#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
C1orf86	199990	broad.mit.edu	37	1	2121153	2121153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:2121153A>G	ENST00000378546.4	-	4	562	c.538T>C	c.(538-540)Tgg>Cgg	p.W180R	C1orf86_ENST00000378545.3_Missense_Mutation_p.W283R|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|AL590822.2_ENST00000597060.1_5'Flank	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	180					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGCGCTCACCACGTCACGTCT	0.706																																						uc001aiy.2		NaN																	0					0						c.(538-540)TGG>CGG		hypothetical protein LOC199990 isoform 2							68.0	54.0	59.0					1																	2121153		2203	4300	6503	SO:0001583	missense	199990							g.chr1:2121153A>G	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.538T>C	1.37:g.2121153A>G	ENSP00000367808:p.Trp180Arg					C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron|uc001aiz.1_5'Flank	p.W180R	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	564	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	180					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	c.538T>C	CCDS38.2	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149494	0.57151	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.74106	-0.73;-0.81	5.55	5.55	0.83447	.	.	.	.	.	D	0.85720	0.5762	.	.	.	0.30638	N	0.756717	D	0.89917	1.0	D	0.78314	0.991	D	0.85208	0.1019	8	0.87932	D	0	-11.7103	14.9137	0.70778	1.0:0.0:0.0:0.0	.	180	Q6NZ36	CA086_HUMAN	R	180;283	ENSP00000367808:W180R;ENSP00000367807:W283R	ENSP00000367807:W283R	W	-	1	0	C1orf86	2111013	1.000000	0.71417	0.922000	0.36590	0.055000	0.15305	7.841000	0.86834	2.124000	0.65301	0.374000	0.22700	TGG		0.706	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533		12	40	0	0	0	0.020292	0	12	40		
SYF2	25949	broad.mit.edu	37	1	25551554	25551554	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:25551554G>A	ENST00000236273.4	-	6	530	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	SYF2_ENST00000354361.3_Missense_Mutation_p.H127Y	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	169					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TGTGTTCCATGAAGAAGACTA	0.373																																						uc001bjt.1		NaN																	0					0						c.(505-507)CAT>TAT		SYF2 homolog, RNA splicing factor isoform 1							174.0	150.0	158.0					1																	25551554		2203	4300	6503	SO:0001583	missense	25949					catalytic step 2 spliceosome		g.chr1:25551554G>A	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.505C>T	1.37:g.25551554G>A	ENSP00000236273:p.His169Tyr					SYF2_uc001bju.1_Missense_Mutation_p.H127Y	p.H169Y	NM_015484	NP_056299	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	6	560	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	169					Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	c.505C>T	CCDS259.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080891	0.36758	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.39787	1.06;1.07	5.63	5.63	0.86233	.	0.139890	0.64402	D	0.000004	T	0.25717	0.0626	N	0.12569	0.235	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.004	T	0.12243	-1.0555	10	0.02654	T	1	-15.6774	18.6919	0.91586	0.0:0.0:1.0:0.0	.	169;169	B2RBX8;O95926	.;SYF2_HUMAN	Y	169;127	ENSP00000236273:H169Y;ENSP00000346330:H127Y	ENSP00000236273:H169Y	H	-	1	0	SYF2	25424141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.349000	0.66010	2.824000	0.97209	0.592000	0.82586	CAT		0.373	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1		NM_015484		33	79	0	0	0	0.036044	0	33	79		
PIGV	55650	broad.mit.edu	37	1	27124128	27124128	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:27124128G>A	ENST00000374145.1	+	4	1957	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	PIGV_ENST00000078527.4_Silent_p.E425E|PIGV_ENST00000449950.2_Silent_p.E197E	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	425					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGATCAAGAGCCGCTGTTGA	0.488																																						uc001bmz.2		NaN																	0				ovary(1)	1						c.(1273-1275)GAG>GAA		phosphatidylinositol glycan class V							108.0	102.0	104.0					1																	27124128		2203	4300	6503	SO:0001819	synonymous_variant	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27124128G>A	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1275G>A	1.37:g.27124128G>A						PIGV_uc001bmy.2_Silent_p.E190E|PIGV_uc009vso.2_Missense_Mutation_p.A419T|PIGV_uc010ofg.1_Silent_p.E190E|PIGV_uc001bna.2_Silent_p.E425E	p.E425E	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	4	1606	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	425			Lumenal (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	c.1275G>A	CCDS287.1																																																																																				0.488	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1		NM_017837		23	60	0	0	0	0.016522	0	23	60		
ZMYM4	9202	broad.mit.edu	37	1	35864515	35864515	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:35864515C>T	ENST00000314607.6	+	22	3384	c.3304C>T	c.(3304-3306)Cca>Tca	p.P1102S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P1013S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1102					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTATCTACTCCACATAGCTG	0.398																																						uc001byt.2		NaN																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(3304-3306)CCA>TCA		zinc finger protein 262							109.0	106.0	107.0					1																	35864515		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35864515C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3304C>T	1.37:g.35864515C>T	ENSP00000322915:p.Pro1102Ser					ZMYM4_uc009vuu.2_Missense_Mutation_p.P1070S|ZMYM4_uc001byu.2_Missense_Mutation_p.P778S|ZMYM4_uc009vuv.2_Missense_Mutation_p.P841S	p.P1102S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			22	3384	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1102					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3304C>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.413711|4.413711	0.83449|0.83449	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.21734|.	1.99;2.03|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.112873|.	0.64402|.	D|.	0.000011|.	T|T	0.67655|0.67655	0.2916|0.2916	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.58268|.	0.982|.	P|.	0.55545|.	0.778|.	T|T	0.61456|0.61456	-0.7059|-0.7059	10|5	0.28530|.	T|.	0.3|.	-10.9161|-10.9161	19.975|19.975	0.97300|0.97300	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1102|.	Q5VZL5|.	ZMYM4_HUMAN|.	S|F	1102;1013|760	ENSP00000322915:P1102S;ENSP00000362394:P1013S|.	ENSP00000322915:P1102S|.	P|S	+|+	1|2	0|0	ZMYM4|ZMYM4	35637102|35637102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	4.599000|4.599000	0.61076|0.61076	2.724000|2.724000	0.93272|0.93272	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095		14	84	0	0	0	0.008871	0	14	84		
LRRC41	10489	broad.mit.edu	37	1	46746098	46746098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:46746098C>T	ENST00000343304.6	-	6	2176	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	631					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGCCCAAAATCCTGGGGAGAG	0.572																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1891-1893)GAT>AAT		MUF1 protein							90.0	97.0	95.0					1																	46746098		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746098C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1891G>A	1.37:g.46746098C>T	ENSP00000343298:p.Asp631Asn					LRRC41_uc010omb.1_Missense_Mutation_p.D631N	p.D631N	NM_006369	NP_006360	Q15345	LRC41_HUMAN			6	1935	-	Acute lymphoblastic leukemia(166;0.155)		631			LRR 4.		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1891G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904021	0.92035	.	.	ENSG00000132128	ENST00000343304	T	0.53206	0.63	5.81	5.81	0.92471	.	0.216928	0.40385	N	0.001114	T	0.37812	0.1017	N	0.08118	0	0.35183	D	0.77263	P;P	0.50819	0.939;0.939	P;B	0.46076	0.503;0.402	T	0.50065	-0.8871	10	0.45353	T	0.12	-9.6728	20.1472	0.98082	0.0:1.0:0.0:0.0	.	631;631	Q15345-3;Q15345	.;LRC41_HUMAN	N	631	ENSP00000343298:D631N	ENSP00000343298:D631N	D	-	1	0	LRRC41	46518685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.766000	0.95052	0.644000	0.83932	GAT		0.572	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		19	103	0	0	0	0.012319	0	19	103		
OSBPL9	114883	broad.mit.edu	37	1	52251500	52251500	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52251500C>G	ENST00000428468.1	+	21	1852	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	OSBPL9_ENST00000486942.1_Missense_Mutation_p.S439C|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S452C|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S604C|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S536C|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S452C|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S600C|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S635C|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S507C|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S439C|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S627C|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S622C			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	617					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GACAAGAAGTCTTTTTGCTCA	0.383																																						uc001cst.2		NaN																	0				central_nervous_system(1)	1						c.(1849-1851)TCT>TGT		oxysterol binding protein-like 9 isoform e							128.0	119.0	122.0					1																	52251500		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52251500C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1850C>G	1.37:g.52251500C>G	ENSP00000407168:p.Ser617Cys					OSBPL9_uc001css.2_Missense_Mutation_p.S622C|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S618C|OSBPL9_uc001csu.2_Missense_Mutation_p.S627C|OSBPL9_uc001csv.2_Missense_Mutation_p.S452C|OSBPL9_uc001csw.2_Missense_Mutation_p.S604C|OSBPL9_uc001csy.2_Missense_Mutation_p.S439C|OSBPL9_uc001csz.2_Missense_Mutation_p.S439C|OSBPL9_uc001cta.2_Missense_Mutation_p.S507C|OSBPL9_uc001ctb.2_Missense_Mutation_p.S402C	p.S617C	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN			21	1869	+			617					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1850C>G	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042044	0.93685	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.52	5.52	0.82312	.	0.100643	0.64402	D	0.000001	T	0.50257	0.1605	L	0.58101	1.795	0.52501	D	0.99995	B;P;D;P;P	0.57899	0.371;0.909;0.981;0.564;0.915	B;P;P;P;P	0.58577	0.382;0.754;0.841;0.778;0.8	T	0.44360	-0.9333	10	0.62326	D	0.03	-15.7823	19.6361	0.95733	0.0:1.0:0.0:0.0	.	600;507;633;617;622	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	C	604;635;622;627;452;617;600;536;452;507;439;439	ENSP00000360779:S604C;ENSP00000360775:S635C;ENSP00000337265:S622C;ENSP00000412733:S627C;ENSP00000402646:S452C;ENSP00000407168:S617C;ENSP00000413263:S600C;ENSP00000433675:S536C;ENSP00000433083:S452C;ENSP00000354970:S507C;ENSP00000433279:S439C;ENSP00000431980:S439C	ENSP00000337265:S622C	S	+	2	0	OSBPL9	52024088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.607000	0.82883	2.878000	0.98634	0.650000	0.86243	TCT		0.383	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4				23	113	0	0	0	0.037714	0	23	113		
ZCCHC11	23318	broad.mit.edu	37	1	52991393	52991393	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52991393G>A	ENST00000371544.3	-	2	822	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S187F|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S187F	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	187					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGAAGTAAAGGAGCTTGGAAT	0.413																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(559-561)TCC>TTC		zinc finger, CCHC domain containing 11 isoform							169.0	177.0	174.0					1																	52991393		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991393G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.560C>T	1.37:g.52991393G>A	ENSP00000360599:p.Ser187Phe					ZCCHC11_uc001cty.2_Missense_Mutation_p.S187F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S187F|ZCCHC11_uc009vze.1_Missense_Mutation_p.S187F|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.S187F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.S187F	p.S187F	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			2	794	-			187					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.560C>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474858	0.43942	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.24	3.2	0.36748	.	0.562709	0.16446	N	0.214084	D	0.85986	0.5825	L	0.55481	1.735	0.09310	N	1	P;P;D;P	0.56035	0.736;0.955;0.974;0.612	B;P;P;B	0.54312	0.372;0.748;0.748;0.347	T	0.76769	-0.2837	10	0.62326	D	0.03	.	8.6311	0.33919	0.0809:0.2891:0.6301:0.0	.	187;187;187;187	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	F	187	ENSP00000257177:S187F;ENSP00000360599:S187F;ENSP00000433486:S187F;ENSP00000348063:S187F	ENSP00000257177:S187F	S	-	2	0	ZCCHC11	52763981	0.619000	0.27059	0.943000	0.38184	0.722000	0.41435	1.351000	0.34022	1.312000	0.45043	0.655000	0.94253	TCC		0.413	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		29	144	0	0	0	0.012213	0	29	144		
DOCK7	85440	broad.mit.edu	37	1	62993831	62993831	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:62993831G>A	ENST00000340370.5	-	30	3851	c.3834C>T	c.(3832-3834)ctC>ctT	p.L1278L	DOCK7_ENST00000251157.5_Silent_p.L1309L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1309					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGTTGACGTGAGGAGGAAAC	0.413																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(3925-3927)CTC>CTT		dedicator of cytokinesis 7							120.0	103.0	108.0					1																	62993831		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62993831G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3834C>T	1.37:g.62993831G>A						DOCK7_uc001dan.2_Silent_p.L1170L|DOCK7_uc001dao.2_Silent_p.L1170L|DOCK7_uc001dap.2_Silent_p.L1278L|DOCK7_uc001dam.2_Silent_p.L489L|DOCK7_uc010oov.1_Intron	p.L1309L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			31	3961	-			1309					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.3927C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840937	0.16891	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.46	3.53	0.40419	.	.	.	.	.	T	0.54951	0.1890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51220	-0.8733	4	.	.	.	.	6.0752	0.19911	0.0719:0.1343:0.6546:0.1392	.	.	.	.	Y	481	.	.	H	-	1	0	DOCK7	62766419	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.644000	0.46613	1.303000	0.44873	0.555000	0.69702	CAC		0.413	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		11	58	0	0	0	0.013537	0	11	58		
