67953	2.075	0.80722	D	1	D;D	0.67145	0.996;0.989	D;P	0.62955	0.909;0.809	T	0.68689	-0.5342	10	0.72032	D	0.01	-31.6365	14.6458	0.68759	0.0696:0.0:0.9304:0.0	.	1102;1075	F5H7M8;Q01538	.;MYT1_HUMAN	L	1075;1102	ENSP00000327465:R1075L;ENSP00000442412:R1102L	ENSP00000327465:R1075L	R	+	2	0	MYT1	62341687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	1.465000	0.48006	0.591000	0.81541	CGC		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		37	114	1	0	7.04e-22	8.7e-22	37	114				
DOPEY2	9980	broad.mit.edu	37	21	37623566	37623566	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:37623566G>A	ENST00000399151.3	+	22	5190	c.5105G>A	c.(5104-5106)cGt>cAt	p.R1702H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1702					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCCCAGCGTCACAGTAAG	0.423																																						uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5104-5106)CGT>CAT		pad-1-like							81.0	91.0	87.0					21																	37623566		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37623566G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5105G>A	21.37:g.37623566G>A	ENSP00000382104:p.Arg1702His					DOPEY2_uc011aeb.1_Missense_Mutation_p.R1651H|DOPEY2_uc002yvh.2_Missense_Mutation_p.R553H	p.R1702H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			22	5184	+			1702					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.5105G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404500	0.25378	.	.	ENSG00000142197	ENST00000399151	T	0.12039	2.72	5.95	3.85	0.44370	.	0.146355	0.64402	D	0.000018	T	0.16642	0.0400	M	0.65975	2.015	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.09377	0.004;0.002	T	0.11567	-1.0582	10	0.48119	T	0.1	.	12.1331	0.53955	0.2268:0.0:0.7732:0.0	.	1702;1702	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1702	ENSP00000382104:R1702H	ENSP00000382104:R1702H	R	+	2	0	DOPEY2	36545436	0.016000	0.18221	0.070000	0.20053	0.688000	0.40055	0.526000	0.22971	1.536000	0.49237	0.655000	0.94253	CGT		0.423	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		13	77	0	0	0	0	13	77				
PDE9A	5152	broad.mit.edu	37	21	44153465	44153465	+	Splice_Site	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:44153465G>A	ENST00000291539.6	+	7	557		c.e7-1		PDE9A_ENST00000539837.1_Splice_Site|PDE9A_ENST00000349112.3_Splice_Site|PDE9A_ENST00000398227.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000380328.2_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398229.3_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000335440.6_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TTCATTCCTAGAGCATTCAAA	0.418																																						uc002zbm.2		NA																	0				ovary(1)|skin(1)	2						c.e7-1		phosphodiesterase 9A isoform a							105.0	97.0	100.0					21																	44153465		2203	4300	6503	SO:0001630	splice_region_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44153465G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.498-1G>A	21.37:g.44153465G>A						PDE9A_uc002zbn.2_Splice_Site_p.R39_splice|PDE9A_uc002zbo.2_Splice_Site_p.R113_splice|PDE9A_uc002zbp.2_Splice_Site|PDE9A_uc002zbq.2_Splice_Site_p.R64_splice|PDE9A_uc002zbs.2_Splice_Site|PDE9A_uc002zbr.2_Splice_Site|PDE9A_uc002zbt.2_Splice_Site_p.R38_splice|PDE9A_uc002zbu.2_Splice_Site_p.R32_splice|PDE9A_uc002zbv.2_Splice_Site_p.R6_splice|PDE9A_uc002zbw.2_Splice_Site|PDE9A_uc002zbx.2_Splice_Site_p.R106_splice|PDE9A_uc002zby.2_Splice_Site|PDE9A_uc002zbz.2_Splice_Site_p.R58_splice|PDE9A_uc002zca.2_Splice_Site_p.R125_splice|PDE9A_uc002zcb.2_Splice_Site_p.R140_splice|PDE9A_uc002zcc.2_Splice_Site_p.R65_splice|PDE9A_uc002zcd.2_Splice_Site_p.R80_splice|PDE9A_uc002zce.2_Splice_Site_p.R99_splice|PDE9A_uc002zcf.2_Splice_Site|PDE9A_uc002zcg.2_Splice_Site|PDE9A_uc002zch.2_Splice_Site	p.R166_splice	NM_002606	NP_002597	O76083	PDE9A_HUMAN			7	561	+								B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	ENST00000291539.6	37	c.498_splice	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894945	0.52121	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43026534	1.000000	0.71417	0.715000	0.30552	0.646000	0.38490	5.847000	0.69451	2.627000	0.88993	0.591000	0.81541	.		0.418	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		Intron	13	36	0	0	0	0	13	36				
NF2	4771	broad.mit.edu	37	22	30057252	30057252	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr22:30057252A>G	ENST00000338641.4	+	8	1175	c.734A>G	c.(733-735)gAc>gGc	p.D245G	NF2_ENST00000361452.4_Missense_Mutation_p.D204G|NF2_ENST00000353887.4_Missense_Mutation_p.D162G|NF2_ENST00000403999.3_Missense_Mutation_p.D245G|NF2_ENST00000361676.4_Missense_Mutation_p.D203G|NF2_ENST00000403435.1_Missense_Mutation_p.D245G|NF2_ENST00000334961.7_Missense_Mutation_p.D162G|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Missense_Mutation_p.D86G|NF2_ENST00000361166.4_Missense_Mutation_p.D245G|NF2_ENST00000397789.3_Missense_Mutation_p.D245G	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	245	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CACATTTATGACCCTGAGAAC	0.498			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3		NA	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		6	Unknown(3)|Deletion - In frame(2)|Complex - frameshift(1)	p.D245fs*31(1)|p.N226_E270del(1)|p.L140_P252del(1)|p.?(1)|p.L127_D382del(1)	soft_tissue(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(733-735)GAC>GGC		neurofibromin 2 isoform 1							117.0	112.0	114.0					22																	30057252		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30057252A>G	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.734A>G	22.37:g.30057252A>G	ENSP00000344666:p.Asp245Gly					NF2_uc003afy.3_Missense_Mutation_p.D245G|NF2_uc003afz.3_Missense_Mutation_p.D162G|NF2_uc003agf.3_Missense_Mutation_p.D245G|NF2_uc003agb.3_Missense_Mutation_p.D168G|NF2_uc003agc.3_Missense_Mutation_p.D207G|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.D245G|NF2_uc003aga.3_Missense_Mutation_p.D203G|NF2_uc003agh.3_Missense_Mutation_p.D204G|NF2_uc003agi.3_Missense_Mutation_p.D162G|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.D207G	p.D245G	NM_000268	NP_000259	P35240	MERL_HUMAN			8	1177	+			245			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.734A>G	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012718	0.75161	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.81	4.78	0.61160	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.091690	0.85682	D	0.000000	T	0.73241	0.3562	N	0.25890	0.77	0.80722	D	1	B;B;B;B;B;B	0.31383	0.321;0.002;0.003;0.007;0.003;0.001	B;B;B;B;B;B	0.35550	0.205;0.012;0.007;0.013;0.01;0.003	T	0.69453	-0.5141	9	.	.	.	.	11.2808	0.49192	0.9293:0.0:0.0706:0.0	.	204;245;245;203;162;245	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	G	86;245;245;204;245;245;162;162;245;203;245	ENSP00000335160:D86G;ENSP00000344666:D245G;ENSP00000384029:D245G;ENSP00000354897:D204G;ENSP00000384797:D245G;ENSP00000335652:D162G;ENSP00000340626:D162G;ENSP00000380891:D245G;ENSP00000355183:D203G;ENSP00000354529:D245G	.	D	+	2	0	NF2	28387252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.312000	0.65792	2.218000	0.71995	0.528000	0.53228	GAC		0.498	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		3	157	0	0	0	0	3	157				
PTPN23	25930	broad.mit.edu	37	3	47450918	47450918	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:47450918G>A	ENST00000265562.4	+	18	1886	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	PTPN23_ENST00000431726.1_Silent_p.E477E	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	603					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTGTTCGAGGAGCAGCTGA	0.622																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1807-1809)GAG>GAA		protein tyrosine phosphatase, non-receptor type							42.0	48.0	46.0					3																	47450918		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450918G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1809G>A	3.37:g.47450918G>A						PTPN23_uc011baw.1_Silent_p.E568E|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.E473E	p.E603E	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	1905	+			603			Potential.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1809G>A	CCDS2754.1																																																																																				0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		3	39	0	0	0	0	3	39				
OR5H1	26341	broad.mit.edu	37	3	97852161	97852161	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:97852161A>G	ENST00000354565.2	+	1	620	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	207						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTTCAATTCAGGTATTCAGC	0.318																																						uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(619-621)CAG>CGG		olfactory receptor, family 5, subfamily H,							48.0	52.0	51.0					3																	97852161		2202	4299	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852161A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.620A>G	3.37:g.97852161A>G	ENSP00000346575:p.Gln207Arg						p.Q207R	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	620	+			207			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.620A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	6.793	0.515277	0.12944	.	.	ENSG00000231192	ENST00000354565	T	0.36878	1.23	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000444	T	0.49695	0.1572	M	0.66506	2.035	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34875	-0.9811	10	0.18710	T	0.47	.	6.818	0.23841	0.7605:0.2395:0.0:0.0	.	207	A6NKK0	OR5H1_HUMAN	R	207	ENSP00000346575:Q207R	ENSP00000346575:Q207R	Q	+	2	0	OR5H1	99334851	0.000000	0.05858	0.387000	0.26183	0.051000	0.14879	-0.029000	0.12329	1.481000	0.48307	0.164000	0.16699	CAG		0.318	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		3	83	0	0	0	0	3	83				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(1)	1						c.(508-510)GAG>GAA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A							p.E170E	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1071	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	78	0	0	0	0	3	78				