DNAJB4	11080	broad.mit.edu	37	1	78479241	78479241	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:78479241C>A	ENST00000370763.5	+	2	975	c.718C>A	c.(718-720)Cat>Aat	p.H240N	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	240					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGACAAAGATCATCCAAAATT	0.323																																						uc001dij.2		NaN																	0					0						c.(718-720)CAT>AAT		DnaJ (Hsp40) homolog, subfamily B, member 4							47.0	54.0	52.0					1																	78479241		2097	4261	6358	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479241C>A	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.718C>A	1.37:g.78479241C>A	ENSP00000359799:p.His240Asn					DNAJB4_uc010orn.1_Missense_Mutation_p.H125N	p.H240N	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			2	877	+			240					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.718C>A	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766558	0.90020	.	.	ENSG00000162616	ENST00000370763	T	0.56103	0.48	5.33	5.33	0.75918	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.85777	2.775	0.80722	D	1	P	0.42556	0.783	P	0.48166	0.569	T	0.69803	-0.5046	10	0.72032	D	0.01	.	19.0881	0.93213	0.0:1.0:0.0:0.0	.	240	Q9UDY4	DNJB4_HUMAN	N	240	ENSP00000359799:H240N	ENSP00000359799:H240N	H	+	1	0	DNAJB4	78251829	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.476000	0.83614	0.650000	0.86243	CAT		0.323	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3				20	92	1	0	9.57634e-11	0.01892	1.06179e-10	20	92		
IFI44L	10964	broad.mit.edu	37	1	79102774	79102774	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:79102774C>G	ENST00000370751.5	+	6	1113	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Missense_Mutation_p.L54V	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	312					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCTCCATCTCTGAAGGACAG	0.368																																						uc010oro.1		NaN																	0					0						c.(934-936)CTG>GTG		interferon-induced protein 44-like							168.0	172.0	171.0					1																	79102774		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79102774C>G	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.934C>G	1.37:g.79102774C>G	ENSP00000359787:p.Leu312Val					IFI44L_uc010orp.1_Missense_Mutation_p.L49V|IFI44L_uc010orq.1_Missense_Mutation_p.L49V	p.L312V	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			6	1113	+			312					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.934C>G	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069593	0.36470	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.36878	2.7;1.23	4.08	2.17	0.27698	.	0.216716	0.30193	N	0.010199	T	0.43986	0.1272	M	0.85462	2.755	0.28494	N	0.914313	D	0.89917	1.0	D	0.72338	0.977	T	0.31916	-0.9926	10	0.66056	D	0.02	-7.0261	6.5937	0.22661	0.0:0.6751:0.0:0.3249	.	312	Q53G44	IF44L_HUMAN	V	312;54	ENSP00000359787:L312V;ENSP00000342833:L54V	ENSP00000342833:L54V	L	+	1	2	IFI44L	78875362	0.008000	0.16893	0.637000	0.29366	0.508000	0.34012	-0.051000	0.11885	0.449000	0.26747	0.460000	0.39030	CTG		0.368	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3		NM_006820		29	158	0	0	0	0.030466	0	29	158		
CCBL2	56267	broad.mit.edu	37	1	89414843	89414843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:89414843C>T	ENST00000260508.4	-	11	1409	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.E324K	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	358					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CCAACACTTTCAAGTAAACGT	0.373																																						uc001dmp.2		NaN																	0				ovary(1)	1						c.(1072-1074)GAA>AAA		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						117.0	107.0	111.0					1																	89414843		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89414843C>T	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1072G>A	1.37:g.89414843C>T	ENSP00000260508:p.Glu358Lys					CCBL2_uc001dmq.2_Missense_Mutation_p.E324K|CCBL2_uc001dmr.2_Missense_Mutation_p.E194K	p.E358K	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	11	1449	-		Lung NSC(277;0.123)	358					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.1072G>A	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	8.899	0.955802	0.18507	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	T;T	0.43294	0.95;0.95	5.47	1.76	0.24704	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.705929	0.14859	N	0.294212	T	0.04724	0.0128	N	0.02539	-0.55	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.41270	-0.9518	10	0.06494	T	0.89	-26.4336	5.9931	0.19478	0.0:0.3867:0.3421:0.2712	.	358	Q6YP21	KAT3_HUMAN	K	324;358	ENSP00000359522:E324K;ENSP00000260508:E358K	ENSP00000260508:E358K	E	-	1	0	CCBL2	89187431	0.795000	0.28851	1.000000	0.80357	0.906000	0.53458	0.398000	0.20899	1.315000	0.45114	0.563000	0.77884	GAA		0.373	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3		NM_001008661		18	73	0	0	0	0.012319	0	18	73		
ABCD3	5825	broad.mit.edu	37	1	94933515	94933515	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:94933515G>C	ENST00000370214.4	+	4	311	c.287G>C	c.(286-288)cGa>cCa	p.R96P	ABCD3_ENST00000394233.2_Missense_Mutation_p.R96P|ABCD3_ENST00000536817.1_Missense_Mutation_p.R23P|ABCD3_ENST00000454898.2_Missense_Mutation_p.R120P|ABCD3_ENST00000315713.5_Missense_Mutation_p.R96P	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	96	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTGGTGTCTCGAACATATTGT	0.313																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(286-288)CGA>CCA		ATP-binding cassette, sub-family D, member 3							184.0	176.0	179.0					1																	94933515		2203	4299	6502	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94933515G>C	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.287G>C	1.37:g.94933515G>C	ENSP00000359233:p.Arg96Pro					ABCD3_uc001dqm.3_Missense_Mutation_p.R96P|ABCD3_uc010oto.1_Missense_Mutation_p.R120P|ABCD3_uc010otp.1_Missense_Mutation_p.R23P|ABCD3_uc009wdr.2_Missense_Mutation_p.R96P	p.R96P	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	4	389	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	96			ABC transmembrane type-1.|Targeting to peroxisomes.|Helical; (Potential).|Interaction with PEX19.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.287G>C	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205073	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62	5.51	4.6	0.57074	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	D	0.97035	0.9753	10	0.87932	D	0	-6.8767	14.187	0.65612	0.0721:0.0:0.9279:0.0	.	120;96;96;96	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	P	96;120;23;96;96	ENSP00000377780:R96P;ENSP00000403357:R120P;ENSP00000440692:R23P;ENSP00000359233:R96P;ENSP00000326880:R96P	ENSP00000326880:R96P	R	+	2	0	ABCD3	94706103	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.292000	0.96076	1.324000	0.45282	0.561000	0.74099	CGA		0.313	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		7	55	0	0	0	0.008291	0	7	55		
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:103483426G>A	ENST00000370096.3	-	11	1675	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P339S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P467S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1363-1365)CCT>TCT		alpha 1 type XI collagen isoform A							98.0	101.0	100.0					1																	103483426		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483426G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1363C>T	1.37:g.103483426G>A	ENSP00000359114:p.Pro455Ser					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P467S|COL11A1_uc001dun.2_Missense_Mutation_p.P416S|COL11A1_uc009weh.2_Missense_Mutation_p.P339S	p.P455S	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1681	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	455			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1363C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791481	0.70452	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-2.34;-2.34	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.96552	0.8875	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.996;0.997	D;D;D;D	0.81914	0.992;0.986;0.991;0.995	D	0.96059	0.9037	10	0.52906	T	0.07	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	455;467;416;339;467	ENSP00000359114:P455S;ENSP00000351163:P467S;ENSP00000302551:P416S;ENSP00000426533:P339S;ENSP00000408640:P467S	ENSP00000302551:P416S	P	-	1	0	COL11A1	103256014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		44	94	0	0	0	0.01441	0	44	94		
NTNG1	22854	broad.mit.edu	37	1	108023313	108023313	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:108023313G>T	ENST00000370068.1	+	8	2317	c.1471G>T	c.(1471-1473)Gca>Tca	p.A491S	NTNG1_ENST00000370071.2_Missense_Mutation_p.A432S|NTNG1_ENST00000370072.3_Missense_Mutation_p.A446S|NTNG1_ENST00000370065.1_Missense_Mutation_p.A446S|NTNG1_ENST00000370070.2_Missense_Mutation_p.A412S|NTNG1_ENST00000370074.4_Missense_Mutation_p.A390S|NTNG1_ENST00000370067.1_Missense_Mutation_p.A412S|NTNG1_ENST00000370061.3_Missense_Mutation_p.A457S|NTNG1_ENST00000542803.1_Missense_Mutation_p.A491S|NTNG1_ENST00000370066.1_Missense_Mutation_p.A432S|NTNG1_ENST00000370073.2_Missense_Mutation_p.A491S			Q9Y2I2	NTNG1_HUMAN	netrin G1	491					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGCCCGGCCGCATACACGGG	0.687																																						uc001dvh.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1471-1473)GCA>TCA		netrin G1 isoform 1							25.0	28.0	27.0					1																	108023313		2203	4298	6501	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023313G>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1471G>T	1.37:g.108023313G>T	ENSP00000359085:p.Ala491Ser					NTNG1_uc001dvf.3_Missense_Mutation_p.A432S|NTNG1_uc010out.1_Missense_Mutation_p.A457S|NTNG1_uc001dvc.3_Missense_Mutation_p.A390S|NTNG1_uc001dvi.2_Silent_p.P58P|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R53L	p.A491S	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	8	2189	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	491					Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1471G>T	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413724	0.42817	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	T;D;T;T;T;D;D;T;D;D;T	0.91407	0.03;-2.84;0.03;0.03;0.14;-2.84;-2.84;0.03;-2.84;-2.84;0.21	4.87	4.87	0.63330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.169641	0.27012	N	0.021366	T	0.74558	0.3732	N	0.20685	0.6	0.22620	N	0.99893	B;B;B;B	0.22683	0.046;0.018;0.063;0.073	B;B;B;B	0.24155	0.034;0.021;0.051;0.045	T	0.65948	-0.6044	10	0.40728	T	0.16	.	12.8024	0.57594	0.0794:0.0:0.9206:0.0	.	457;491;432;390	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	S	491;432;491;457;446;412;390;294;238;390;491;412;432;446	ENSP00000359090:A491S;ENSP00000359088:A432S;ENSP00000440561:A491S;ENSP00000359078:A457S;ENSP00000359089:A446S;ENSP00000359087:A412S;ENSP00000359091:A390S;ENSP00000359085:A491S;ENSP00000359084:A412S;ENSP00000359083:A432S;ENSP00000359082:A446S	ENSP00000359078:A457S	A	+	1	0	NTNG1	107824836	0.991000	0.36638	0.862000	0.33874	0.470000	0.32858	6.450000	0.73477	2.384000	0.81235	0.462000	0.41574	GCA		0.687	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1		NM_014917		7	50	1	0	1.58986e-06	0.008291	1.67186e-06	7	50		
SYT6	148281	broad.mit.edu	37	1	114640500	114640500	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:114640500C>G	ENST00000610222.1	-	6	1511		c.e6-1		SYT6_ENST00000393296.1_Splice_Site|SYT6_ENST00000369547.1_Splice_Site|SYT6_ENST00000609117.1_Splice_Site|SYT6_ENST00000607941.1_Splice_Site			Q5T7P8	SYT6_HUMAN	synaptotagmin VI						acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCCACTCTGAGGGAGAA	0.577																																						uc001eev.2		NaN																	1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.e6-1		synaptotagmin VI							72.0	67.0	69.0					1																	114640500		2203	4300	6503	SO:0001630	splice_region_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114640500C>G		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1365-1G>C	1.37:g.114640500C>G						SYT6_uc001eeu.2_Splice_Site_p.R15_splice	p.R370_splice	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1360	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)						B1AMB8|B3KPK1	Splice_Site	SNP	ENST00000610222.1	37	c.1110_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.969155	0.74131	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4355	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT6	114442023	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.780000	0.85658	2.593000	0.87608	0.462000	0.41574	.		0.577	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2		NM_205848	Intron	15	77	0	0	0	0.010504	0	15	77		
WDR3	10885	broad.mit.edu	37	1	118496158	118496158	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496158G>A	ENST00000349139.5	+	21	2309	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	754						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGAAACAGTGAAAGCAGTAA	0.333																																						uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2260-2262)GTG>GTA		WD repeat-containing protein 3							80.0	80.0	80.0					1																	118496158		2202	4298	6500	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118496158G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2262G>A	1.37:g.118496158G>A						WDR3_uc001ehi.2_Intron	p.V754V	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	21	2328	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	754						Silent	SNP	ENST00000349139.5	37	c.2262G>A	CCDS898.1																																																																																				0.333	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		17	40	0	0	0	0.010504	0	17	40		
WDR3	10885	broad.mit.edu	37	1	118496687	118496687	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496687G>A	ENST00000349139.5	+	22	2373	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	776						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAAAATGAAGGAACACAAAGC	0.398																																						uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2326-2328)GAA>AAA		WD repeat-containing protein 3							148.0	145.0	146.0					1																	118496687		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118496687G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2326G>A	1.37:g.118496687G>A	ENSP00000308179:p.Glu776Lys					WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	p.E776K	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	22	2392	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	776						Missense_Mutation	SNP	ENST00000349139.5	37	c.2326G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741047	0.89573	.	.	ENSG00000065183	ENST00000349139	T	0.56103	0.48	6.1	6.1	0.99115	.	0.159315	0.64402	D	0.000018	T	0.55625	0.1932	M	0.79475	2.455	0.80722	D	1	P	0.52463	0.953	P	0.45829	0.494	T	0.61187	-0.7113	10	0.54805	T	0.06	-25.3178	20.7114	0.99707	0.0:0.0:1.0:0.0	.	776	Q9UNX4	WDR3_HUMAN	K	776	ENSP00000308179:E776K	ENSP00000308179:E776K	E	+	1	0	WDR3	118298210	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	9.680000	0.98651	2.902000	0.99343	0.603000	0.83216	GAA		0.398	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		25	56	0	0	0	0.017118	0	25	56		
RUSC1	23623	broad.mit.edu	37	1	155291967	155291967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155291967C>T	ENST00000368352.5	+	2	554	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Nonsense_Mutation_p.Q135*|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	135					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGCCCACCCTCAGCCCAGTAT	0.622																																						uc001fkj.2		NaN																	0				ovary(2)	2						c.(403-405)CAG>TAG		RUN and SH3 domain containing 1 isoform a							53.0	56.0	55.0					1																	155291967		2044	4176	6220	SO:0001587	stop_gained	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155291967C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.403C>T	1.37:g.155291967C>T	ENSP00000357336:p.Gln135*					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.Q135*|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	p.Q135*	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	632	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		135					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Nonsense_Mutation	SNP	ENST00000368352.5	37	c.403C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874043	0.91664	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	.	.	.	4.7	3.76	0.43208	.	0.142098	0.32836	N	0.005589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3024	12.4468	0.55654	0.0:0.8296:0.1704:0.0	.	.	.	.	X	135	.	ENSP00000357336:Q135X	Q	+	1	0	RUSC1	153558591	0.785000	0.28726	0.956000	0.39512	0.992000	0.81027	2.232000	0.43018	1.159000	0.42565	0.561000	0.74099	CAG		0.622	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				11	70	0	0	0	0.016723	0	11	70		
GON4L	54856	broad.mit.edu	37	1	155791331	155791331	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155791331G>A	ENST00000368331.1	-	5	945	c.897C>T	c.(895-897)atC>atT	p.I299I	GON4L_ENST00000271883.5_Silent_p.I299I|GON4L_ENST00000437809.1_Silent_p.I299I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.I299I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	299					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCATTTGTGATTACTTCCT	0.393																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(895-897)ATC>ATT		gon-4-like isoform a							202.0	162.0	176.0					1																	155791331		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155791331G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.897C>T	1.37:g.155791331G>A						GON4L_uc001fly.1_Silent_p.I299I|GON4L_uc009wrh.1_Silent_p.I299I|GON4L_uc001fma.1_Silent_p.I299I|GON4L_uc001fmc.2_Silent_p.I299I|GON4L_uc001fmd.3_Silent_p.I299I|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Silent_p.I127I|GON4L_uc001fmf.2_5'UTR	p.I299I	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			5	994	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		299					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.897C>T																																																																																					0.393	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		16	72	0	0	0	0.028581	0	16	72		
TMCO1	54499	broad.mit.edu	37	1	165737466	165737466	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:165737466C>G	ENST00000392129.6	-	2	261	c.111G>C	c.(109-111)aaG>aaC	p.K37N	TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000367881.5_Missense_Mutation_p.K88N|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	37						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTTCAGTCTCTTGTACTTGT	0.363																																						uc001gdj.3		NaN																	0				central_nervous_system(1)	1						c.(109-111)AAG>AAC		transmembrane and coiled-coil domains 1							171.0	153.0	159.0					1																	165737466		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165737466C>G	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.111G>C	1.37:g.165737466C>G	ENSP00000375975:p.Lys37Asn					TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Missense_Mutation_p.K25N|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank	p.K37N	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			2	260	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		37			Potential.		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.111G>C		.	.	.	.	.	.	.	.	.	.	C	19.95	3.921251	0.73213	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	4.77	0.60923	.	0.085536	0.85682	N	0.000000	T	0.64853	0.2636	M	0.76574	2.34	0.49687	D	0.999810	D;D	0.57257	0.979;0.979	D;P	0.64877	0.93;0.872	T	0.71234	-0.4653	8	0.54805	T	0.06	.	12.2781	0.54749	0.0:0.918:0.0:0.082	.	25;37	B7Z591;Q9UM00	.;TMCO1_HUMAN	N	37	.	ENSP00000356856:K37N	K	-	3	2	TMCO1	164004090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.756000	0.47549	1.403000	0.46800	0.561000	0.74099	AAG		0.363	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1		NM_019026		6	41	0	0	0	0.00308	0	6	41		
F5	2153	broad.mit.edu	37	1	169551671	169551671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:169551671G>A	ENST00000367797.3	-	2	449	c.248C>T	c.(247-249)tCa>tTa	p.S83L	F5_ENST00000367796.3_Missense_Mutation_p.S83L|F5_ENST00000546081.1_Intron	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	83	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGCTTACCTGAAATGGTAGA	0.264																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(247-249)TCA>TTA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						29.0	29.0	29.0					1																	169551671		2175	4251	6426	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169551671G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.248C>T	1.37:g.169551671G>A	ENSP00000356771:p.Ser83Leu					F5_uc010plr.1_Intron	p.S83L	NM_000130	NP_000121	P12259	FA5_HUMAN			2	393	-	all_hematologic(923;0.208)		83			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.248C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088465	0.55968	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98649	-5.05;-5.05	5.63	5.63	0.86233	Cupredoxin (2);	0.145240	0.48767	D	0.000162	D	0.94918	0.8357	N	0.02412	-0.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92648	0.6130	10	0.02654	T	1	-16.0455	15.196	0.73088	0.0:0.0:1.0:0.0	.	83	P12259	FA5_HUMAN	L	83	ENSP00000356771:S83L;ENSP00000356770:S83L	ENSP00000356770:S83L	S	-	2	0	F5	167818295	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.877000	0.63086	2.659000	0.90383	0.650000	0.86243	TCA		0.264	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		8	16	0	0	0	0.00308	0	8	16		
PAPPA2	60676	broad.mit.edu	37	1	176564245	176564245	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:176564245C>T	ENST00000367662.3	+	3	2669	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T502I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	502	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGGGCAAACAGTCTGTGAC	0.522																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1504-1506)ACA>ATA		pappalysin 2 isoform 1							58.0	58.0	58.0					1																	176564245		1950	4162	6112	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564245C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1505C>T	1.37:g.176564245C>T	ENSP00000356634:p.Thr502Ile					PAPPA2_uc001gky.1_Missense_Mutation_p.T502I|PAPPA2_uc009www.2_RNA	p.T502I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2669	+			502			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1505C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474139	0.43942	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.60299	0.2;0.2	5.32	4.41	0.53225	.	0.106321	0.64402	D	0.000006	T	0.76485	0.3994	M	0.83384	2.64	0.51233	D	0.999917	D;D	0.76494	0.999;0.996	D;P	0.72625	0.978;0.859	T	0.80538	-0.1338	10	0.87932	D	0	-9.4469	13.6587	0.62354	0.0:0.9248:0.0:0.0752	.	502;502	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	I	502	ENSP00000356634:T502I;ENSP00000356633:T502I	ENSP00000356633:T502I	T	+	2	0	PAPPA2	174830868	1.000000	0.71417	0.075000	0.20258	0.001000	0.01503	7.679000	0.84048	1.245000	0.43885	-0.145000	0.13849	ACA		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				4	39	0	0	0	0.014758	0	4	39		
UCHL5	51377	broad.mit.edu	37	1	193020927	193020927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:193020927C>A	ENST00000367455.4	-	2	332	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Nonsense_Mutation_p.E33*|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367451.4_Nonsense_Mutation_p.E33*|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367449.1_Nonsense_Mutation_p.E33*|UCHL5_ENST00000367448.1_Nonsense_Mutation_p.E33*	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	33					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CATATTTCTTCTACTTGGGCT	0.249																																						uc001gsm.2		NaN																	0				lung(2)|ovary(1)	3						c.(97-99)GAA>TAA		ubiquitin carboxyl-terminal hydrolase L5							44.0	49.0	47.0					1																	193020927		2189	4273	6462	SO:0001587	stop_gained	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193020927C>A		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.97G>T	1.37:g.193020927C>A	ENSP00000356425:p.Glu33*					UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Nonsense_Mutation_p.E33*|UCHL5_uc001gsq.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_5'UTR	p.E33*	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			2	228	-			33					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Nonsense_Mutation	SNP	ENST00000367455.4	37	c.97G>T	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971327	0.74246	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683;ENST00000417752	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.8722	18.0729	0.89417	0.0:1.0:0.0:0.0	.	.	.	.	X	33;33;45;33;33;33;23;24;164	.	ENSP00000356418:E33X	E	-	1	0	UCHL5	191287550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.732000	0.74790	2.642000	0.89623	0.650000	0.86243	GAA		0.249	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3		NM_015984		23	101	1	0	3.90053e-15	0.012213	4.36431e-15	23	101		
CRB1	23418	broad.mit.edu	37	1	197297651	197297651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:197297651C>T	ENST00000367400.3	+	2	305	c.170C>T	c.(169-171)tCa>tTa	p.S57L	CRB1_ENST00000367399.2_Missense_Mutation_p.S57L|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S57L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	57	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTTCTTGTTCAGACACAGCC	0.403																																						uc001gtz.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(169-171)TCA>TTA		crumbs homolog 1 precursor							67.0	68.0	67.0					1																	197297651		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297651C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.170C>T	1.37:g.197297651C>T	ENSP00000356370:p.Ser57Leu					CRB1_uc010poz.1_5'UTR|CRB1_uc001gty.1_Missense_Mutation_p.S57L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S57L|CRB1_uc010ppb.1_Missense_Mutation_p.S57L	p.S57L	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	305	+			57			Extracellular (Potential).|EGF-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.170C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	1.033	-0.681214	0.03353	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91464	-2.85;-1.79;-2.29	5.43	2.52	0.30459	Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.77778	0.4181	N	0.11560	0.145	0.09310	N	0.999999	B;B;B;B	0.19200	0.034;0.01;0.022;0.005	B;B;B;B	0.14578	0.01;0.006;0.011;0.006	T	0.62765	-0.6785	9	0.22706	T	0.39	.	5.2034	0.15277	0.1314:0.5753:0.0:0.2932	.	57;57;57;82	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	L	57	ENSP00000438091:S57L;ENSP00000356370:S57L;ENSP00000356369:S57L	ENSP00000356369:S57L	S	+	2	0	CRB1	195564274	0.048000	0.20356	0.023000	0.16930	0.076000	0.17211	1.295000	0.33377	0.337000	0.23665	0.655000	0.94253	TCA		0.403	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		9	44	0	0	0	0.004482	0	9	44		
ZNF281	23528	broad.mit.edu	37	1	200377122	200377122	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:200377122C>T	ENST00000294740.3	-	2	1836	c.1712G>A	c.(1711-1713)gGt>gAt	p.G571D	ZNF281_ENST00000367352.3_Missense_Mutation_p.G535D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G571D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	571					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AACACTGACACCTGCAGACTG	0.413																																						uc001gve.2		NaN																	0				ovary(1)|breast(1)	2						c.(1711-1713)GGT>GAT		zinc finger protein 281							72.0	65.0	67.0					1																	200377122		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377122C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1712G>A	1.37:g.200377122C>T	ENSP00000294740:p.Gly571Asp					ZNF281_uc001gvf.1_Missense_Mutation_p.G571D|ZNF281_uc001gvg.1_Missense_Mutation_p.G535D	p.G571D	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1819	-			571					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1712G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777376	0.31411	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.41758	0.99;0.99;0.99	5.49	5.49	0.81192	.	0.168600	0.52532	D	0.000071	T	0.48572	0.1507	L	0.44542	1.39	0.38406	D	0.945805	D;D	0.67145	0.996;0.989	P;P	0.53649	0.731;0.648	T	0.54057	-0.8350	10	0.72032	D	0.01	-6.9122	14.2517	0.66023	0.149:0.851:0.0:0.0	.	535;571	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	571;571;535;276	ENSP00000294740:G571D;ENSP00000356322:G571D;ENSP00000356321:G535D	ENSP00000294740:G571D	G	-	2	0	ZNF281	198643745	1.000000	0.71417	0.951000	0.38953	0.976000	0.68499	3.849000	0.55910	2.565000	0.86533	0.655000	0.94253	GGT		0.413	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		NM_012482		5	18	0	0	0	0.02938	0	5	18		
MYOG	4656	broad.mit.edu	37	1	203054922	203054922	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203054922C>A	ENST00000241651.4	-	1	242	c.168G>T	c.(166-168)ggG>ggT	p.G56G		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	56					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GCTCGGGGGTCCCCAGCCCCT	0.697																																						uc001gzd.2		NaN																	0				skin(2)	2						c.(166-168)GGG>GGT		myogenin							43.0	49.0	47.0					1																	203054922		2203	4300	6503	SO:0001819	synonymous_variant	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054922C>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.168G>T	1.37:g.203054922C>A							p.G56G	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	456	-			56					Q53XW6	Silent	SNP	ENST00000241651.4	37	c.168G>T	CCDS1433.1																																																																																				0.697	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1		NM_002479		17	48	1	0	1.28384e-07	0.012319	1.37769e-07	17	48		
OPTC	26254	broad.mit.edu	37	1	203465269	203465269	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203465269C>T	ENST00000367222.2	+	2	252	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	46					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTTCTGCCTCTGCGGAATGA	0.542																																						uc001gzu.1		NaN																	0					0						c.(136-138)CTG>TTG		opticin precursor							138.0	122.0	128.0					1																	203465269		2203	4300	6503	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203465269C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.136C>T	1.37:g.203465269C>T							p.L46L	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	252	+			46					Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.136C>T	CCDS1439.1																																																																																				0.542	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359		16	51	0	0	0	0.007413	0	16	51		