NCK1	4690	broad.mit.edu	37	3	136665013	136665013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:136665013C>T	ENST00000481752.1	+	3	979	c.815C>T	c.(814-816)tCa>tTa	p.S272L	NCK1_ENST00000288986.2_Missense_Mutation_p.S272L|NCK1_ENST00000469404.1_Missense_Mutation_p.S208L			P16333	NCK1_HUMAN	NCK adaptor protein 1	272					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATTAGGCCTTCACTCACTGGA	0.413																																						uc003erh.2		NA																	0				pancreas(1)	1						c.(814-816)TCA>TTA		NCK adaptor protein 1							181.0	167.0	172.0					3																	136665013		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136665013C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.815C>T	3.37:g.136665013C>T	ENSP00000417273:p.Ser272Leu					NCK1_uc011bme.1_Missense_Mutation_p.S208L	p.S272L	NM_006153	NP_006144	P16333	NCK1_HUMAN			3	922	+			272					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.815C>T	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902023|3.902023	0.72754|0.72754	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000488930;ENST00000496489|ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T|T;T;T;T	0.32988|0.61742	1.43|0.08;0.08;0.08;2.31	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.066388	.|0.64402	.|D	.|0.000007	T|T	0.58337|0.58337	0.2115|0.2115	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|B;B	.|0.14012	.|0.005;0.009	.|B;B	.|0.10450	.|0.004;0.005	T|T	0.51498|0.51498	-0.8698|-0.8698	7|10	0.87932|0.40728	D|T	0|0.16	-0.7221|-0.7221	18.1336|18.1336	0.89610|0.89610	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;272	.|B7Z751;P16333	.|.;NCK1_HUMAN	Y|L	147;127|272;272;208;75	ENSP00000417729:H147Y|ENSP00000288986:S272L;ENSP00000417273:S272L;ENSP00000419631:S208L;ENSP00000418060:S75L	ENSP00000417729:H147Y|ENSP00000288986:S272L	H|S	+|+	1|2	0|0	NCK1|NCK1	138147703|138147703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.403000|7.403000	0.79983|0.79983	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CAC|TCA		0.413	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		28	161	0	0	0	0	28	161				
PACRGL	133015	broad.mit.edu	37	4	20706289	20706289	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:20706289A>G	ENST00000503585.1	+	3	450	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	PACRGL_ENST00000513459.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000538990.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000444671.2_Missense_Mutation_p.Y20C|PACRGL_ENST00000507634.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000360916.5_Missense_Mutation_p.Y20C|PACRGL_ENST00000295290.8_Missense_Mutation_p.Y20C|PACRGL_ENST00000502374.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000502938.1_Missense_Mutation_p.Y20C	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	20										endometrium(2)|lung(7)|prostate(1)	10						CCAGGTAACTATGATCAAAGG	0.403																																						uc010iek.2		NA																	0					0						c.(58-60)TAT>TGT		PARK2 co-regulated-like isoform 1							128.0	117.0	121.0					4																	20706289		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20706289A>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.59A>G	4.37:g.20706289A>G	ENSP00000423881:p.Tyr20Cys					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.Y68C|PACRGL_uc003gpz.2_Missense_Mutation_p.Y20C|PACRGL_uc011bxm.1_Missense_Mutation_p.Y20C|PACRGL_uc003gqa.2_Missense_Mutation_p.Y20C|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.Y20C|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.Y20C|PACRGL_uc003gpy.2_Missense_Mutation_p.Y20C	p.Y20C	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			3	450	+			20					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.59A>G	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	A	5.263	0.233893	0.09969	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.65	-4.79	0.03200	.	1.348970	0.04234	N	0.335765	T	0.15089	0.0364	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.0;0.0;0.001	T	0.15350	-1.0440	9	0.38643	T	0.18	4.3836	4.1193	0.10098	0.5557:0.2149:0.1284:0.101	.	20;20;68;20;20;20	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	C	68;20;20;20;20;20;20;20;20;20;20;20;20;20;20;20;20;20;20;20	.	ENSP00000295290:Y20C	Y	+	2	0	PACRGL	20315387	0.002000	0.14202	0.006000	0.13384	0.101000	0.19017	-0.162000	0.10012	-0.827000	0.04278	-0.408000	0.06270	TAT		0.403	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		12	40	0	0	0	0	12	40				
GNRHR	2798	broad.mit.edu	37	4	68606303	68606303	+	Silent	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:68606303A>T	ENST00000226413.4	-	3	906	c.882T>A	c.(880-882)ccT>ccA	p.P294P	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_3'UTR	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	294					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	TTAACATTTCAGGATCAAACC	0.393																																						uc003hdn.2		NA																	0				ovary(1)	1						c.(880-882)CCT>CCA		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						171.0	178.0	175.0					4																	68606303		2203	4300	6503	SO:0001819	synonymous_variant	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68606303A>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.882T>A	4.37:g.68606303A>T						LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_3'UTR|uc003hdo.1_5'Flank	p.P294P	NM_000406	NP_000397	P30968	GNRHR_HUMAN			3	2633	-			294			Helical; Name=6; (Potential).		O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	c.882T>A	CCDS3517.1																																																																																				0.393	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			4	259	0	0	0	0	4	259				
NDST4	64579	broad.mit.edu	37	4	115997541	115997541	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:115997541C>T	ENST00000264363.2	-	2	1330	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	218	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.E218K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTCCAGTCTTCCCCAGGAAGA	0.408																																						uc003ibu.2		NA																	1	Substitution - Missense(1)		skin(1)	skin(3)|ovary(1)	4						c.(652-654)GAA>AAA		heparan sulfate N-deacetylase/N-sulfotransferase							74.0	76.0	76.0					4																	115997541		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997541C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.652G>A	4.37:g.115997541C>T	ENSP00000264363:p.Glu218Lys					NDST4_uc010imw.2_Intron	p.E218K	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1331	-		Ovarian(17;0.156)	218			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.652G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633463	0.47049	.	.	ENSG00000138653	ENST00000264363	T	0.36878	1.23	5.25	4.4	0.53042	.	0.050651	0.85682	D	0.000000	T	0.33440	0.0863	L	0.43152	1.355	0.54753	D	0.999984	B	0.06786	0.001	B	0.16722	0.016	T	0.06499	-1.0823	10	0.36615	T	0.2	.	15.7923	0.78376	0.0:0.8634:0.1366:0.0	.	218	Q9H3R1	NDST4_HUMAN	K	218	ENSP00000264363:E218K	ENSP00000264363:E218K	E	-	1	0	NDST4	116216990	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	4.046000	0.57376	1.171000	0.42768	0.591000	0.81541	GAA		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		19	62	0	0	0	0	19	62				
TBC1D9	23158	broad.mit.edu	37	4	141591978	141591978	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:141591978T>C	ENST00000442267.2	-	7	1236	c.1162A>G	c.(1162-1164)Aga>Gga	p.R388G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	388							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGAAAGTCTCTATCTTTCAAG	0.443																																						uc010ioj.2		NA																	0				ovary(1)	1						c.(1162-1164)AGA>GGA		TBC1 domain family, member 9 (with GRAM domain)							160.0	160.0	160.0					4																	141591978		1912	4122	6034	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141591978T>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1162A>G	4.37:g.141591978T>C	ENSP00000411197:p.Arg388Gly						p.R388G	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			7	1434	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	388					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1162A>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604280	0.66445	.	.	ENSG00000109436	ENST00000442267	T	0.11277	2.79	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.86028	2.79	0.80722	D	1	D	0.57899	0.981	D	0.71414	0.973	T	0.13575	-1.0504	10	0.51188	T	0.08	-8.086	12.521	0.56058	0.0:0.0:0.2681:0.7319	.	388	Q6ZT07	TBCD9_HUMAN	G	388	ENSP00000411197:R388G	ENSP00000411197:R388G	R	-	1	2	TBC1D9	141811428	0.739000	0.28196	0.998000	0.56505	0.990000	0.78478	0.823000	0.27366	2.182000	0.69389	0.528000	0.53228	AGA		0.443	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		49	117	0	0	0	0	49	117				
TRAPPC11	60684	broad.mit.edu	37	4	184596347	184596347	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:184596347G>A	ENST00000334690.6	+	7	893	c.691G>A	c.(691-693)Gct>Act	p.A231T	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A231T|RNU6-335P_ENST00000364563.1_RNA|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	231					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTTCAAAATAGCTTTCTTCAG	0.239																																						uc003ivx.2		NA																	0					0						c.(691-693)GCT>ACT		hypothetical protein LOC60684 isoform a							42.0	45.0	44.0					4																	184596347		2199	4287	6486	SO:0001583	missense	60684							g.chr4:184596347G>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.691G>A	4.37:g.184596347G>A	ENSP00000335371:p.Ala231Thr					C4orf41_uc003ivw.2_Missense_Mutation_p.A231T|C4orf41_uc010isc.2_Intron	p.A231T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	7	867	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	231					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.691G>A	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081004	0.94050	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.32	5.32	0.75619	.	0.048080	0.85682	D	0.000000	D	0.82802	0.5116	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.63877	0.707;0.919	D	0.85101	0.0957	9	0.72032	D	0.01	.	19.3719	0.94492	0.0:0.0:1.0:0.0	.	231;231	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	T	231	.	ENSP00000335371:A231T	A	+	1	0	C4orf41	184833341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	2.639000	0.89480	0.655000	0.94253	GCT		0.239	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		5	40	0	0	0	0	5	40				
CDH9	1007	broad.mit.edu	37	5	26915954	26915954	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:26915954T>C	ENST00000231021.4	-	3	479	c.307A>G	c.(307-309)Ata>Gta	p.I103V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCATCTATAACAAATAGA	0.378																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(307-309)ATA>GTA		cadherin 9, type 2 preproprotein							119.0	122.0	121.0					5																	26915954		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915954T>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.307A>G	5.37:g.26915954T>C	ENSP00000231021:p.Ile103Val					CDH9_uc010iug.2_Missense_Mutation_p.I103V	p.I103V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	476	-			103			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.307A>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055080	0.75960	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.58506	0.33;0.33	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.80508	2.5	0.48341	D	0.999633	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.952	T	0.78160	-0.2312	9	.	.	.	.	13.1622	0.59550	0.0:0.0:0.0:1.0	.	103;103	E7EPN0;Q9ULB4	.;CADH9_HUMAN	V	103	ENSP00000231021:I103V;ENSP00000426239:I103V	.	I	-	1	0	CDH9	26951711	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.568000	0.82369	1.845000	0.53610	0.477000	0.44152	ATA		0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		95	152	0	0	0	0	95	152				