NFASC	23114	broad.mit.edu	37	1	204985457	204985457	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:204985457G>A	ENST00000401399.1	+	29	3712	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	NFASC_ENST00000367171.4_Silent_p.L1263L|NFASC_ENST00000338515.6_Silent_p.L1188L|NFASC_ENST00000360049.4_Silent_p.L1100L|NFASC_ENST00000539706.1_Silent_p.L1105L|NFASC_ENST00000404907.1_Silent_p.L1105L|NFASC_ENST00000404076.1_Silent_p.L1088L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000513543.1_Silent_p.L1100L|NFASC_ENST00000367169.4_Silent_p.L1002L|NFASC_ENST00000367172.4_Silent_p.L1278L|NFASC_ENST00000367170.4_Silent_p.L1199L|NFASC_ENST00000338586.6_Silent_p.L1155L|NFASC_ENST00000339876.6_Silent_p.L1171L			O94856	NFASC_HUMAN	neurofascin	1278	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAAGCCCCTGCAGGGCAGTC	0.592																																						uc001hbj.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3511-3513)CTG>CTA		neurofascin isoform 1 precursor							143.0	142.0	143.0					1																	204985457		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985457G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3513G>A	1.37:g.204985457G>A						NFASC_uc010pra.1_Silent_p.L1105L|NFASC_uc001hbi.2_Silent_p.L1100L|NFASC_uc010prb.1_Silent_p.L1120L|NFASC_uc010prc.1_Silent_p.L671L|NFASC_uc001hbl.1_Silent_p.L247L|NFASC_uc001hbm.1_Silent_p.L194L|NFASC_uc009xbh.1_Missense_Mutation_p.C26Y|NFASC_uc001hbo.1_Missense_Mutation_p.C47Y	p.L1171L	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		30	3841	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1278			Cytoplasmic (Potential).		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.3513G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.137|9.137	1.012825|1.012825	0.19277|0.19277	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367173;ENST00000425360	.|.	.|.	.|.	5.45|5.45	1.08|1.08	0.20341|0.20341	.|.	.|.	.|.	.|.	.|.	T|T	0.52741|0.52741	0.1753|0.1753	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44375|0.44375	-0.9332|-0.9332	4|4	.|.	.|.	.|.	.|.	6.5934|6.5934	0.22659|0.22659	0.0677:0.2366:0.5736:0.1221|0.0677:0.2366:0.5736:0.1221	.|.	.|.	.|.	.|.	T|Y	218|972;229	.|.	.|.	A|C	+|+	1|2	0|0	NFASC|NFASC	203252080|203252080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.511000|0.511000	0.22739|0.22739	0.644000|0.644000	0.30656|0.30656	-0.257000|-0.257000	0.10917|0.10917	GCA|TGC		0.592	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388		54	156	0	0	0	0.01441	0	54	156		
FAIM3	9214	broad.mit.edu	37	1	207087417	207087417	+	Silent	SNP	G	G	A	rs201853972		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207087417G>A	ENST00000367091.3	-	2	203	c.60C>T	c.(58-60)ctC>ctT	p.L20L	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Silent_p.L20L|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	20					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTACTTCTGGGAGGATCCTCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17950	0.001		0.0	False		,,,				2504	0.0					uc001hey.2		NaN																	0				central_nervous_system(1)	1						c.(58-60)CTC>CTT		Fas apoptotic inhibitory molecule 3 isoform a							76.0	69.0	71.0					1																	207087417		2203	4300	6503	SO:0001819	synonymous_variant	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087417G>A	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.60C>T	1.37:g.207087417G>A						FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_5'UTR|FAIM3_uc010psb.1_Silent_p.L20L	p.L20L	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	239	-	Breast(84;0.201)		20			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	c.60C>T	CCDS1473.1																																																																																				0.552	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1		NM_005449		19	86	0	0	0	0.008871	0	19	86		
CR2	1380	broad.mit.edu	37	1	207640030	207640030	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207640030G>T	ENST00000367058.3	+	2	407	c.218G>T	c.(217-219)gGa>gTa	p.G73V	CR2_ENST00000458541.2_Missense_Mutation_p.G73V|CR2_ENST00000367059.3_Missense_Mutation_p.G73V|CR2_ENST00000367057.3_Missense_Mutation_p.G73V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	73	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAAGTGGATGGAACCTGGGAT	0.408																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(217-219)GGA>GTA		complement component (3d/Epstein Barr virus)							96.0	97.0	96.0					1																	207640030		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640030G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.218G>T	1.37:g.207640030G>T	ENSP00000356025:p.Gly73Val					CR2_uc001hfv.2_Missense_Mutation_p.G73V|CR2_uc009xch.2_Missense_Mutation_p.G73V	p.G73V	NM_001877	NP_001868	P20023	CR2_HUMAN			2	312	+			73			Sushi 1.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.218G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127978	0.37533	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.0	-0.512	0.11966	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.85066	0.5612	M	0.84773	2.715	0.19300	N	0.999978	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.75484	0.971;0.986;0.972	T	0.80204	-0.1479	9	0.66056	D	0.02	.	17.771	0.88493	0.0:0.7497:0.2503:0.0	.	73;73;73	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	V	73	ENSP00000356025:G73V;ENSP00000356024:G73V;ENSP00000356026:G73V;ENSP00000404222:G73V	ENSP00000356024:G73V	G	+	2	0	CR2	205706653	0.159000	0.22864	0.000000	0.03702	0.008000	0.06430	0.369000	0.20416	-0.238000	0.09724	-0.165000	0.13383	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		14	60	1	0	3.27435e-08	0.020292	3.5448e-08	14	60		
MARK1	4139	broad.mit.edu	37	1	220792050	220792050	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:220792050C>A	ENST00000366917.4	+	9	1128	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	MARK1_ENST00000366918.4_Missense_Mutation_p.L266M|MARK1_ENST00000402574.1_Missense_Mutation_p.L153M					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAATCTTCTGAAGAAATT	0.333																																						uc001hmn.3		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(862-864)CTG>ATG		MAP/microtubule affinity-regulating kinase 1							78.0	81.0	80.0					1																	220792050		2202	4300	6502	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220792050C>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.862C>A	1.37:g.220792050C>A	ENSP00000355884:p.Leu288Met					MARK1_uc009xdw.2_Missense_Mutation_p.L288M|MARK1_uc010pun.1_Missense_Mutation_p.L288M|MARK1_uc001hmm.3_Missense_Mutation_p.L266M	p.L288M	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1459	+			288			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.862C>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688845	0.68271	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.69175	-0.38;-0.38;-0.38	5.85	4.95	0.65309	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	0.64402	D	0.000002	T	0.78780	0.4337	L	0.56396	1.775	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.997;0.997	T	0.80037	-0.1550	10	0.54805	T	0.06	.	15.0063	0.71516	0.0:0.9319:0.0:0.0681	.	288;153;288;266	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	M	153;266;288	ENSP00000386017:L153M;ENSP00000355885:L266M;ENSP00000355884:L288M	ENSP00000355884:L288M	L	+	1	2	MARK1	218858673	1.000000	0.71417	0.196000	0.23383	0.535000	0.34838	4.920000	0.63390	1.486000	0.48398	0.655000	0.94253	CTG		0.333	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1				10	52	1	0	0.00010058	0.013537	0.000103688	10	52		
TTC13	79573	broad.mit.edu	37	1	231076227	231076227	+	Missense_Mutation	SNP	G	G	A	rs577146647	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:231076227G>A	ENST00000366661.4	-	7	755	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	TTC13_ENST00000414259.1_Missense_Mutation_p.R197W|TTC13_ENST00000366662.4_Missense_Mutation_p.R197W	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	250								p.R250W(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGTACAGCCGTGCTGAGGGC	0.423													G|||	3	0.000599042	0.0	0.0029	5008	,	,		19921	0.0		0.0	False		,,,				2504	0.001					uc001huf.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(748-750)CGG>TGG		tetratricopeptide repeat domain 13 isoform a							113.0	104.0	107.0					1																	231076227		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231076227G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.748C>T	1.37:g.231076227G>A	ENSP00000355621:p.Arg250Trp					TTC13_uc009xfi.2_Missense_Mutation_p.R197W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R197W|TTC13_uc009xfk.1_Missense_Mutation_p.R140W	p.R250W	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	7	779	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	250			TPR 3.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.748C>T	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400325	0.83120	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T;T	0.74315	0.22;0.24;0.24;-0.83	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.956;0.998;0.913;0.983	T	0.82853	-0.0252	10	0.72032	D	0.01	-1.4026	13.3136	0.60394	0.0:0.0:0.7216:0.2784	.	175;197;197;250	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	W	250;197;197;140	ENSP00000355621:R250W;ENSP00000355622:R197W;ENSP00000416631:R197W;ENSP00000428622:R140W	ENSP00000355621:R250W	R	-	1	2	TTC13	229142850	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.310000	0.59141	2.520000	0.84964	0.655000	0.94253	CGG		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525		12	52	0	0	0	0.020292	0	12	52		
KCNK1	3775	broad.mit.edu	37	1	233807173	233807173	+	Missense_Mutation	SNP	C	C	T	rs149408317	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:233807173C>T	ENST00000366621.3	+	3	1076	c.908C>T	c.(907-909)tCg>tTg	p.S303L	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.S187L	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	303					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TCCTTCTCCTCGATCACAGAC	0.493																																						uc010pxo.1		NaN																	0				central_nervous_system(1)	1						c.(907-909)TCG>TTG		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)	C	LEU/SER	0,4406		0,0,2203	80.0	74.0	76.0		908	5.8	1.0	1	dbSNP_134	76	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KCNK1	NM_002245.3	145	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	303/337	233807173	4,13002	2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233807173C>T	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.908C>T	1.37:g.233807173C>T	ENSP00000355580:p.Ser303Leu					KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	p.S303L	NM_002245	NP_002236	O00180	KCNK1_HUMAN			3	1076	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	303			Cytoplasmic (Potential).		Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.908C>T	CCDS1599.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	34	5.294145	0.95546	0.0	4.65E-4	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.11169	3.19;2.86;2.8	5.84	5.84	0.93424	.	0.164922	0.56097	D	0.000037	T	0.10594	0.0259	L	0.34521	1.04	0.80722	D	1	P	0.52316	0.952	B	0.41174	0.349	T	0.22138	-1.0225	10	0.20519	T	0.43	.	18.3357	0.90287	0.0:1.0:0.0:0.0	.	303	O00180	KCNK1_HUMAN	L	303;187;221	ENSP00000355580:S303L;ENSP00000355579:S187L;ENSP00000409626:S221L	ENSP00000355579:S187L	S	+	2	0	KCNK1	231873796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.911000	0.75746	2.760000	0.94817	0.655000	0.94253	TCG		0.493	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1		NM_002245		15	31	0	0	0	0.024245	0	15	31		
CEP170	9859	broad.mit.edu	37	1	243349256	243349256	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:243349256G>A	ENST00000366542.1	-	10	1442	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	464						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGACTCCCTGAACTTCTTAA	0.418																																						uc001hzs.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1390-1392)TCA>TTA		centrosomal protein 170kDa isoform alpha							92.0	83.0	86.0					1																	243349256		1851	4094	5945	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243349256G>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1391C>T	1.37:g.243349256G>A	ENSP00000355500:p.Ser464Leu					CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	p.S464L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		10	1799	-	all_neural(11;0.101)	all_cancers(173;0.003)	464					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1391C>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779081|3.779081	0.70107|0.70107	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000424081	.|T	.|0.51325	.|0.71	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.289542	.|0.33732	.|N	.|0.004612	.|T	.|0.60689	.|0.2288	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	.|T	.|0.52132	.|-0.8616	.|10	.|0.10902	.|T	.|0.67	-10.0648|-10.0648	18.9535|18.9535	0.92649|0.92649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|464	.|Q5SW79	.|CE170_HUMAN	X|L	428|464;362	.|ENSP00000355500:S464L	.|ENSP00000355500:S464L	Q|S	-|-	1|2	0|0	CEP170|CEP170	241415879|241415879	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.430000|7.430000	0.80321|0.80321	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	CAG|TCA		0.418	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812		4	43	0	0	0	0.009096	0	4	43		
KIF26B	55083	broad.mit.edu	37	1	245582962	245582962	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245582962G>A	ENST00000407071.2	+	4	1521	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	361					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAAGCCTTCCGCCTGCAGTGT	0.572																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(1081-1083)GCC>ACC		kinesin family member 26B							70.0	75.0	73.0					1																	245582962		1986	4161	6147	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245582962G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1081G>A	1.37:g.245582962G>A	ENSP00000385545:p.Ala361Thr					KIF26B_uc010pyq.1_Missense_Mutation_p.A361T	p.A361T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		4	1521	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		361					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1081G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184729	0.21870	.	.	ENSG00000162849	ENST00000407071	T	0.77358	-1.09	5.56	4.59	0.56863	.	.	.	.	.	T	0.52338	0.1728	N	0.19112	0.55	0.54753	D	0.99998	P	0.45672	0.864	B	0.29077	0.098	T	0.55982	-0.8054	9	0.42905	T	0.14	.	3.8263	0.08855	0.081:0.1272:0.5006:0.2912	.	361	Q2KJY2	KI26B_HUMAN	T	361	ENSP00000385545:A361T	ENSP00000385545:A361T	A	+	1	0	KIF26B	243649585	0.139000	0.22563	0.957000	0.39632	0.335000	0.28730	0.337000	0.19841	2.594000	0.87642	0.643000	0.83706	GCC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		15	56	0	0	0	0.007413	0	15	56		
KIF26B	55083	broad.mit.edu	37	1	245865906	245865906	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245865906T>C	ENST00000407071.2	+	15	6765	c.6325T>C	c.(6325-6327)Tag>Cag	p.*2109Q	KIF26B_ENST00000366518.4_Nonstop_Mutation_p.*1728Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	0					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGGCGCCGGTAGATGAGCCA	0.597																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(6325-6327)TAG>CAG		kinesin family member 26B							72.0	74.0	73.0					1																	245865906		1987	4170	6157	SO:0001578	stop_lost	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245865906T>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6325T>C	1.37:g.245865906T>C	ENSP00000385545:p.*2109Glnext*34						p.*2109Q	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		15	6765	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2109					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Nonstop_Mutation	SNP	ENST00000407071.2	37	c.6325T>C	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871139	0.72065	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2513	0.82489	0.0:0.0:0.0:1.0	.	.	.	.	Q	2109;1728;1725	.	.	X	+	1	0	KIF26B	243932529	1.000000	0.71417	0.110000	0.21437	0.928000	0.56348	2.879000	0.48522	2.239000	0.73571	0.528000	0.53228	TAG		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		19	55	0	0	0	0.037714	0	19	55		