CDH6	1004	broad.mit.edu	37	5	31302316	31302316	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:31302316G>C	ENST00000265071.2	+	6	1175	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	CDH6_ENST00000514738.1_Missense_Mutation_p.E249Q	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	304	Cadherin 3. {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						TGCTGAAATTGAGTACAGCAT	0.473																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(910-912)GAG>CAG		cadherin 6, type 2 preproprotein							132.0	123.0	126.0					5																	31302316		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.chr5:31302316G>C	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.910G>C	5.37:g.31302316G>C	ENSP00000265071:p.Glu304Gln					CDH6_uc003jhd.1_Missense_Mutation_p.E304Q	p.E304Q	NM_004932	NP_004923	P55285	CADH6_HUMAN			6	1236	+			304			Cadherin 3.|Extracellular (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.910G>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033581	0.54896	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51071	0.72;0.72	5.9	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.376181	0.32055	N	0.006650	T	0.40909	0.1136	L	0.35414	1.06	0.39848	D	0.973208	B;B	0.14012	0.001;0.009	B;B	0.17098	0.017;0.014	T	0.21827	-1.0234	10	0.40728	T	0.16	.	17.1349	0.86736	0.0:0.1265:0.8735:0.0	.	304;304	P55285;P55285-2	CADH6_HUMAN;.	Q	249;304	ENSP00000424843:E249Q;ENSP00000265071:E304Q	ENSP00000265071:E304Q	E	+	1	0	CDH6	31338073	1.000000	0.71417	0.506000	0.27664	0.998000	0.95712	5.650000	0.67944	1.484000	0.48361	0.585000	0.79938	GAG		0.473	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		11	105	0	0	0	0	11	105				
GHR	2690	broad.mit.edu	37	5	42718796	42718796	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:42718796A>G	ENST00000230882.4	+	10	1377	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	GHR_ENST00000357703.3_Missense_Mutation_p.E374G|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E209G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	396					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACATTCTGGAGACTGATTTC	0.478																																						uc003jmt.2		NA																	0				lung(4)|kidney(1)|skin(1)	6						c.(1186-1188)GAG>GGG		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137.0	108.0	118.0					5																	42718796		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718796A>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1187A>G	5.37:g.42718796A>G	ENSP00000230882:p.Glu396Gly					GHR_uc011cpq.1_Missense_Mutation_p.E209G	p.E396G	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1230	+		Myeloproliferative disorder(839;0.00878)	396			Cytoplasmic (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1187A>G	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.647131	0.67358	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.42131	0.98;0.98;0.98	5.86	5.86	0.93980	.	0.278293	0.44902	D	0.000419	T	0.66327	0.2778	M	0.78916	2.43	0.53005	D	0.999969	D	0.63880	0.993	D	0.73380	0.98	T	0.70215	-0.4933	10	0.72032	D	0.01	-8.7053	16.2535	0.82498	1.0:0.0:0.0:0.0	.	396	P10912	GHR_HUMAN	G	396;374;209	ENSP00000230882:E396G;ENSP00000350335:E374G;ENSP00000442206:E209G	ENSP00000230882:E396G	E	+	2	0	GHR	42754553	.	.	0.965000	0.40720	0.835000	0.47333	.	.	2.246000	0.74042	0.482000	0.46254	GAG		0.478	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		23	96	0	0	0	0	23	96				
SKIV2L2	23517	broad.mit.edu	37	5	54662572	54662572	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:54662572A>G	ENST00000230640.5	+	16	1933	c.1679A>G	c.(1678-1680)aAt>aGt	p.N560S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.N459S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	560	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATCCTCTAAATAGTGCTTTC	0.338																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	0				ovary(1)|skin(1)	2						c.(1678-1680)AAT>AGT		superkiller viralicidic activity 2-like 2							84.0	90.0	88.0					5																	54662572		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54662572A>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1679A>G	5.37:g.54662572A>G	ENSP00000230640:p.Asn560Ser					SKIV2L2_uc011cqi.1_Missense_Mutation_p.N459S	p.N560S	NM_015360	NP_056175	P42285	SK2L2_HUMAN			16	1945	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	560			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1679A>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364399	0.61513	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.31247	1.5;1.53	5.16	5.16	0.70880	Helicase, C-terminal (1);	0.100018	0.64402	D	0.000002	T	0.37156	0.0993	M	0.62723	1.935	0.80722	D	1	P;B	0.36010	0.532;0.03	B;B	0.39119	0.291;0.036	T	0.33497	-0.9866	10	0.72032	D	0.01	-26.523	15.2583	0.73601	1.0:0.0:0.0:0.0	.	459;560	F5H7E2;P42285	.;SK2L2_HUMAN	S	560;459	ENSP00000230640:N560S;ENSP00000442583:N459S	ENSP00000230640:N560S	N	+	2	0	SKIV2L2	54698329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.212000	0.95126	2.081000	0.62600	0.482000	0.46254	AAT		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			31	63	0	0	0	0	31	63				
CMYA5	202333	broad.mit.edu	37	5	79032587	79032587	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:79032587C>G	ENST00000446378.2	+	2	8030	c.7999C>G	c.(7999-8001)Cca>Gca	p.P2667A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2667					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGATATGCCAGATCACAG	0.403																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(7999-8001)CCA>GCA		cardiomyopathy associated 5							49.0	50.0	49.0					5																	79032587		1852	4097	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032587C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7999C>G	5.37:g.79032587C>G	ENSP00000394770:p.Pro2667Ala						p.P2667A	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8071	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2667					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7999C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	1.365	-0.587720	0.03799	.	.	ENSG00000164309	ENST00000446378	T	0.35973	1.28	3.62	1.63	0.23807	.	.	.	.	.	T	0.17662	0.0424	N	0.11560	0.145	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.25916	-1.0118	9	0.13470	T	0.59	.	9.6682	0.39996	0.0:0.5669:0.4331:0.0	.	2667	Q8N3K9	CMYA5_HUMAN	A	2667	ENSP00000394770:P2667A	ENSP00000394770:P2667A	P	+	1	0	CMYA5	79068343	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-1.287000	0.02785	0.661000	0.30985	0.393000	0.25936	CCA		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		10	46	0	0	0	0	10	46				
PCDHA5	56143	broad.mit.edu	37	5	140202875	140202875	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140202875T>C	ENST00000529859.1	+	1	1515	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S505S|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S505S|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTCGAGTTACGTTTCGG	0.682																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1513-1515)AGT>AGC		protocadherin alpha 5 isoform 1 precursor							54.0	59.0	57.0					5																	140202875		2203	4299	6502	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202875T>C	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1515T>C	5.37:g.140202875T>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S505S|PCDHA5_uc003lhj.1_Silent_p.S505S	p.S505S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1515	+			505			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1515T>C	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		25	86	0	0	0	0	25	86				
PCDHB12	56124	broad.mit.edu	37	5	140588971	140588971	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140588971C>A	ENST00000239450.2	+	1	681	c.492C>A	c.(490-492)atC>atA	p.I164I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTAGGAATCAATGCTGTAA	0.388																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(490-492)ATC>ATA		protocadherin beta 12 precursor							79.0	81.0	80.0					5																	140588971		2202	4300	6502	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588971C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.492C>A	5.37:g.140588971C>A						PCDHB12_uc011dak.1_Intron	p.I164I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	681	+			164			Extracellular (Potential).|Cadherin 2.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.492C>A	CCDS4254.1																																																																																				0.388	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		11	64	1	0	0.000673444	0.000734435	11	64				
PCDHGA6	56109	broad.mit.edu	37	5	140755399	140755399	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140755399G>A	ENST00000517434.1	+	1	1749	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCGCAGAGCCCGGCTACC	0.657																																						uc003ljy.1		NA																	0				breast(1)	1						c.(1747-1749)GAG>GAA		protocadherin gamma subfamily A, 6 isoform 1							68.0	84.0	79.0					5																	140755399		2201	4295	6496	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755399G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1749G>A	5.37:g.140755399G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.E583E	p.E583E	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1749	+			583			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1749G>A	CCDS54926.1																																																																																				0.657	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		53	143	0	0	0	0	53	143				
DOCK2	1794	broad.mit.edu	37	5	169506012	169506012	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:169506012G>A	ENST00000256935.8	+	49	5108	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	DOCK2_ENST00000540750.1_Silent_p.P737P|DOCK2_ENST00000520908.1_Silent_p.P1168P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1676					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAAGACGCCGAGAGTGGAGC	0.547																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5026-5028)CCG>CCA		dedicator of cytokinesis 2							102.0	109.0	107.0					5																	169506012		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506012G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5028G>A	5.37:g.169506012G>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P1168P|DOCK2_uc003mah.2_Silent_p.P232P	p.P1676P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5108	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1676					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5028G>A	CCDS4371.1																																																																																				0.547	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		16	141	0	0	0	0	16	141				