OR2W3	343171	broad.mit.edu	37	1	248059565	248059565	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:248059565T>G	ENST00000360358.3	+	1	677	c.677T>G	c.(676-678)tTa>tGa	p.L226*	OR2W3_ENST00000537741.1_Nonsense_Mutation_p.L226*	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGCTGTGTTACAAATTCGG	0.532																																						uc001idp.1		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(676-678)TTA>TGA		olfactory receptor, family 2, subfamily W,							196.0	177.0	184.0					1																	248059565		2203	4300	6503	SO:0001587	stop_gained	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059565T>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.677T>G	1.37:g.248059565T>G	ENSP00000353516:p.Leu226*					OR2W3_uc010pzb.1_Nonsense_Mutation_p.L226*	p.L226*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	946	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226			Cytoplasmic (Potential).		Q6IF06|Q8NG86	Nonsense_Mutation	SNP	ENST00000360358.3	37	c.677T>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155841	0.78114	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	.	.	.	5.29	5.29	0.74685	.	0.672928	0.13052	N	0.417615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0625	0.71967	0.0:0.0:0.0:1.0	.	.	.	.	X	226	.	ENSP00000353516:L226X	L	+	2	0	OR2W3	246126188	0.124000	0.22315	0.406000	0.26421	0.138000	0.21146	2.629000	0.46485	2.227000	0.72691	0.496000	0.49642	TTA		0.532	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1		NM_001001957		35	108	0	0	0	0.011902	0	35	108		
ADARB2	105	broad.mit.edu	37	10	1405318	1405318	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:1405318G>A	ENST00000381312.1	-	3	1307	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	328	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGACCCCGGGCCAGCTTC	0.726																																						uc009xhq.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(982-984)CGG>TGG		adenosine deaminase, RNA-specific, B2							6.0	7.0	7.0					10																	1405318		2056	4109	6165	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405318G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.982C>T	10.37:g.1405318G>A	ENSP00000370713:p.Arg328Trp						p.R328W	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1356	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	328			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.982C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028117	0.75390	.	.	ENSG00000185736	ENST00000381312	T	0.77877	-1.13	5.24	4.11	0.48088	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.146725	0.64402	D	0.000010	D	0.82870	0.5131	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	D	0.83488	0.0068	10	0.87932	D	0	-30.4317	12.1592	0.54096	0.0:0.0:0.1499:0.8501	.	328	Q9NS39	RED2_HUMAN	W	328	ENSP00000370713:R328W	ENSP00000370713:R328W	R	-	1	2	ADARB2	1395318	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.181000	0.71988	0.845000	0.35118	-0.397000	0.06425	CGG		0.726	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702		5	9	0	0	0	0.00308	0	5	9		
SVIL	6840	broad.mit.edu	37	10	29840096	29840096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840096G>A	ENST00000355867.4	-	6	1009	c.257C>T	c.(256-258)tCa>tTa	p.S86L	SVIL_ENST00000375398.2_Missense_Mutation_p.S86L|SVIL_ENST00000375400.3_Missense_Mutation_p.S86L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	86	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCATAGGGTGAGTCACCGTG	0.493																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(256-258)TCA>TTA		supervillin isoform 2							131.0	112.0	118.0					10																	29840096		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29840096G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.257C>T	10.37:g.29840096G>A	ENSP00000348128:p.Ser86Leu					SVIL_uc001iuu.1_Missense_Mutation_p.S86L|SVIL_uc009xld.1_Missense_Mutation_p.S86L	p.S86L	NM_021738	NP_068506	O95425	SVIL_HUMAN			6	1010	-		Breast(68;0.103)	86			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.257C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934744	0.34189	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.53423	0.62;0.62;0.62	4.19	4.19	0.49359	.	1.561530	0.03581	N	0.230098	T	0.52549	0.1741	L	0.53249	1.67	0.80722	D	1	B;B	0.31548	0.328;0.265	B;B	0.33620	0.124;0.167	T	0.27502	-1.0072	9	.	.	.	0.1591	16.7387	0.85454	0.0:0.0:1.0:0.0	.	86;86	O95425-2;O95425	.;SVIL_HUMAN	L	86	ENSP00000364549:S86L;ENSP00000364547:S86L;ENSP00000348128:S86L	.	S	-	2	0	SVIL	29880102	0.939000	0.31865	0.003000	0.11579	0.005000	0.04900	6.041000	0.70988	2.162000	0.67917	0.591000	0.81541	TCA		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				16	95	0	0	0	0.007413	0	16	95		
SVIL	6840	broad.mit.edu	37	10	29840154	29840154	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840154G>T	ENST00000355867.4	-	6	951	c.199C>A	c.(199-201)Cta>Ata	p.L67I	SVIL_ENST00000375398.2_Missense_Mutation_p.L67I|SVIL_ENST00000375400.3_Missense_Mutation_p.L67I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	67	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTTTTCTAGAGAAGAATCA	0.463																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(199-201)CTA>ATA		supervillin isoform 2							63.0	53.0	57.0					10																	29840154		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29840154G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.199C>A	10.37:g.29840154G>T	ENSP00000348128:p.Leu67Ile					SVIL_uc001iuu.1_Missense_Mutation_p.L67I|SVIL_uc009xld.1_Missense_Mutation_p.L67I	p.L67I	NM_021738	NP_068506	O95425	SVIL_HUMAN			6	952	-		Breast(68;0.103)	67			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.199C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	3.644	-0.072977	0.07228	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.42513	0.97;0.97;0.97	5.41	-10.8	0.00216	.	1.710270	0.02464	N	0.086827	T	0.20740	0.0499	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.003;0.007	T	0.06499	-1.0823	9	.	.	.	1.7047	4.9177	0.13854	0.0936:0.3902:0.3263:0.1899	.	67;67	O95425-2;O95425	.;SVIL_HUMAN	I	67	ENSP00000364549:L67I;ENSP00000364547:L67I;ENSP00000348128:L67I	.	L	-	1	2	SVIL	29880160	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	-1.283000	0.02796	-2.735000	0.00382	-1.054000	0.02325	CTA		0.463	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				12	47	1	0	4.7546e-09	0.028581	5.20878e-09	12	47		
LRRTM3	347731	broad.mit.edu	37	10	68687354	68687354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:68687354G>C	ENST00000361320.4	+	2	1258	c.680G>C	c.(679-681)aGg>aCg	p.R227T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	227					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTTTTCCAAGGTTGGTCAGC	0.453																																						uc001jmz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(679-681)AGG>ACG		leucine rich repeat transmembrane neuronal 3							90.0	92.0	92.0					10																	68687354		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687354G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.680G>C	10.37:g.68687354G>C	ENSP00000355187:p.Arg227Thr					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R227T	p.R227T	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1230	+			227			Extracellular (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.680G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212900	0.58452	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04502	3.61	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.11665	0.0284	N	0.16233	0.39	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.986	T	0.30179	-0.9987	10	0.42905	T	0.14	.	18.5173	0.90939	0.0:0.0:1.0:0.0	.	227;227	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	T	227	ENSP00000355187:R227T	ENSP00000355187:R227T	R	+	2	0	LRRTM3	68357360	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.869000	0.99810	2.654000	0.90174	0.650000	0.86243	AGG		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		NM_178011		20	107	0	0	0	0.024334	0	20	107		
TSPAN15	23555	broad.mit.edu	37	10	71265936	71265936	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71265936C>G	ENST00000373290.2	+	7	797	c.675C>G	c.(673-675)atC>atG	p.I225M	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	225					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CCGTGATCATCTGGTTCATGG	0.597																																						uc001jpo.1		NaN																	0					0						c.(673-675)ATC>ATG		transmembrane 4 superfamily member 15							144.0	112.0	123.0					10																	71265936		2203	4300	6503	SO:0001583	missense	23555					integral to plasma membrane|membrane fraction		g.chr10:71265936C>G	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.675C>G	10.37:g.71265936C>G	ENSP00000362387:p.Ile225Met						p.I225M	NM_012339	NP_036471	O95858	TSN15_HUMAN			7	800	+			225			Extracellular (Potential).		Q6UW79	Missense_Mutation	SNP	ENST00000373290.2	37	c.675C>G	CCDS7294.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139641	0.37728	.	.	ENSG00000099282	ENST00000373290;ENST00000452130	D;D	0.86865	-2.18;-2.18	5.54	3.61	0.41365	Tetraspanin, EC2 domain (1);	0.241299	0.48767	N	0.000180	T	0.81498	0.4835	L	0.52573	1.65	0.52099	D	0.999946	B	0.14805	0.011	B	0.22386	0.039	T	0.73924	-0.3829	10	0.46703	T	0.11	-20.6021	5.739	0.18083	0.1457:0.6368:0.1407:0.0768	.	225	O95858	TSN15_HUMAN	M	225;134	ENSP00000362387:I225M;ENSP00000404528:I134M	ENSP00000362387:I225M	I	+	3	3	TSPAN15	70935942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.924000	0.28777	0.634000	0.30469	0.591000	0.81541	ATC		0.597	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1		NM_012339		102	76	0	0	0	0.01441	0	102	76		
COL13A1	1305	broad.mit.edu	37	10	71562459	71562459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71562459C>T	ENST00000398978.3	+	1	772	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	COL13A1_ENST00000354547.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398964.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000356340.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398971.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398968.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000520267.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000522165.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398973.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398972.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398969.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000520133.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398974.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000517713.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000357811.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398966.3_Nonsense_Mutation_p.Q94*	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ACGAGTCAATCAACTGCTGGA	0.662																																						uc001jpr.1		NaN																	0				ovary(1)	1						c.(280-282)CAA>TAA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						169.0	174.0	173.0					10																	71562459		2004	4177	6181	SO:0001587	stop_gained	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71562459C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.280C>T	10.37:g.71562459C>T	ENSP00000381949:p.Gln94*					COL13A1_uc001jqj.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jps.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpt.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpu.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpv.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpx.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpw.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpy.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpz.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqa.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqc.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqb.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jql.2_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqd.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqe.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqf.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqg.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqh.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqi.1_Nonsense_Mutation_p.Q94*	p.Q94*	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			1	816	+			94			Extracellular (Potential).|Nonhelical region 1 (NC1).			Nonsense_Mutation	SNP	ENST00000398978.3	37	c.280C>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	38	6.993329	0.97987	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	.	.	.	5.36	4.44	0.53790	.	0.190725	0.25964	N	0.027174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.8935	14.673	0.68958	0.146:0.854:0.0:0.0	.	.	.	.	X	94	.	ENSP00000346553:Q94X	Q	+	1	0	COL13A1	71232465	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.331000	0.52075	1.242000	0.43836	0.456000	0.33151	CAA		0.662	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1		NM_005203		32	404	0	0	0	0.015359	0	32	404		
KCNMA1	3778	broad.mit.edu	37	10	78729810	78729810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:78729810G>A	ENST00000286628.8	-	20	2281	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	KCNMA1_ENST00000354353.5_Missense_Mutation_p.P764L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P703L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P703L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P761L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P765L|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P703L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P703L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	761					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TAGTGTTGACGGCTGCTCATC	0.483																																						uc001jxn.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(2281-2283)CCG>CTG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						205.0	180.0	188.0					10																	78729810		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78729810G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2282C>T	10.37:g.78729810G>A	ENSP00000286628:p.Pro761Leu					KCNMA1_uc001jxj.2_Missense_Mutation_p.P707L|KCNMA1_uc001jxk.1_Missense_Mutation_p.P379L|KCNMA1_uc009xrt.1_Missense_Mutation_p.P552L|KCNMA1_uc001jxl.1_Missense_Mutation_p.P386L|KCNMA1_uc001jxo.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxm.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxq.2_Missense_Mutation_p.P706L	p.P761L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		20	2459	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		761			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2282C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.433373|3.433373	0.62844|0.62844	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.84370|.	-1.76;-1.8;-1.7;-1.7;-1.79;-1.76;-1.7;-1.71;-1.84|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.053068|.	0.85682|.	D|.	0.000000|.	T|T	0.69726|0.69726	0.3143|0.3143	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	P;P;B;B;B;B;B;P|.	0.47604|.	0.898;0.693;0.287;0.182;0.012;0.308;0.043;0.482|.	B;B;B;B;B;B;B;B|.	0.42738|.	0.396;0.109;0.064;0.029;0.011;0.028;0.014;0.048|.	T|T	0.64643|0.64643	-0.6359|-0.6359	10|5	0.59425|.	D|.	0.04|.	-12.9149|-12.9149	19.7589|19.7589	0.96306|0.96306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	732;706;703;761;703;514;764;703|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|C	703;640;696;735;698;703;703;735;765;764;703;514|654	ENSP00000361517:P703L;ENSP00000361485:P640L;ENSP00000361514:P696L;ENSP00000396608:P735L;ENSP00000361520:P703L;ENSP00000286627:P703L;ENSP00000385552:P765L;ENSP00000346321:P764L;ENSP00000385806:P703L|.	ENSP00000286627:P703L|.	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78399816|78399816	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	7.315000|7.315000	0.78998|0.78998	2.662000|2.662000	0.90505|0.90505	0.557000|0.557000	0.71058|0.71058	CCG|CGT		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		4	67	0	0	0	0.014758	0	4	67		
BTAF1	9044	broad.mit.edu	37	10	93749199	93749199	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:93749199C>A	ENST00000265990.6	+	20	3024	c.2716C>A	c.(2716-2718)Cag>Aag	p.Q906K		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	906					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAACTCCTTCAGCAGTGCAC	0.378																																						uc001khr.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2716-2718)CAG>AAG		BTAF1 RNA polymerase II, B-TFIID transcription							76.0	80.0	79.0					10																	93749199		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93749199C>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2716C>A	10.37:g.93749199C>A	ENSP00000265990:p.Gln906Lys					BTAF1_uc001khs.1_Missense_Mutation_p.Q576K|BTAF1_uc001kht.1_Missense_Mutation_p.Q344K	p.Q906K	NM_003972	NP_003963	O14981	BTAF1_HUMAN			20	2814	+		Colorectal(252;0.0846)	906			HEAT 6.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2716C>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418736	0.62622	.	.	ENSG00000095564	ENST00000265990	T	0.63417	-0.04	5.25	5.25	0.73442	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.132734	0.56097	D	0.000032	T	0.59432	0.2193	L	0.57536	1.79	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.012	T	0.56492	-0.7970	10	0.14252	T	0.57	-19.86	18.8489	0.92218	0.0:1.0:0.0:0.0	.	906;906	Q2M1V9;O14981	.;BTAF1_HUMAN	K	906	ENSP00000265990:Q906K	ENSP00000265990:Q906K	Q	+	1	0	BTAF1	93739179	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.763000	0.85283	2.462000	0.83206	0.591000	0.81541	CAG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		9	41	1	0	1.58986e-06	0.008291	1.67186e-06	9	41		
C10orf76	79591	broad.mit.edu	37	10	103783474	103783474	+	Silent	SNP	G	G	A	rs368367618		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:103783474G>A	ENST00000370033.4	-	7	659	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	180						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTACATACTCGAGAATAGTGT	0.383																																						uc009xwy.1		NaN																	0					0						c.(538-540)CTC>CTT		hypothetical protein LOC79591		G		0,3714		0,0,1857	228.0	207.0	213.0		540	1.5	1.0	10		213	4,8228		0,4,4112	no	coding-synonymous	C10orf76	NM_024541.2		0,4,5969	AA,AG,GG		0.0486,0.0,0.0335		180/690	103783474	4,11942	1857	4116	5973	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103783474G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.540C>T	10.37:g.103783474G>A							p.L180L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	7	642	-		Colorectal(252;0.123)	180					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.540C>T	CCDS41563.1																																																																																				0.383	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1		NM_024541		26	149	0	0	0	0.012213	0	26	149		
SORCS3	22986	broad.mit.edu	37	10	106737176	106737176	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:106737176C>T	ENST00000369701.3	+	4	1106	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	293					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTATCGGCTCACCTTCTATA	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(877-879)CTC>CTT		VPS10 domain receptor protein SORCS 3 precursor							125.0	107.0	113.0					10																	106737176		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737176C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.879C>T	10.37:g.106737176C>T							p.L293L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1106	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	293			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.879C>T	CCDS7558.1																																																																																				0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		17	42	0	0	0	0.007413	0	17	42		
NRIP3	56675	broad.mit.edu	37	11	9009806	9009807	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:9009806_9009807CC>AA	ENST00000309166.3	-	2	310_311	c.197_198GG>TT	c.(196-198)aGG>aTT	p.R66I	NRIP3_ENST00000531090.1_Missense_Mutation_p.R66I	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	66							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCATGAGGCGCCTCTGCAGAAT	0.51																																						uc001mhg.2		NaN																	0					0						c.(196-198)AGG>ATT		nuclear receptor interacting protein 3																																				SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009806_9009807CC>AA	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.197_198delinsAA	11.37:g.9009806_9009807delinsAA	ENSP00000310205:p.Arg66Ile					NRIP3_uc010rbu.1_Missense_Mutation_p.R66I	p.R66I	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	311_312	-			66					Q86WD9	Missense_Mutation	DNP	ENST00000309166.3	37	c.197_198GG>TT	CCDS31422.1																																																																																				0.510	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1		NM_020645		17	56	0	0	0	0.004672	0	17	56		
GTF2H1	2965	broad.mit.edu	37	11	18362845	18362845	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:18362845G>C	ENST00000265963.4	+	6	805	c.645G>C	c.(643-645)atG>atC	p.M215I	GTF2H1_ENST00000534641.1_Missense_Mutation_p.M99I|GTF2H1_ENST00000453096.2_Missense_Mutation_p.M215I|GTF2H1_ENST00000524753.4_Missense_Mutation_p.M11I	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	215	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CCCACAACATGACAGAGAAGG	0.358								Nucleotide excision repair (NER)																														uc001moi.2		NaN																	0					0						c.(643-645)ATG>ATC	NER	general transcription factor IIH, polypeptide 1,							85.0	82.0	83.0					11																	18362845		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18362845G>C		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.645G>C	11.37:g.18362845G>C	ENSP00000265963:p.Met215Ile					GTF2H1_uc001moh.2_Missense_Mutation_p.M215I|GTF2H1_uc009yhm.2_Missense_Mutation_p.M99I	p.M215I	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			7	1339	+			215			BSD 2.		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.645G>C	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542551	0.65198	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.18	5.18	0.71444	BSD (3);	0.037294	0.85682	D	0.000000	T	0.48607	0.1509	L	0.45470	1.425	0.80722	D	1	P	0.40834	0.73	P	0.47346	0.544	T	0.41197	-0.9522	10	0.40728	T	0.16	-11.7572	18.7002	0.91618	0.0:0.0:1.0:0.0	.	215	P32780	TF2H1_HUMAN	I	215;99;215;11	ENSP00000393638:M215I;ENSP00000435375:M99I;ENSP00000265963:M215I;ENSP00000436575:M11I	ENSP00000265963:M215I	M	+	3	0	GTF2H1	18319421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.009000	0.70745	2.430000	0.82344	0.561000	0.74099	ATG		0.358	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2		NM_005316		22	59	0	0	0	0.01892	0	22	59		
NAV2	89797	broad.mit.edu	37	11	20089894	20089894	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:20089894G>A	ENST00000396087.3	+	24	5200	c.5101G>A	c.(5101-5103)Gat>Aat	p.D1701N	NAV2_ENST00000360655.4_Missense_Mutation_p.D1581N|NAV2_ENST00000540292.1_Missense_Mutation_p.D1632N|NAV2_ENST00000533917.1_Missense_Mutation_p.D709N|NAV2_ENST00000349880.4_Missense_Mutation_p.D1645N|NAV2_ENST00000311043.8_Missense_Mutation_p.D709N|NAV2_ENST00000396085.1_Missense_Mutation_p.D1645N|NAV2_ENST00000527559.2_Missense_Mutation_p.D1630N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1701					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCGGGAACTGGATGCCTCCCA	0.502																																						uc010rdm.1		NaN																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(5101-5103)GAT>AAT		neuron navigator 2 isoform 2							106.0	107.0	107.0					11																	20089894		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20089894G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5101G>A	11.37:g.20089894G>A	ENSP00000379396:p.Asp1701Asn					NAV2_uc001mpp.2_Missense_Mutation_p.D1581N|NAV2_uc001mpr.3_Missense_Mutation_p.D1645N|NAV2_uc001mpt.2_Missense_Mutation_p.D694N|NAV2_uc009yhx.2_Missense_Mutation_p.D709N|NAV2_uc009yhy.1_Missense_Mutation_p.D607N|NAV2_uc009yhz.2_Missense_Mutation_p.D290N|NAV2_uc001mpu.2_Missense_Mutation_p.D83N	p.D1701N	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			24	5462	+			1701			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5101G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113738	0.77210	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94046	-1.16;-3.34;-3.34;-3.34;-3.34;-3.34;-1.16;-1.16;-1.16	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000008	D	0.85703	0.5758	N	0.10809	0.05	0.80722	D	1	B;P;B;B;P;P	0.48230	0.33;0.907;0.096;0.119;0.663;0.793	B;B;B;B;B;B	0.39706	0.084;0.261;0.024;0.033;0.307;0.219	D	0.85829	0.1390	9	.	.	.	.	16.9694	0.86295	0.0:0.0:1.0:0.0	.	1645;1701;709;694;1645;1581	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	N	1581;1645;1645;1701;1630;1632;709;694;709;694	ENSP00000353871:D1581N;ENSP00000379394:D1645N;ENSP00000309577:D1645N;ENSP00000379396:D1701N;ENSP00000435395:D1630N;ENSP00000443489:D1632N;ENSP00000437316:D709N;ENSP00000437136:D694N;ENSP00000312169:D709N	.	D	+	1	0	NAV2	20046470	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.547000	0.85894	0.555000	0.69702	GAT		0.502	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		63	127	0	0	0	0.01441	0	63	127		
ACCS	84680	broad.mit.edu	37	11	44097105	44097105	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:44097105C>G	ENST00000263776.8	+	6	953	c.519C>G	c.(517-519)ctC>ctG	p.L173L	ACCS_ENST00000432284.2_Missense_Mutation_p.L150V|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	173					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGCCTCGCTCTTCTCTGCTC	0.602																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc010rfo.1		NaN								Mis|N|F|S						exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(16-18)TCT>TGT		exostosin 2 isoform 2							272.0	187.0	216.0					11																	44097105		2203	4300	6503	SO:0001819	synonymous_variant	2132	Hereditary_Multiple_Exostoses			glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44097105C>G	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.519C>G	11.37:g.44097105C>G						ACCS_uc010rfm.1_Silent_p.L100L|ACCS_uc009yks.1_Silent_p.L173L|ACCS_uc010rfn.1_Missense_Mutation_p.L150V|ACCS_uc001mxx.2_Silent_p.L173L	p.S6C	NM_207122	NP_997005	Q93063	EXT2_HUMAN			1	30	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.17C>G	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675679	0.03378	.	.	ENSG00000110455	ENST00000432284	T	0.41758	0.99	4.82	1.69	0.24217	.	0.217040	0.38605	N	0.001621	T	0.26810	0.0656	.	.	.	0.21256	N	0.999746	B	0.11235	0.004	B	0.12156	0.007	T	0.18366	-1.0339	9	0.62326	D	0.03	-6.8176	4.1489	0.10228	0.1405:0.4122:0.3588:0.0885	.	150	B4E219	.	V	150	ENSP00000391775:L150V	ENSP00000391775:L150V	L	+	1	0	ACCS	44053681	0.997000	0.39634	0.989000	0.46669	0.943000	0.58893	0.289000	0.18957	0.559000	0.29153	-0.156000	0.13503	CTT		0.602	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1		NM_032592		12	74	0	0	0	0.024245	0	12	74		
CKAP5	9793	broad.mit.edu	37	11	46783565	46783565	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:46783565G>A	ENST00000529230.1	-	32	4252	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F	CKAP5_ENST00000354558.3_Silent_p.F1402F|CKAP5_ENST00000312055.5_Silent_p.F1402F|CKAP5_ENST00000415402.1_Silent_p.F1402F|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAATCAGTTTGAACACCTGAT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NaN																	0				ovary(1)|skin(1)	2						c.(4204-4206)TTC>TTT		colonic and hepatic tumor over-expressed protein							124.0	102.0	110.0					11																	46783565		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46783565G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4206C>T	11.37:g.46783565G>A						CKAP5_uc009ylg.1_Silent_p.F1288F|CKAP5_uc001ndj.1_Silent_p.F1402F|CKAP5_uc001ndh.1_Silent_p.F331F	p.F1402F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			32	4316	-			1402					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.4206C>T	CCDS31477.1																																																																																				0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1		NM_014756		26	100	0	0	0	0.034045	0	26	100		
OR4C13	283092	broad.mit.edu	37	11	49974700	49974700	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:49974700C>G	ENST00000555099.1	+	1	758	c.726C>G	c.(724-726)atC>atG	p.I242M		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTCCCACATCACAGTTGTCA	0.463																																						uc010rhz.1		NaN																	0				skin(3)|ovary(1)	4						c.(724-726)ATC>ATG		olfactory receptor, family 4, subfamily C,							182.0	159.0	167.0					11																	49974700		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974700C>G	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.726C>G	11.37:g.49974700C>G	ENSP00000452277:p.Ile242Met						p.I242M	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	726	+			242			Helical; Name=6; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.726C>G	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	7.074	0.568855	0.13560	.	.	ENSG00000258817	ENST00000555099	T	0.40476	1.03	2.91	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.38295	0.1035	L	0.35542	1.07	0.21822	N	0.999526	P	0.44281	0.831	P	0.53360	0.724	T	0.09997	-1.0649	9	.	.	.	.	5.1378	0.14943	0.2508:0.5275:0.2217:0.0	.	242	Q8NGP0	OR4CD_HUMAN	M	242	ENSP00000452277:I242M	.	I	+	3	3	OR4C13	49931276	0.000000	0.05858	0.977000	0.42913	0.088000	0.18126	-1.489000	0.02306	0.497000	0.27926	0.186000	0.17326	ATC		0.463	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1		NM_001001955		21	122	0	0	0	0.01892	0	21	122		
MARK2	2011	broad.mit.edu	37	11	63668461	63668461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:63668461G>T	ENST00000509502.2	+	11	1385	c.922G>T	c.(922-924)Gag>Tag	p.E308*	MARK2_ENST00000350490.7_Nonsense_Mutation_p.E341*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.E308*|MARK2_ENST00000402010.2_Nonsense_Mutation_p.E341*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.E341*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.E308*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.E341*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.E308*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.E308*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.E341*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.E341*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.E341*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.E341*	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TACACGGGAAGAGATCCAGGA	0.577																																						uc001nxw.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1021-1023)GAG>TAG		MAP/microtubule affinity-regulating kinase 2							128.0	107.0	114.0					11																	63668461		2201	4297	6498	SO:0001587	stop_gained	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668461G>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.922G>T	11.37:g.63668461G>T	ENSP00000423974:p.Glu308*					MARK2_uc001nxx.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxy.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxv.3_Nonsense_Mutation_p.E341*|MARK2_uc001nxz.3_Nonsense_Mutation_p.E308*|MARK2_uc009yoy.2_Nonsense_Mutation_p.E308*	p.E341*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			11	1600	+			341			UBA.			Nonsense_Mutation	SNP	ENST00000509502.2	37	c.1021G>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	37	6.165230	0.97338	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	13.1085	0.59261	0.0787:0.0:0.9213:0.0	.	.	.	.	X	341;341;341;341;308;341;341;341;341;308;308;308;308	.	ENSP00000326632:E341X	E	+	1	0	MARK2	63425037	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	1.447000	0.47661	0.557000	0.71058	GAG		0.577	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		10	96	1	0	1.08611e-07	0.010729	1.16892e-07	10	96		