PRRC2A	7916	broad.mit.edu	37	6	31605291	31605291	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:31605291A>G	ENST00000376033.2	+	31	6636	c.6402A>G	c.(6400-6402)gaA>gaG	p.E2134E	PRRC2A_ENST00000376007.4_Silent_p.E2134E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2134						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACCTCGAGAAGGGCCCTCCC	0.677																																						uc003nvb.3		NA																	0					0						c.(6400-6402)GAA>GAG		HLA-B associated transcript-2							66.0	80.0	75.0					6																	31605291		1508	2709	4217	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31605291A>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6402A>G	6.37:g.31605291A>G						BAT2_uc003nvc.3_Silent_p.E2134E	p.E2134E	NM_080686	NP_542417	P48634	PRC2A_HUMAN			31	6651	+			2134					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.6402A>G	CCDS4708.1																																																																																				0.677	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		28	100	0	0	0	0	28	100				
TREML2	79865	broad.mit.edu	37	6	41166046	41166046	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:41166046C>A	ENST00000483722.1	-	2	362	c.177G>T	c.(175-177)agG>agT	p.R59S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	59	Ig-like V-type.			R -> K (in Ref. 3; BAB14668). {ECO:0000305}.	T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTCTTCTTCCTGATTTTGC	0.552																																						uc010jxm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(175-177)AGG>AGT		triggering receptor expressed on myeloid							163.0	170.0	168.0					6																	41166046		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166046C>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.177G>T	6.37:g.41166046C>A	ENSP00000418767:p.Arg59Ser						p.R59S	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	356	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		59	R -> K (in Ref. 3; BAB14668).		Ig-like V-type.|Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.177G>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400556	0.42613	.	.	ENSG00000112195	ENST00000483722	T	0.64260	-0.09	4.75	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097562	0.44688	D	0.000428	T	0.43809	0.1264	L	0.47716	1.5	0.28105	N	0.931228	D	0.53619	0.961	P	0.53450	0.726	T	0.30090	-0.9990	10	0.08599	T	0.76	-11.0795	9.4217	0.38555	0.0:0.8951:0.0:0.1049	.	59	Q5T2D2	TRML2_HUMAN	S	59	ENSP00000418767:R59S	ENSP00000418767:R59S	R	-	3	2	TREML2	41274024	0.980000	0.34600	0.950000	0.38849	0.162000	0.22319	0.741000	0.26202	2.344000	0.79699	0.563000	0.77884	AGG		0.552	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		47	148	1	0	6.31e-24	7.83e-24	47	148				
OGFRL1	79627	broad.mit.edu	37	6	72003291	72003291	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:72003291A>G	ENST00000370435.4	+	3	511	c.377A>G	c.(376-378)aAt>aGt	p.N126S	RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	126						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTATAAGAATAAAATTCCA	0.299																																						uc003pfx.1		NA																	0					0						c.(376-378)AAT>AGT		opioid growth factor receptor-like 1							52.0	54.0	53.0					6																	72003291		2203	4296	6499	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72003291A>G		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.377A>G	6.37:g.72003291A>G	ENSP00000359464:p.Asn126Ser						p.N126S	NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN			3	540	+			126					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.377A>G	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522971	0.85600	.	.	ENSG00000119900	ENST00000370435	T	0.55588	0.51	5.81	5.81	0.92471	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	L	0.58810	1.83	0.54753	D	0.999985	P	0.47484	0.896	P	0.45660	0.489	T	0.54873	-0.8228	10	0.72032	D	0.01	-26.938	16.162	0.81727	1.0:0.0:0.0:0.0	.	126	Q5TC84	OGRL1_HUMAN	S	126	ENSP00000359464:N126S	ENSP00000359464:N126S	N	+	2	0	OGFRL1	72060012	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.528000	0.90598	2.224000	0.72417	0.533000	0.62120	AAT		0.299	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		8	40	0	0	0	0	8	40				
EEF1A1	1915	broad.mit.edu	37	6	74229664	74229664	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:74229664T>C	ENST00000316292.9	-	1	1077	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	EEF1A1_ENST00000331523.2_Missense_Mutation_p.Y29C|EEF1A1_ENST00000309268.6_Missense_Mutation_p.Y29C|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	29	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCGCATTTATAGATCAGATG	0.418																																						uc003phi.2		NA																	0					0						c.(85-87)TAT>TGT		eukaryotic translation elongation factor 1 alpha							80.0	82.0	81.0					6																	74229664		2202	4297	6499	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229664T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.86A>G	6.37:g.74229664T>C	ENSP00000339063:p.Tyr29Cys					EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phf.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phg.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phk.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phl.2_Missense_Mutation_p.Y29C|EEF1A1_uc003phm.1_RNA	p.Y29C	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	123	-			29					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.86A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107274	0.56291	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000003	T	0.65491	0.2696	M	0.93106	3.38	0.80722	D	1	B;D;D;D;D	0.89917	0.208;1.0;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.073;0.997;0.997;0.997;0.997	T	0.75786	-0.3195	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	29;29;29;29;29	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	C	29	ENSP00000339063:Y29C;ENSP00000339053:Y29C;ENSP00000330054:Y29C;ENSP00000348651:Y29C;ENSP00000392366:Y29C	ENSP00000339053:Y29C	Y	-	2	0	EEF1A1	74286385	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.715000	0.84713	1.874000	0.54306	0.454000	0.30748	TAT		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		15	81	0	0	0	0	15	81				
MED23	9439	broad.mit.edu	37	6	131926435	131926435	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:131926435T>C	ENST00000368068.3	-	14	1737	c.1558A>G	c.(1558-1560)Att>Gtt	p.I520V	MED23_ENST00000368060.3_Missense_Mutation_p.I520V|MED23_ENST00000368053.4_Missense_Mutation_p.I526V|MED23_ENST00000403834.3_Missense_Mutation_p.I526V|MED23_ENST00000540546.1_Missense_Mutation_p.I526V|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.I161V|MED23_ENST00000354577.4_Missense_Mutation_p.I526V|MED23_ENST00000368058.1_Missense_Mutation_p.I526V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	520					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)		AAGGGGGTAATAGATCCTGAA	0.393																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1558-1560)ATT>GTT		mediator complex subunit 23 isoform a							105.0	101.0	102.0					6																	131926435		2203	4300	6503	SO:0001583	missense	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.chr6:131926435T>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.1558A>G	6.37:g.131926435T>C	ENSP00000357047:p.Ile520Val					MED23_uc003qcq.2_Missense_Mutation_p.I526V|MED23_uc011eca.1_Missense_Mutation_p.I161V|MED23_uc003qct.1_Missense_Mutation_p.I526V|MED23_uc011ecb.1_Intron	p.I520V	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	14	1732	-	Breast(56;0.0753)		520					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1558A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	8.625	0.892398	0.17613	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.87	4.72	0.59763	.	0.095393	0.64402	N	0.000001	T	0.44117	0.1278	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.001;0.001	T	0.37619	-0.9698	10	0.23891	T	0.37	-1.2878	11.1095	0.48223	0.0:0.0731:0.0:0.9268	.	161;526;520;526	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	V	526;520;526;520;526;161;526;526	ENSP00000346588:I526V;ENSP00000357047:I520V;ENSP00000384536:I526V;ENSP00000357039:I520V;ENSP00000357037:I526V;ENSP00000439977:I161V;ENSP00000357032:I526V;ENSP00000437818:I526V	ENSP00000346588:I526V	I	-	1	0	MED23	131968128	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	3.809000	0.55606	1.060000	0.40578	0.482000	0.46254	ATT		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			10	47	0	0	0	0	10	47				
SBDS	51119	broad.mit.edu	37	7	66453484	66453484	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:66453484T>C	ENST00000246868.2	-	5	810	c.627A>G	c.(625-627)gtA>gtG	p.V209V		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	209					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CAATCAGACATACCTGAAACA	0.408			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NA	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(625-627)GTA>GTG		Shwachman-Bodian-Diamond syndrome protein							85.0	77.0	80.0					7																	66453484		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66453484T>C	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.627A>G	7.37:g.66453484T>C							p.V209V	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			5	811	-			209					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.627A>G	CCDS5537.1																																																																																				0.408	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		12	47	0	0	0	0	12	47				
COL1A2	1278	broad.mit.edu	37	7	94037520	94037520	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:94037520G>T	ENST00000297268.6	+	14	1136	c.665G>T	c.(664-666)aGa>aTa	p.R222I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	222					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTGAGAGAGGACGTGTT	0.408										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(664-666)AGA>ATA		alpha 2 type I collagen precursor	Collagenase(DB00048)						103.0	108.0	107.0					7																	94037520		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037520G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.665G>T	7.37:g.94037520G>T	ENSP00000297268:p.Arg222Ile	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.R222I	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		14	1136	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		222					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.665G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478194	0.84747	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94232	-3.38	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95666	0.8719	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	222	P08123	CO1A2_HUMAN	I	222;223	ENSP00000297268:R222I	ENSP00000297268:R222I	R	+	2	0	COL1A2	93875456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	AGA		0.408	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	76	1	0	8.13e-05	9.18e-05	6	76				