SUV420H1	51111	broad.mit.edu	37	11	67957497	67957497	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:67957497C>G	ENST00000304363.4	-	2	400	c.47G>C	c.(46-48)aGa>aCa	p.R16T	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R16T|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R16T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R16T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R16T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	16					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.R16I(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCTCCATTTCTCCTGCCATT	0.478																																						uc001onm.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|kidney(1)	3						c.(46-48)AGA>ACA		suppressor of variegation 4-20 homolog 1 isoform							299.0	255.0	270.0					11																	67957497		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67957497C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.47G>C	11.37:g.67957497C>G	ENSP00000305899:p.Arg16Thr					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R16T|SUV420H1_uc001onp.2_Missense_Mutation_p.R16T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R16T|SUV420H1_uc001onq.2_Missense_Mutation_p.R16T	p.R16T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			2	303	-			16					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.47G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138611	0.94560	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.60920	0.93;0.93;0.93;0.93;0.15;0.93	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.76494	0.967;0.981;0.989;0.999	P;D;D;D	0.80764	0.879;0.966;0.985;0.994	T	0.72272	-0.4342	10	0.87932	D	0	-36.7089	20.3559	0.98840	0.0:1.0:0.0:0.0	.	16;16;16;16	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	T	16	ENSP00000305899:R16T;ENSP00000385965:R16T;ENSP00000385640:R16T;ENSP00000385005:R16T;ENSP00000384724:R16T;ENSP00000402921:R16T	ENSP00000305899:R16T	R	-	2	0	SUV420H1	67714073	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.556000	0.67307	2.890000	0.99128	0.585000	0.79938	AGA		0.478	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		58	292	0	0	0	0.01441	0	58	292		
ARAP1	116985	broad.mit.edu	37	11	72418281	72418281	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:72418281C>T	ENST00000393609.3	-	12	1864	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	ARAP1_ENST00000334211.8_Silent_p.G309G|ARAP1_ENST00000393605.3_Silent_p.G314G|ARAP1_ENST00000426523.1_Silent_p.G309G|ARAP1_ENST00000429686.1_Silent_p.G309G|ARAP1_ENST00000455638.2_Silent_p.G554G|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000359373.5_Silent_p.G554G	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	554	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTGAGGAGCCCCGCAGTCAG	0.647																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NaN																	0				skin(1)	1						c.(1660-1662)GGG>GGA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							50.0	41.0	44.0					11																	72418281		2198	4293	6491	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418281C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1662G>A	11.37:g.72418281C>T						ARAP1_uc001osv.2_Silent_p.G554G|ARAP1_uc001osr.2_Silent_p.G314G|ARAP1_uc001oss.2_Silent_p.G309G|ARAP1_uc009yth.2_Silent_p.G309G|ARAP1_uc010rre.1_Silent_p.G309G	p.G554G	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			12	1851	-			554			C4-type.|Arf-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.1662G>A	CCDS41687.1																																																																																				0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		NM_001040118		7	10	0	0	0	0.00308	0	7	10		
THRSP	7069	broad.mit.edu	37	11	77775045	77775045	+	Missense_Mutation	SNP	G	G	A	rs370364182		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:77775045G>A	ENST00000281030.2	+	1	139	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	40					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TCTGCGGGACGTGCAGCTGAG	0.617																																						uc001oyx.2		NaN																	0				breast(1)	1						c.(118-120)GTG>ATG		thyroid hormone-responsive protein		G	MET/VAL,,,	1,4399	2.1+/-5.4	0,1,2199	89.0	86.0	87.0		118,,,	-1.5	0.0	11		87	0,8584		0,0,4292	no	missense,intron,intron,intron	THRSP,NDUFC2-KCTD14	NM_003251.3,NM_001203260.1,NM_001203261.1,NM_001203262.1	21,,,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,,,	40/147,,,	77775045	1,12983	2200	4292	6492	SO:0001583	missense	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775045G>A	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.118G>A	11.37:g.77775045G>A	ENSP00000281030:p.Val40Met						p.V40M	NM_003251	NP_003242	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	139	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		40					B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	c.118G>A	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230301	0.09969	2.27E-4	0.0	ENSG00000151365	ENST00000281030	.	.	.	5.11	-1.49	0.08718	.	0.562201	0.17366	N	0.176843	T	0.16769	0.0403	.	.	.	0.09310	N	1	P	0.44776	0.843	B	0.35114	0.196	T	0.12734	-1.0536	8	0.51188	T	0.08	-0.1853	6.2333	0.20747	0.3677:0.1185:0.5139:0.0	.	40	Q92748	THRSP_HUMAN	M	40	.	ENSP00000281030:V40M	V	+	1	0	THRSP	77452693	0.647000	0.27304	0.000000	0.03702	0.051000	0.14879	0.848000	0.27710	-0.455000	0.07054	-0.224000	0.12420	GTG		0.617	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1		NM_003251		21	110	0	0	0	0.014323	0	21	110		
PRCP	5547	broad.mit.edu	37	11	82560964	82560964	+	Nonsense_Mutation	SNP	G	G	C	rs377237533		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:82560964G>C	ENST00000313010.3	-	5	937	c.743C>G	c.(742-744)tCa>tGa	p.S248*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.S269*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.S143*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	248	SKS domain.			S -> L (in Ref. 3; BAG52417). {ECO:0000305}.	angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAGTATTTGAGAGTCGATT	0.348																																						uc001ozs.2		NaN																	0				skin(1)	1						c.(742-744)TCA>TGA		prolylcarboxypeptidase isoform 1 preproprotein							67.0	70.0	69.0					11																	82560964		2203	4300	6503	SO:0001587	stop_gained	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82560964G>C	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.743C>G	11.37:g.82560964G>C	ENSP00000317362:p.Ser248*					PRCP_uc001ozr.2_Nonsense_Mutation_p.S269*	p.S248*	NM_005040	NP_005031	P42785	PCP_HUMAN			5	856	-			248			SKS domain.		A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	c.743C>G	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960372	0.34565	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396	.	.	.	5.34	2.31	0.28768	.	0.649100	0.16991	N	0.191293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4785	10.1843	0.42988	0.07:0.2588:0.6712:0.0	.	.	.	.	X	248;269;143;143;143;143;143;143	.	.	S	-	2	0	PRCP	82238612	0.952000	0.32445	0.001000	0.08648	0.033000	0.12548	4.889000	0.63171	0.280000	0.22209	0.650000	0.86243	TCA		0.348	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1		NM_005040		9	99	0	0	0	0.016723	0	9	99		
CCDC81	60494	broad.mit.edu	37	11	86133623	86133623	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:86133623G>A	ENST00000445632.2	+	15	2097	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	CCDC81_ENST00000278487.3_Missense_Mutation_p.D344N|CCDC81_ENST00000528728.1_Missense_Mutation_p.D344N|CCDC81_ENST00000354755.1_Missense_Mutation_p.D519N	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	609										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAGGGCTTCAGACAAGCTGTT	0.562																																						uc001pbx.1		NaN																	0				skin(1)	1						c.(1825-1827)GAC>AAC		coiled-coil domain containing 81 isoform 1							71.0	67.0	68.0					11																	86133623		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86133623G>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1825G>A	11.37:g.86133623G>A	ENSP00000415528:p.Asp609Asn					CCDC81_uc001pbw.1_Missense_Mutation_p.D519N|CCDC81_uc010rtq.1_Missense_Mutation_p.D392N|CCDC81_uc001pby.1_Missense_Mutation_p.D344N	p.D609N	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			15	2253	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	609					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1825G>A	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718947	0.68844	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.02	2.14	0.27477	.	0.195635	0.45606	N	0.000360	T	0.49508	0.1561	M	0.72118	2.19	0.23739	N	0.99698	D;D;B	0.89917	1.0;0.997;0.197	D;D;B	0.97110	1.0;0.948;0.103	T	0.35525	-0.9785	9	.	.	.	-9.8158	9.1676	0.37060	0.2843:0.0:0.7157:0.0	.	344;609;519	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	N	519;344;609;344	ENSP00000346800:D519N;ENSP00000278487:D344N;ENSP00000415528:D609N;ENSP00000437165:D344N	.	D	+	1	0	CCDC81	85811271	0.753000	0.28349	0.167000	0.22817	0.993000	0.82548	0.827000	0.27421	0.156000	0.19299	0.655000	0.94253	GAC		0.562	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1		NM_021827		28	76	0	0	0	0.013726	0	28	76		
FAT3	120114	broad.mit.edu	37	11	92616453	92616453	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:92616453G>A	ENST00000298047.6	+	23	12848	c.12831G>A	c.(12829-12831)cgG>cgA	p.R4277R	FAT3_ENST00000409404.2_Silent_p.R4277R|FAT3_ENST00000533797.1_Silent_p.R612R|FAT3_ENST00000525166.1_Silent_p.R4127R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4277					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGCCCGGCGGGGCGTGG	0.662										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(12829-12831)CGG>CGA		FAT tumor suppressor homolog 3							41.0	51.0	48.0					11																	92616453		2091	4197	6288	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616453G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12831G>A	11.37:g.92616453G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.R717R	p.R4277R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12848	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4277			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12831G>A																																																																																					0.662	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		28	96	0	0	0	0.012213	0	28	96		
KIAA1377	57562	broad.mit.edu	37	11	101857622	101857622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:101857622G>T	ENST00000263468.8	+	9	3364	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E833*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1032										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCAGTGCCGGAGGATGAGAT	0.363																																						uc001pgm.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(3094-3096)GAG>TAG		hypothetical protein LOC57562							155.0	156.0	156.0					11																	101857622		2203	4299	6502	SO:0001587	stop_gained	57562						protein binding	g.chr11:101857622G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3094G>T	11.37:g.101857622G>T	ENSP00000263468:p.Glu1032*					KIAA1377_uc001pgn.2_Nonsense_Mutation_p.E988*|KIAA1377_uc010run.1_Nonsense_Mutation_p.E833*	p.E1032*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	9	3364	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1032					Q4G0U6	Nonsense_Mutation	SNP	ENST00000263468.8	37	c.3094G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	45	11.344649	0.99549	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.9245	18.5148	0.90931	0.0:0.0:1.0:0.0	.	.	.	.	X	1032;833	.	ENSP00000263468:E1032X	E	+	1	0	KIAA1377	101362832	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.987000	0.70571	2.739000	0.93911	0.655000	0.94253	GAG		0.363	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802		54	144	1	0	8.73484e-25	0.01441	9.95555e-25	54	144		
ALG9	79796	broad.mit.edu	37	11	111680410	111680410	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:111680410C>G	ENST00000531154.1	-	14	1649	c.1177G>C	c.(1177-1179)Gaa>Caa	p.E393Q	ALG9_ENST00000398006.2_Missense_Mutation_p.E386Q|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	557					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.E393K(1)|p.E790K(1)|p.E789K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTGATCCATTCTTCTTTATTG	0.388																																						uc001pmb.2		NaN																	3	Substitution - Missense(3)		large_intestine(3)	large_intestine(1)|ovary(1)	2						c.(1669-1671)GAA>CAA		asparagine-linked glycosylation 9 protein							170.0	158.0	162.0					11																	111680410		1827	4073	5900	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111680410C>G		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1177G>C	11.37:g.111680410C>G	ENSP00000435517:p.Glu393Gln					ALG9_uc001ply.2_Missense_Mutation_p.E386Q|ALG9_uc001plz.2_Missense_Mutation_p.E393Q|ALG9_uc010rwm.1_Missense_Mutation_p.E564Q|ALG9_uc010rwn.1_Missense_Mutation_p.E511Q|ALG9_uc010rwo.1_Missense_Mutation_p.E385Q	p.E557Q	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	15	1768	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	557			Lumenal (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.1669G>C	CCDS41714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.504114|2.504114	0.44558|0.44558	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306|ENST00000532425	T;T|.	0.73897|.	-0.79;-0.79|.	5.96|5.96	5.06|5.06	0.68205|0.68205	.|.	0.047229|.	0.85682|.	D|.	0.000000|.	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.39467|0.39467	1.215|1.215	0.58432|0.58432	D|D	0.999999|0.999999	P;B;B|.	0.36282|.	0.546;0.111;0.067|.	B;B;B|.	0.32864|.	0.154;0.088;0.024|.	T|T	0.54984|0.54984	-0.8211|-0.8211	10|5	0.12430|.	T|.	0.62|.	-5.6988|-5.6988	13.8695|13.8695	0.63610|0.63610	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	386;564;557|.	B4DQI3;Q9H6U8-3;Q9H6U8|.	.;.;ALG9_HUMAN|.	Q|N	393;386;790|141	ENSP00000435517:E393Q;ENSP00000381090:E386Q|.	ENSP00000381090:E386Q|.	E|K	-|-	1|3	0|2	ALG9|ALG9	111185620|111185620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	4.772000|4.772000	0.62324|0.62324	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.388	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1		NM_024740		14	70	0	0	0	0.028581	0	14	70		