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|PCOLCE_ENST00000223061.5_5'Flank	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662																																						uc003uvm.1		NA																	0				ovary(3)|skin(1)	4						c.(1543-1545)ATG>GTG		F-box only protein 24 isoform 1							48.0	45.0	46.0					7																	100198322		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198322A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1543A>G	7.37:g.100198322A>G	ENSP00000241071:p.Met515Val					FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.M553V|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	p.M515V	NM_033506	NP_277041	O75426	FBX24_HUMAN			10	1836	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		515					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.1543A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	0.269	-0.993871	0.02145	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.12879	2.64;2.64;2.64	4.31	-2.6	0.06190	.	0.714629	0.12064	N	0.502842	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.11794	T	0.64	0.0993	5.8331	0.18590	0.6289:0.0:0.2231:0.148	.	503;553;515;515	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	V	515;503;553	ENSP00000241071:M515V;ENSP00000420239:M503V;ENSP00000416558:M553V	ENSP00000241071:M515V	M	+	1	0	FBXO24	100036258	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.624000	0.05540	-0.835000	0.04234	-0.476000	0.04901	ATG		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			3	56	0	0	0	0	3	56				
CTTNBP2	83992	broad.mit.edu	37	7	117450836	117450836	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:117450836C>T	ENST00000160373.3	-	3	488	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	133					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTCTGCTCTCAGCAGCAGCC	0.483																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(397-399)GAG>AAG		cortactin binding protein 2							220.0	213.0	215.0					7																	117450836		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117450836C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.397G>A	7.37:g.117450836C>T	ENSP00000160373:p.Glu133Lys						p.E133K	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	489	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		133			Potential.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.397G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503089	0.96371	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.77	5.77	0.91146	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83086	-0.0135	10	0.44086	T	0.13	0.0377	20.3627	0.98863	0.0:1.0:0.0:0.0	.	133	Q8WZ74	CTTB2_HUMAN	K	133;91;91;91	ENSP00000160373:E133K;ENSP00000396014:E91K;ENSP00000405831:E91K;ENSP00000393373:E91K	ENSP00000160373:E133K	E	-	1	0	CTTNBP2	117238072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GAG		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		39	266	0	0	0	0	39	266				
AKR1B10	57016	broad.mit.edu	37	7	134221441	134221441	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:134221441C>A	ENST00000359579.4	+	5	789	c.469C>A	c.(469-471)Ctt>Att	p.L157I	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	157					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGTGAAAGCCCTTGGGGTCTC	0.488																																						uc003vrr.2		NA																	0				skin(5)	5						c.(469-471)CTT>ATT		aldo-keto reductase family 1, member B10							75.0	78.0	77.0					7																	134221441		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134221441C>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.469C>A	7.37:g.134221441C>A	ENSP00000352584:p.Leu157Ile						p.L157I	NM_020299	NP_064695	O60218	AK1BA_HUMAN			5	789	+			157					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.469C>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	2.675	-0.276623	0.05679	.	.	ENSG00000198074	ENST00000359579	T	0.16196	2.36	4.75	1.21	0.21127	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.229549	0.43919	N	0.000516	T	0.02455	0.0075	N	0.00050	-2.405	0.35139	D	0.768697	B	0.02656	0.0	B	0.17433	0.018	T	0.47959	-0.9076	10	0.02654	T	1	.	12.0354	0.53423	0.6295:0.3705:0.0:0.0	.	157	O60218	AK1BA_HUMAN	I	157	ENSP00000352584:L157I	ENSP00000352584:L157I	L	+	1	0	AKR1B10	133871981	1.000000	0.71417	0.974000	0.42286	0.889000	0.51656	4.410000	0.59774	0.043000	0.15746	0.556000	0.70494	CTT		0.488	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		36	148	1	0	5.72e-15	7e-15	36	148				
CNTNAP2	26047	broad.mit.edu	37	7	146829576	146829576	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:146829576G>T	ENST00000361727.3	+	8	1839	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	441	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			CACAGACCAAGATGAGCCAAA	0.413										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1321-1323)AAG>AAT		cell recognition molecule Caspr2 precursor							119.0	101.0	107.0					7																	146829576		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.chr7:146829576G>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.1323G>T	7.37:g.146829576G>T	ENSP00000354778:p.Lys441Asn	HNSCC(39;0.1)					p.K441N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1839	+	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)	441			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1323G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165932	0.57476	.	.	ENSG00000174469	ENST00000361727	T	0.78003	-1.14	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.427965	0.21324	N	0.076413	T	0.73583	0.3605	L	0.35288	1.05	0.80722	D	1	B	0.26708	0.157	B	0.39299	0.296	T	0.68784	-0.5317	10	0.30854	T	0.27	.	14.313	0.66429	0.0856:0.0:0.9144:0.0	.	441	Q9UHC6	CNTP2_HUMAN	N	441	ENSP00000354778:K441N	ENSP00000354778:K441N	K	+	3	2	CNTNAP2	146460509	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.905000	0.56333	2.686000	0.91538	0.591000	0.81541	AAG		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			22	48	1	0	1.23e-08	1.43e-08	22	48				
RUNX1T1	862	broad.mit.edu	37	8	93017495	93017496	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:93017495_93017496GG>CA	ENST00000523629.1	-	6	1042_1043	c.588_589CC>TG	c.(586-591)ctCCtc>ctTGtc	p.L197V	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L208V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L160V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L160V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L197V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L160V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L170V|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.L160V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L170V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	197	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L159L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCGCAGTGGAGGAGCTCACGCT	0.554																																						uc003yfd.2		NA																	1	Substitution - coding silent(1)	p.L159L(1)	central_nervous_system(1)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(586-591)CTCCTC>CTTGTC		acute myelogenous leukemia 1 translocation 1																																				SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017495_93017496GG>CA	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.588_589delinsCA	8.37:g.93017495_93017496delinsCA	ENSP00000428543:p.Leu197Val					RUNX1T1_uc003yfc.1_Missense_Mutation_p.L170V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.L160V|RUNX1T1_uc010mao.2_Missense_Mutation_p.L170V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.L208V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.L160V|RUNX1T1_uc003yff.1_Missense_Mutation_p.L160V	p.L197V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	672_673	-			197			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	DNP	ENST00000523629.1	37	c.588_589CC>TG	CCDS6256.1																																																																																				0.554	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		6	71	0	0	0	0	6	71				
EMC2	9694	broad.mit.edu	37	8	109462150	109462150	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:109462150A>G	ENST00000220853.3	+	2	174	c.139A>G	c.(139-141)Aag>Gag	p.K47E		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	47						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ATATGCTTCTAAGCTGGGAGA	0.318																																						uc003ymw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(139-141)AAG>GAG		tetratricopeptide repeat domain 35							86.0	100.0	96.0					8																	109462150		2203	4297	6500	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109462150A>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.139A>G	8.37:g.109462150A>G	ENSP00000220853:p.Lys47Glu						p.K47E	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		2	174	+			47					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.139A>G	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679469	0.88542	.	.	ENSG00000104412	ENST00000524143;ENST00000220853	T	0.16457	2.34	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.61592	0.891	T	0.36601	-0.9741	10	0.32370	T	0.25	-20.684	16.5602	0.84551	1.0:0.0:0.0:0.0	.	47	Q15006	TTC35_HUMAN	E	48;47	ENSP00000430122:K48E	ENSP00000220853:K47E	K	+	1	0	TTC35	109531326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.981000	0.76166	2.367000	0.80283	0.528000	0.53228	AAG		0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		26	171	0	0	0	0	26	171				
MTBP	27085	broad.mit.edu	37	8	121468867	121468867	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:121468867C>T	ENST00000305949.1	+	7	749	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	235					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313																																						uc003ypc.1		NA																	0				skin(2)|ovary(1)	3						c.(703-705)TCA>TTA		Mdm2, transformed 3T3 cell double minute 2, p53							98.0	113.0	108.0					8																	121468867		2203	4291	6494	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121468867C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.704C>T	8.37:g.121468867C>T	ENSP00000303398:p.Ser235Leu					MTBP_uc011lie.1_RNA	p.S235L	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		7	749	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		235					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.704C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550541	0.45383	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.56	5.56	0.83823	.	0.758167	0.12485	N	0.464771	T	0.41766	0.1173	L	0.41824	1.3	0.27764	N	0.943723	B	0.21821	0.061	B	0.19391	0.025	T	0.24905	-1.0147	9	0.38643	T	0.18	-0.4752	13.2533	0.60064	0.0:0.9177:0.0:0.0823	.	235	Q96DY7	MTBP_HUMAN	L	235	.	ENSP00000303398:S235L	S	+	2	0	MTBP	121538048	0.518000	0.26234	0.999000	0.59377	0.986000	0.74619	1.348000	0.33987	2.624000	0.88883	0.453000	0.30009	TCA		0.313	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		24	282	0	0	0	0	24	282				
DMRT2	10655	broad.mit.edu	37	9	1057243	1057243	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:1057243T>C	ENST00000358146.2	+	3	1656	c.1656T>C	c.(1654-1656)ccT>ccC	p.P552P	DMRT2_ENST00000382251.3_Silent_p.P552P|DMRT2_ENST00000302441.6_Silent_p.P552P|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	552					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTAAGAGGCCTTCATCTGCCA	0.393																																						uc003zha.2		NA																	0					0						c.(1654-1656)CCT>CCC		doublesex and mab-3 related transcription factor							68.0	68.0	68.0					9																	1057243		2203	4300	6503	SO:0001819	synonymous_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057243T>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1656T>C	9.37:g.1057243T>C						DMRT2_uc003zgx.3_Silent_p.P319P|DMRT2_uc010mgz.2_Silent_p.P319P|DMRT2_uc003zgy.3_Silent_p.P396P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P552P	p.P552P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1856	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	552					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	c.1656T>C	CCDS6444.1																																																																																				0.393	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		20	54	0	0	0	0	20	54				
RC3H2	54542	broad.mit.edu	37	9	125618124	125618124	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125618124C>T	ENST00000373670.1	-	13	3088	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	RC3H2_ENST00000423239.2_Missense_Mutation_p.E830K|RC3H2_ENST00000357244.2_Missense_Mutation_p.E830K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	830					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGATGATCTTCTTCAAATTTT	0.343																																						uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(2488-2490)GAA>AAA		ring finger and CCCH-type zinc finger domains 2							95.0	90.0	92.0					9																	125618124		1840	4083	5923	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125618124C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2488G>A	9.37:g.125618124C>T	ENSP00000362774:p.Glu830Lys					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E830K|RC3H2_uc004bne.3_Missense_Mutation_p.E830K	p.E830K	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			14	2729	-			830					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2488G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945996	0.73672	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.47177	0.85;0.85;0.87	5.53	5.53	0.82687	.	0.098557	0.64402	D	0.000002	T	0.32912	0.0845	N	0.19112	0.55	0.80722	D	1	P;B	0.34522	0.455;0.447	B;B	0.27608	0.052;0.081	T	0.14364	-1.0475	10	0.39692	T	0.17	-10.6872	16.6089	0.84838	0.0:1.0:0.0:0.0	.	830;830	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	K	830;830;701;830	ENSP00000362774:E830K;ENSP00000349783:E830K;ENSP00000411767:E830K	ENSP00000349783:E830K	E	-	1	0	RC3H2	124657945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.399000	0.73248	2.595000	0.87683	0.655000	0.94253	GAA		0.343	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		9	59	0	0	0	0	9	59				
RC3H2	54542	broad.mit.edu	37	9	125621230	125621230	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125621230C>T	ENST00000373670.1	-	11	2601	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	RC3H2_ENST00000423239.2_Missense_Mutation_p.M667I|RC3H2_ENST00000357244.2_Missense_Mutation_p.M667I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	667	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAAGAATTCATTCGATCTC	0.522																																						uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(1999-2001)ATG>ATA		ring finger and CCCH-type zinc finger domains 2							124.0	131.0	129.0					9																	125621230		2031	4195	6226	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125621230C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2001G>A	9.37:g.125621230C>T	ENSP00000362774:p.Met667Ile					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.M667I|RC3H2_uc004bne.3_Missense_Mutation_p.M667I	p.M667I	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			12	2242	-			667			Pro-rich.		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2001G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112261	0.37242	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.41758	0.99;0.99;1.0	5.62	5.62	0.85841	.	0.237335	0.48767	D	0.000166	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.04900	-1.0919	10	0.38643	T	0.18	-16.8535	16.8003	0.85612	0.0:1.0:0.0:0.0	.	667;667	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	I	667;667;538;667	ENSP00000362774:M667I;ENSP00000349783:M667I;ENSP00000411767:M667I	ENSP00000349783:M667I	M	-	3	0	RC3H2	124661051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.716000	0.47219	2.634000	0.89283	0.655000	0.94253	ATG		0.522	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		5	213	0	0	0	0	5	213				
TTF1	7270	broad.mit.edu	37	9	135276927	135276927	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:135276927T>C	ENST00000334270.2	-	2	1321	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	428					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTCCATCATGGCGCCATCA	0.507																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1282-1284)ATG>GTG		transcription termination factor, RNA polymerase							165.0	151.0	156.0					9																	135276927		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135276927T>C	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1282A>G	9.37:g.135276927T>C	ENSP00000333920:p.Met428Val					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.M428V	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1334	-		Myeloproliferative disorder(178;0.204)	428					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1282A>G	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	T	2.910	-0.225648	0.06022	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.08807	3.05	5.47	-10.9	0.00192	.	3.468300	0.00812	N	0.001518	T	0.02304	0.0071	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38802	-0.9644	10	0.07644	T	0.81	.	1.4657	0.02405	0.1435:0.2152:0.1937:0.4476	.	428	Q15361	TTF1_HUMAN	V	428	ENSP00000333920:M428V	ENSP00000245588:M428V	M	-	1	0	TTF1	134266748	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.778000	0.04664	-2.147000	0.00799	-2.551000	0.00177	ATG		0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		66	78	0	0	0	0	66	78				
BMX	660	broad.mit.edu	37	X	15567988	15567988	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:15567988C>A	ENST00000357607.2	+	18	2009	c.1821C>A	c.(1819-1821)agC>agA	p.S607R	BMX_ENST00000348343.6_Missense_Mutation_p.S607R|BMX_ENST00000342014.6_Missense_Mutation_p.S607R			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	607	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGTGTTCAGCCTGGGGAAGC	0.552																																						uc004cww.2		NA																	0				lung(3)|ovary(2)	5						c.(1819-1821)AGC>AGA		BMX non-receptor tyrosine kinase							166.0	143.0	151.0					X																	15567988		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15567988C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1821C>A	X.37:g.15567988C>A	ENSP00000350224:p.Ser607Arg					BMX_uc004cwx.3_Missense_Mutation_p.S607R|BMX_uc004cwy.3_Missense_Mutation_p.S607R	p.S607R	NM_203281	NP_975010	P51813	BMX_HUMAN			18	2009	+	Hepatocellular(33;0.183)		607			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1821C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559354	0.65538	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.89810	-2.57;-2.57;-2.57	5.55	2.31	0.28768	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.217302	0.41712	D	0.000822	D	0.93478	0.7919	M	0.87547	2.89	0.34377	D	0.692662	D	0.89917	1.0	D	0.72338	0.977	D	0.93793	0.7094	10	0.87932	D	0	.	7.4043	0.26981	0.0:0.5458:0.0:0.4542	.	607	P51813	BMX_HUMAN	R	607	ENSP00000350224:S607R;ENSP00000308774:S607R;ENSP00000340082:S607R	ENSP00000340082:S607R	S	+	3	2	BMX	15477909	0.864000	0.29904	1.000000	0.80357	0.993000	0.82548	0.156000	0.16382	0.505000	0.28104	0.523000	0.50628	AGC		0.552	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		4	197	1	0	0.00116845	0.00126948	4	197				
FGD1	2245	broad.mit.edu	37	X	54496604	54496604	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:54496604C>A	ENST00000375135.3	-	4	1679	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	316	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTAGCCAGGGCAGGGGGCCCA	0.657																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(946-948)GCC>TCC		faciogenital dysplasia protein							28.0	22.0	24.0					X																	54496604		2203	4298	6501	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496604C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.946G>T	X.37:g.54496604C>A	ENSP00000364277:p.Ala316Ser					FGD1_uc011moi.1_Missense_Mutation_p.A74S	p.A316S	NM_004463	NP_004454	P98174	FGD1_HUMAN			4	1680	-			316			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.946G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438281	0.25900	.	.	ENSG00000102302	ENST00000375135	T	0.78126	-1.15	4.94	4.94	0.65067	.	0.000000	0.48767	D	0.000167	T	0.56688	0.2002	N	0.08118	0	0.29790	N	0.833311	B;B	0.22800	0.028;0.075	B;B	0.12156	0.004;0.007	T	0.43669	-0.9377	10	0.09338	T	0.73	-12.6613	14.7675	0.69651	0.0:1.0:0.0:0.0	.	74;316	B4DS99;P98174	.;FGD1_HUMAN	S	316	ENSP00000364277:A316S	ENSP00000364277:A316S	A	-	1	0	FGD1	54513329	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.741000	0.38238	2.396000	0.81511	0.436000	0.28706	GCC		0.657	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		11	19	1	0	4.69e-08	5.44e-08	11	19				
DIAPH2	1730	broad.mit.edu	37	X	96213115	96213115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:96213115G>T	ENST00000324765.8	+	16	2250	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.E631*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	635	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTATAAACCTGAAGTGTCCAT	0.398																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(1903-1905)GAA>TAA		diaphanous 2 isoform 156							48.0	51.0	50.0					X																	96213115		2203	4300	6503	SO:0001587	stop_gained	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96213115G>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1903G>T	X.37:g.96213115G>T	ENSP00000321348:p.Glu635*					DIAPH2_uc004eft.3_Nonsense_Mutation_p.E635*	p.E635*	NM_006729	NP_006720	O60879	DIAP2_HUMAN			16	2299	+			635			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	ENST00000324765.8	37	c.1903G>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	41	8.976171	0.99023	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.33	5.33	0.75918	.	0.152719	0.40908	D	0.000996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.7287	0.88371	0.0:0.0:1.0:0.0	.	.	.	.	X	635;631;635;635;635;642	.	ENSP00000321348:E635X	E	+	1	0	DIAPH2	96099771	1.000000	0.71417	0.985000	0.45067	0.304000	0.27724	9.233000	0.95337	2.217000	0.71921	0.594000	0.82650	GAA		0.398	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		20	112	1	0	1.96e-10	2.32e-10	20	112				
IL1RAPL2	26280	broad.mit.edu	37	X	104728331	104728332	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:104728331_104728332CC>AA	ENST00000372582.1	+	6	1480_1481	c.724_725CC>AA	c.(724-726)CCa>AAa	p.P242K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P242K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	242	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCTCCCAAGCCATTGTTCCCC	0.396																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(724-726)CCA>AAA		interleukin 1 receptor accessory protein-like 2																																				SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728331_104728332CC>AA	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	Exception_encountered	X.37:g.104728331_104728332delinsAA	ENSP00000361663:p.Pro242Lys						p.P242K	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			6	1480_1481	+			242			Ig-like C2-type 3.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	DNP	ENST00000372582.1	37	c.724_725CC>AA	CCDS14517.1																																																																																				0.396	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		21	102	0	0	0	0	21	102				
GLUD2	2747	broad.mit.edu	37	X	120182678	120182678	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:120182678C>A	ENST00000328078.1	+	1	1217	c.1140C>A	c.(1138-1140)atC>atA	p.I380I		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	380					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACATACTGATCCCAGCTGCCA	0.507																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(1138-1140)ATC>ATA		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						189.0	168.0	175.0					X																	120182678		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182678C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1140C>A	X.37:g.120182678C>A							p.I380I	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1217	+			380					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1140C>A	CCDS14603.1																																																																																				0.507	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		64	220	1	0	7.06e-25	8.79e-25	64	220				
STAG2	10735	broad.mit.edu	37	X	123200245	123200245	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:123200245C>A	ENST00000371160.1	+	23	2514	c.2224C>A	c.(2224-2226)Ctt>Att	p.L742I	STAG2_ENST00000371157.3_Missense_Mutation_p.L742I|STAG2_ENST00000218089.9_Missense_Mutation_p.L742I|STAG2_ENST00000354548.5_Missense_Mutation_p.L673I|STAG2_ENST00000371145.3_Missense_Mutation_p.L742I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L742I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	742					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTATGTAATCCTTTGGCAACT	0.328																																						uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(2224-2226)CTT>ATT		stromal antigen 2 isoform b							99.0	82.0	88.0					X																	123200245		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200245C>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2224C>A	X.37:g.123200245C>A	ENSP00000360202:p.Leu742Ile					STAG2_uc004eua.2_Missense_Mutation_p.L742I|STAG2_uc004eub.2_Missense_Mutation_p.L742I|STAG2_uc004euc.2_Missense_Mutation_p.L742I|STAG2_uc004eud.2_Missense_Mutation_p.L742I|STAG2_uc004eue.2_Missense_Mutation_p.L742I	p.L742I	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			22	2563	+			742					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2224C>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564942	0.86439	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.86420	2.815	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.87578	0.976;0.998	T	0.66126	-0.6001	10	0.41790	T	0.15	-17.3512	12.1523	0.54055	0.0:0.9201:0.0:0.0799	.	742;742	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	742;673;742;742;742;742	ENSP00000218089:L742I;ENSP00000346555:L673I;ENSP00000360202:L742I;ENSP00000360199:L742I;ENSP00000360187:L742I;ENSP00000360186:L742I	ENSP00000218089:L742I	L	+	1	0	STAG2	123027926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.965000	0.63708	2.365000	0.80145	0.600000	0.82982	CTT		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		13	110	1	0	1.57e-10	1.86e-10	13	110				
HCFC1	3054	broad.mit.edu	37	X	153223611	153223611	+	Silent	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:153223611A>T	ENST00000310441.7	-	11	2859	c.1893T>A	c.(1891-1893)ccT>ccA	p.P631P	HCFC1_ENST00000354233.3_Silent_p.P562P|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Silent_p.P631P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	631	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGATGATAGGGCGGGTAG	0.622																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(1891-1893)CCT>CCA		host cell factor 1							80.0	84.0	83.0					X																	153223611		2175	4249	6424	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223611A>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1893T>A	X.37:g.153223611A>T							p.P631P	NM_005334	NP_005325	P51610	HCFC1_HUMAN			11	2421	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		631			Interaction with SIN3A.		Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1893T>A	CCDS44020.1																																																																																				0.622	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		18	67	0	0	0	0	18	67				
CYP4A22	284541	broad.mit.edu	37	1	47609524	47609535	+	In_Frame_Del	DEL	CTACAGCCTGAC	CTACAGCCTGAC	-	rs550279903		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:47609524_47609535delCTACAGCCTGAC	ENST00000371891.3	+	6	757_768	c.726_737delCTACAGCCTGAC	c.(724-738)atctacagcctgacc>atc	p.YSLT243del	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_In_Frame_Del_p.YSLT243del	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	243						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGACACCATCTACAGCCTGACCTCTGCTGGC	0.542																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(724-738)ATCTACAGCCTGACC>ATC		cytochrome P450, family 4, subfamily A,																																				SO:0001651	inframe_deletion	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47609524_47609535delCTACAGCCTGAC		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.726_737delCTACAGCCTGAC	1.37:g.47609524_47609535delCTACAGCCTGAC	ENSP00000360958:p.Tyr243_Thr246del					CYP4A22_uc009vyo.2_In_Frame_Del_p.YSLT243del|CYP4A22_uc009vyp.2_Intron	p.YSLT243del	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			6	777_788	+			243_246					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	In_Frame_Del	DEL	ENST00000371891.3	37	c.726_737delCTACAGCCTGAC	CCDS30707.1																																																																																				0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		7	145	NA	NA	NA	NA	7	145	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120502074	120502074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:120502074delT	ENST00000256646.2	-	12	2186	c.1967delA	c.(1966-1968)catfs	p.H656fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	656	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGATTCCATGGATACAAGG	0.428			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1966-1968)CATfs		notch 2 preproprotein							118.0	108.0	111.0					1																	120502074		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120502074delT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1967delA	1.37:g.120502074delT	ENSP00000256646:p.His656fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.H656fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.H573fs	p.H656fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2223	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	656			Extracellular (Potential).|EGF-like 17; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.1967delA	CCDS908.1																																																																																				0.428	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		15	74	NA	NA	NA	NA	15	74	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048343	6048344	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:6048343_6048344insA	ENST00000316650.5	-	1	627_628	c.591_592insT	c.(589-594)gataatfs	p.N198fs		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGAAATTATCACAGGAGA	0.46																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(589-594)GATAATfs		olfactory receptor, family 56, subfamily A,																																				SO:0001589	frameshift_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048343_6048344insA	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.592dupT	11.37:g.6048344_6048344dupA	ENSP00000321246:p.Asn198fs						p.D197fs	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	591_592	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	197_198			Extracellular (Potential).		B2RNI2|Q6IFL0	Frame_Shift_Ins	INS	ENST00000316650.5	37	c.591_592insT	CCDS31405.1																																																																																				0.460	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		12	110	NA	NA	NA	NA	12	110	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	12016562	12016575	+	Frame_Shift_Del	DEL	CCAATATTCTTCTG	CCAATATTCTTCTG	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:12016562_12016575delCCAATATTCTTCTG	ENST00000353533.5	+	7	761_774	c.698_711delCCAATATTCTTCTG	c.(697-711)tccaatattcttctgfs	p.SNILL233fs	MAP2K4_ENST00000415385.3_Frame_Shift_Del_p.SNILL244fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.N234I(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATCAAACCTTCCAATATTCTTCTGGACAGAAGTG	0.388			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	uc002gnj.2		NA		Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.N234I(1)|p.?(1)	ovary(5)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(697-711)TCCAATATTCTTCTGfs		mitogen-activated protein kinase kinase 4																																				SO:0001589	frameshift_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12016562_12016575delCCAATATTCTTCTG	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.698_711delCCAATATTCTTCTG	17.37:g.12016562_12016575delCCAATATTCTTCTG	ENSP00000262445:p.Ser233fs					MAP2K4_uc002gnk.2_Frame_Shift_Del_p.S244fs|MAP2K4_uc010vvi.1_Frame_Shift_Del_p.S115fs|MAP2K4_uc010vvj.1_Frame_Shift_Del_p.S105fs	p.S233fs	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	767_780	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	233_237			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Del	DEL	ENST00000353533.5	37	c.698_711delCCAATATTCTTCTG	CCDS11162.1																																																																																				0.388	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			15	56	NA	NA	NA	NA	15	56	---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12126445	12126446	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:12126445_12126446insA	ENST00000344980.6	-	4	1406_1407	c.1236_1237insT	c.(1234-1239)catgaafs	p.E413fs	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Frame_Shift_Ins_p.E378fs|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	413					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TGAGTTCTTTCATGATATCGGA	0.431																																						uc002msy.1		NA																	0					0						c.(1234-1239)CATGAAfs		zinc finger protein 433																																				SO:0001589	frameshift_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126445_12126446insA	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1237dupT	19.37:g.12126446_12126446dupA	ENSP00000339767:p.Glu413fs					uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Ins_p.H377fs	p.H412fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1407_1408	-			412_413			C2H2-type 10.		Q86VX3	Frame_Shift_Ins	INS	ENST00000344980.6	37	c.1236_1237insT	CCDS45983.1																																																																																				0.431	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		44	92	NA	NA	NA	NA	44	92	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133477960	133477961	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:133477960_133477961insGG	ENST00000321584.4	+	6	916_917	c.720_721insGG	c.(721-723)gggfs	p.G241fs	TCF7_ENST00000432532.2_Frame_Shift_Ins_p.G126fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.G126fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.G126fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.G241fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.G126fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.G241fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.G241fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.G241fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.G126fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	241					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCCCCCTCAGGGAAGCAGGA	0.604																																						uc003kyt.2		NA																	0					0						c.(718-723)TCAGGGfs		transcription factor 7 (T-cell specific,																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133477960_133477961insGG	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.721_722dupGG	5.37:g.133477961_133477962dupGG	ENSP00000326540:p.Gly241fs					TCF7_uc003kyu.1_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyv.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyw.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyx.2_Frame_Shift_Ins_p.S38fs|TCF7_uc003kyy.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kyz.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kza.2_Frame_Shift_Ins_p.S125fs|TCF7_uc003kzb.2_Frame_Shift_Ins_p.S54fs|TCF7_uc010jdu.2_5'Flank	p.S240fs	NM_003202	NP_003193	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	916_917	+		Breast(839;0.058)	240_241					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.720_721insGG																																																																																					0.604	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		8	81	NA	NA	NA	NA	8	81	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31610753	31610754	+	Frame_Shift_Ins	INS	-	-	A	rs200711453	byFrequency	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:31610753_31610754insA	ENST00000375964.6	-	14	2118_2119	c.1805_1806insT	c.(1804-1806)atgfs	p.M602fs	BAG6_ENST00000211379.5_Frame_Shift_Ins_p.M596fs|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.M596fs|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.M632fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.M596fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	602	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GAAGATCAGCCATGGAGGGTTG	0.653																																						uc003nvg.3		NA																	0					0						c.(1804-1806)ATGfs		HLA-B associated transcript-3 isoform a																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31610753_31610754insA	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1806dupT	6.37:g.31610754_31610754dupA	ENSP00000365131:p.Met602fs					BAT3_uc003nvf.3_Frame_Shift_Ins_p.M596fs|BAT3_uc003nvh.3_Frame_Shift_Ins_p.M596fs|BAT3_uc003nvi.3_Frame_Shift_Ins_p.M596fs|BAT3_uc011dnw.1_Frame_Shift_Ins_p.M596fs|BAT3_uc011dnx.1_Intron	p.M602fs	NM_004639	NP_004630	P46379	BAG6_HUMAN			14	2119_2120	-			602			3.|4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.1805_1806insT	CCDS47403.1																																																																																				0.653	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		12	18	NA	NA	NA	NA	12	18	---	---	---	---
GNB2	2783	broad.mit.edu	37	7	100276221	100276224	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100276221_100276224delGAAG	ENST00000303210.4	+	9	1382_1385	c.900_903delGAAG	c.(898-903)atgaagfs	p.MK300fs	GNB2_ENST00000436220.1_Frame_Shift_Del_p.MK256fs|GNB2_ENST00000393924.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000419828.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000427895.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000393926.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000424361.1_Frame_Shift_Del_p.MK256fs	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	300					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GGGATGCCATGAAGGGCGACCGTG	0.608																																						uc003uwb.2		NA																	0				ovary(2)	2						c.(898-903)ATGAAGfs		guanine nucleotide-binding protein, beta-2																																				SO:0001589	frameshift_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276221_100276224delGAAG	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.900_903delGAAG	7.37:g.100276221_100276224delGAAG	ENSP00000305260:p.Met300fs					GNB2_uc003uwc.2_Frame_Shift_Del_p.M256fs|GNB2_uc010lhd.2_Frame_Shift_Del_p.M256fs|GNB2_uc010lhe.2_Frame_Shift_Del_p.M256fs|GNB2_uc003uwd.2_Frame_Shift_Del_p.M200fs|GNB2_uc010lhf.2_Frame_Shift_Del_p.M200fs|GNB2_uc003uwe.2_Frame_Shift_Del_p.M300fs|GNB2_uc003uwf.2_Frame_Shift_Del_p.M200fs	p.M300fs	NM_005273	NP_005264	P62879	GBB2_HUMAN			9	1173_1176	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	300_301					B3KPU1|P11016|P54312	Frame_Shift_Del	DEL	ENST00000303210.4	37	c.900_903delGAAG	CCDS5703.1																																																																																				0.608	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		20	71	NA	NA	NA	NA	20	71	---	---	---	---
PAXIP1	22976	broad.mit.edu	37	7	154738224	154738225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:154738224_154738225insT	ENST00000404141.1	-	19	3284_3285	c.3130_3131insA	c.(3130-3132)atafs	p.I1044fs	PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.I1044fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1044	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAACGTACCTATGCCTCTGGCA	0.406																																						uc003wlp.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3130-3132)ATAfs		PAX interacting protein 1																																				SO:0001589	frameshift_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154738224_154738225insT	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3131dupA	7.37:g.154738225_154738225dupT	ENSP00000384048:p.Ile1044fs					LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Frame_Shift_Ins_p.I1010fs|PAXIP1_uc011kvs.1_Frame_Shift_Ins_p.I1008fs	p.I1044fs	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	19	3173_3174	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	1044			Interaction with TP53BP1.|BRCT 6.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Ins	INS	ENST00000404141.1	37	c.3130_3131insA	CCDS47753.1																																																																																				0.406	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		27	76	NA	NA	NA	NA	27	76	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138820082	138820084	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:138820082_138820084delCTT	ENST00000327569.3	-	28	3386_3388	c.3288_3290delAAG	c.(3286-3291)agaagt>agt	p.R1096del	ATP11C_ENST00000361648.2_In_Frame_Del_p.R1096del|ATP11C_ENST00000359686.2_In_Frame_Del_p.R1096del|ATP11C_ENST00000370557.1_In_Frame_Del_p.R1090del|ATP11C_ENST00000370543.1_In_Frame_Del_p.R1096del|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1096					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACCCTGGCACTTCTTCTTCTTA	0.355														2	0.000529801	0.0	0.0	3775	,	,		11737	0.001		0.0	False		,,,				2504	0.001					uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(3286-3291)AGAAGT>AGT		ATPase, class VI, type 11C isoform a																																				SO:0001651	inframe_deletion	286410				ATP biosynthetic process	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.chrX:138820082_138820084delCTT	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3288_3290delAAG	X.37:g.138820091_138820093delCTT	ENSP00000332756:p.Arg1096del					ATP11C_uc004fax.2_In_Frame_Del_p.R304del|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_In_Frame_Del_p.R1096del	p.R1096del	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			28	3387_3389	-	Acute lymphoblastic leukemia(192;0.000127)		1096			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	In_Frame_Del	DEL	ENST00000327569.3	37	c.3288_3290delAAG	CCDS14668.1																																																																																				0.355	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		15	149	NA	NA	NA	NA	15	149	---	---	---	---