DSCAML1	57453	broad.mit.edu	37	11	117391942	117391942	+	Silent	SNP	G	G	T	rs375008754		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:117391942G>T	ENST00000321322.6	-	6	1297	c.1296C>A	c.(1294-1296)ctC>ctA	p.L432L	DSCAML1_ENST00000527706.1_Silent_p.L162L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	372	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGAGGTGATGAGCAGCGTCT	0.637																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1294-1296)CTC>CTA		Down syndrome cell adhesion molecule like 1							124.0	104.0	111.0					11																	117391942		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117391942G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1296C>A	11.37:g.117391942G>T						DSCAML1_uc001pri.1_Silent_p.L236L	p.L432L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1298	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	372			Extracellular (Potential).|Ig-like C2-type 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.1296C>A	CCDS8384.1																																																																																				0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		44	117	1	0	2.27781e-18	0.01441	2.58011e-18	44	117		
ETS1	2113	broad.mit.edu	37	11	128354930	128354930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128354930G>A	ENST00000319397.6	-	5	827	c.518C>T	c.(517-519)tCg>tTg	p.S173L	ETS1_ENST00000345075.4_Missense_Mutation_p.S173L|ETS1_ENST00000526145.2_Missense_Mutation_p.S173L|ETS1_ENST00000531611.1_Missense_Mutation_p.S173L|ETS1_ENST00000392668.4_Missense_Mutation_p.S217L|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	173	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483																																						uc010sbs.1		NaN																	0				lung(4)|central_nervous_system(1)|pleura(1)	6						c.(517-519)TCG>TTG		v-ets erythroblastosis virus E26 oncogene							162.0	146.0	152.0					11																	128354930		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354930G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.518C>T	11.37:g.128354930G>A	ENSP00000324578:p.Ser173Leu					ETS1_uc001qej.2_Missense_Mutation_p.S217L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S173L	p.S173L	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	5	834	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	173					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.518C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923724	0.34002	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.52526	2.94;2.62;0.66;2.63;2.94	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.50333	1.59	0.80722	D	1	D;B;B	0.69078	0.997;0.046;0.013	D;B;B	0.70227	0.968;0.008;0.002	T	0.56007	-0.8050	10	0.29301	T	0.29	.	20.0731	0.97731	0.0:0.0:1.0:0.0	.	173;173;217	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	L	173;217;173;173;173	ENSP00000340485:S173L;ENSP00000376436:S217L;ENSP00000435666:S173L;ENSP00000324578:S173L;ENSP00000433500:S173L	ENSP00000324578:S173L	S	-	2	0	ETS1	127860140	1.000000	0.71417	0.162000	0.22713	0.010000	0.07245	9.823000	0.99369	2.742000	0.94016	0.655000	0.94253	TCG		0.483	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2		NM_005238		29	179	0	0	0	0.023175	0	29	179		
ARHGAP32	9743	broad.mit.edu	37	11	128842725	128842725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128842725G>A	ENST00000310343.9	-	21	3633	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q863*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q863*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1212					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGAGGCTGATCTCCACTG	0.453																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(3634-3636)CAG>TAG		Rho GTPase-activating protein isoform 1							78.0	81.0	80.0					11																	128842725		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128842725G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3634C>T	11.37:g.128842725G>A	ENSP00000310561:p.Gln1212*					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Nonsense_Mutation_p.Q171*|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.Q863*	p.Q1212*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			21	3634	-			1212					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.3634C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	37	6.175501	0.97348	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.58	2.43	0.29744	.	0.775106	0.11672	N	0.540799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	10.2422	0.43319	0.0:0.3398:0.4731:0.187	.	.	.	.	X	1212;863;863	.	ENSP00000310561:Q1212X	Q	-	1	0	ARHGAP32	128347935	0.001000	0.12720	0.003000	0.11579	0.828000	0.46876	0.450000	0.21762	0.679000	0.31345	0.563000	0.77884	CAG		0.453	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		16	37	0	0	0	0.0333	0	16	37		
IGSF9B	22997	broad.mit.edu	37	11	133814125	133814125	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:133814125G>A	ENST00000321016.8	-	3	629	c.399C>T	c.(397-399)ctC>ctT	p.L133L	IGSF9B_ENST00000533871.2_Silent_p.L133L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	133					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTTGATGGTGAGGTGGACCC	0.602																																						uc001qgx.3		NaN																	0					0						c.(397-399)CTC>CTT		immunoglobulin superfamily, member 9B							79.0	88.0	85.0					11																	133814125		2063	4210	6273	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133814125G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.399C>T	11.37:g.133814125G>A						IGSF9B_uc001qgz.2_RNA	p.L133L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	3	630	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	133			Extracellular (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.399C>T																																																																																					0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		7	25	0	0	0	0.006214	0	7	25		
GLB1L3	112937	broad.mit.edu	37	11	134162074	134162074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:134162074G>A	ENST00000431683.2	+	8	778	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GLB1L3_ENST00000389887.5_Missense_Mutation_p.E260K	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	260					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCTGATGGTGAGAAACATGT	0.473																																						uc009zdf.2		NaN																	0				pancreas(1)	1						c.(778-780)GAG>AAG		galactosidase, beta 1 like 3							78.0	74.0	75.0					11																	134162074		1943	4160	6103	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134162074G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.778G>A	11.37:g.134162074G>A	ENSP00000396615:p.Glu260Lys					GLB1L3_uc010scs.1_Missense_Mutation_p.E260K|GLB1L3_uc010sct.1_Missense_Mutation_p.E112K|GLB1L3_uc010scu.1_5'UTR	p.E260K	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	8	1138	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	260					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.778G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	4.627	0.116454	0.08881	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97906	-4.6;-4.6	4.75	-3.62	0.04543	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.84124	0.5403	N	0.00399	-1.545	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.002	T	0.81978	-0.0685	9	0.15499	T	0.54	.	1.8787	0.03223	0.3102:0.3523:0.2178:0.1197	.	260;260	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	K	260	ENSP00000374537:E260K;ENSP00000396615:E260K	ENSP00000374537:E260K	E	+	1	0	GLB1L3	133667284	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.454000	0.06770	-0.532000	0.06332	0.650000	0.86243	GAG		0.473	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1		NM_138416		15	26	0	0	0	0.008871	0	15	26		
CACNA1C	775	broad.mit.edu	37	12	2676892	2676892	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:2676892G>C	ENST00000347598.4	+	13	1827	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N	CACNA1C_ENST00000399603.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K634N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K609N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K609N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	609					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAGACCAAGATCATGTCCC	0.587																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(1825-1827)AAG>AAC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						40.0	43.0	42.0					12																	2676892		2190	4299	6489	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676892G>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1827G>C	12.37:g.2676892G>C	ENSP00000266376:p.Lys609Asn					CACNA1C_uc009zdv.1_Missense_Mutation_p.K606N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K609N|CACNA1C_uc001qke.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K609N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K609N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K609N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K609N|CACNA1C_uc001qko.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K609N|CACNA1C_uc001qku.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K609N|CACNA1C_uc001qks.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K609N|CACNA1C_uc001qka.1_Missense_Mutation_p.K144N|CACNA1C_uc001qki.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K345N	p.K609N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2140	+			609			II.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1827G>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300476	0.60195	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85	5.28	5.28	0.74379	Ion transport (1);	0.413458	0.29868	N	0.010981	D	0.96623	0.8898	N	0.04746	-0.17	0.58432	D	0.999992	P;P;B;P;P;P;P;B;B;P;P;B;P;P;D;P;B;P;B;P;P;P;B;B;P	0.53745	0.852;0.493;0.005;0.765;0.953;0.675;0.953;0.002;0.409;0.953;0.675;0.024;0.917;0.942;0.962;0.873;0.011;0.953;0.011;0.675;0.953;0.953;0.037;0.241;0.675	P;B;B;P;P;B;P;B;B;P;B;B;P;P;P;P;B;P;B;B;P;P;B;B;B	0.60286	0.56;0.234;0.014;0.56;0.798;0.372;0.798;0.008;0.199;0.798;0.372;0.037;0.839;0.76;0.872;0.544;0.008;0.798;0.008;0.372;0.798;0.798;0.033;0.196;0.372	D	0.95747	0.8788	10	0.23302	T	0.38	.	19.0939	0.93242	0.0:0.0:1.0:0.0	.	609;606;609;609;609;609;609;609;609;609;609;580;609;609;609;609;609;609;609;609;609;609;609;609;609	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	634;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;609;450	ENSP00000336982:K634N;ENSP00000382563:K609N;ENSP00000437936:K609N;ENSP00000382552:K609N;ENSP00000382547:K609N;ENSP00000382506:K609N;ENSP00000382530:K609N;ENSP00000382546:K609N;ENSP00000382500:K609N;ENSP00000382549:K609N;ENSP00000266376:K609N;ENSP00000382515:K609N;ENSP00000382510:K609N;ENSP00000341092:K609N;ENSP00000382537:K609N;ENSP00000329877:K609N;ENSP00000382557:K609N;ENSP00000385724:K609N;ENSP00000382512:K609N;ENSP00000382542:K609N;ENSP00000382526:K609N;ENSP00000385896:K609N;ENSP00000382504:K609N	ENSP00000323129:K450N	K	+	3	2	CACNA1C	2547153	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.553000	0.60753	2.747000	0.94245	0.462000	0.41574	AAG		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		4	39	0	0	0	0.009096	0	4	39		
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:6952355C>T	ENST00000229264.3	+	6	626	c.221C>T	c.(220-222)tCg>tTg	p.S74L	GNB3_ENST00000435982.2_Missense_Mutation_p.S74L|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	74					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)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTAAGTGCCTCGCAAGATGGG	0.612																																						uc001qrd.2		NaN																	0					0						c.(220-222)TCG>TTG		guanine nucleotide-binding protein, beta-3							190.0	164.0	172.0					12																	6952355		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952355C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.221C>T	12.37:g.6952355C>T	ENSP00000229264:p.Ser74Leu					GNB3_uc001qrc.2_Missense_Mutation_p.S30L|GNB3_uc009zfe.2_Missense_Mutation_p.S74L	p.S74L	NM_002075	NP_002066	P16520	GBB3_HUMAN			6	626	+			74			WD 1.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.221C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211266	0.95069	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.78314	0.991;0.779	D	0.92909	0.6346	10	0.87932	D	0	-1.2854	18.2057	0.89853	0.0:1.0:0.0:0.0	.	74;74	E9PCP0;P16520	.;GBB3_HUMAN	L	74	ENSP00000229264:S74L;ENSP00000442002:S74L;ENSP00000414734:S74L;ENSP00000445967:S74L	ENSP00000229264:S74L	S	+	2	0	GNB3	6822616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.531000	0.85337	0.484000	0.47621	TCG		0.612	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		NM_002075		33	219	0	0	0	0.023175	0	33	219		
SLC2A3	6515	broad.mit.edu	37	12	8078455	8078455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:8078455G>C	ENST00000075120.7	-	7	1191	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	317					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTACAGTGAAGATAGTATTAA	0.433																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(949-951)ATC>ATG		solute carrier family 2 (facilitated glucose							131.0	128.0	129.0					12																	8078455		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8078455G>C	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.951C>G	12.37:g.8078455G>C	ENSP00000075120:p.Ile317Met						p.I317M	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	7	1213	-			317			Helical; Name=8; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.951C>G	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543859	0.45280	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	D	0.82893	-1.66	3.88	-0.553	0.11815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.190981	0.45126	D	0.000397	D	0.84483	0.5482	M	0.78285	2.405	0.32428	N	0.548381	B	0.25850	0.136	P	0.44477	0.451	T	0.82230	-0.0560	10	0.59425	D	0.04	.	5.3912	0.16245	0.2148:0.4543:0.331:0.0	.	317	P11169	GTR3_HUMAN	M	317;243	ENSP00000075120:I317M	ENSP00000075120:I317M	I	-	3	3	SLC2A3	7969722	0.933000	0.31639	0.791000	0.31998	0.965000	0.64279	0.462000	0.21956	0.076000	0.16826	0.467000	0.42956	ATC		0.433	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931		16	163	0	0	0	0.008871	0	16	163		
ABCC9	10060	broad.mit.edu	37	12	22068679	22068679	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:22068679C>A	ENST00000261201.4	-	5	738	c.739G>T	c.(739-741)Gca>Tca	p.A247S	ABCC9_ENST00000261200.4_Missense_Mutation_p.A247S|ABCC9_ENST00000345162.2_Missense_Mutation_p.A247S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	247					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTCCAATTGCCTTCAGATCA	0.363																																						uc001rfi.1		NaN																	0				ovary(4)|skin(2)	6						c.(739-741)GCA>TCA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						145.0	134.0	138.0					12																	22068679		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068679C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.739G>T	12.37:g.22068679C>A	ENSP00000261201:p.Ala247Ser					ABCC9_uc001rfh.2_Missense_Mutation_p.A247S|ABCC9_uc001rfj.1_Missense_Mutation_p.A247S	p.A247S	NM_005691	NP_005682	O60706	ABCC9_HUMAN			5	759	-			247			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.739G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471323	0.12461	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.91843	-2.9;-2.92;-2.9	4.91	4.91	0.64330	.	0.225294	0.47093	D	0.000259	D	0.88385	0.6422	L	0.44542	1.39	0.35849	D	0.826598	B;B	0.25563	0.129;0.01	B;B	0.29524	0.103;0.022	D	0.87911	0.2697	10	0.39692	T	0.17	-16.6245	11.7245	0.51702	0.0:0.9195:0.0:0.0805	.	247;247	O60706;O60706-2	ABCC9_HUMAN;.	S	247	ENSP00000261200:A247S;ENSP00000261201:A247S;ENSP00000261202:A247S	ENSP00000261200:A247S	A	-	1	0	ABCC9	21959946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.722000	0.54948	2.548000	0.85928	0.650000	0.86243	GCA		0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		92	72	1	0	9.24413e-38	0.01441	1.07361e-37	92	72		
FGD4	121512	broad.mit.edu	37	12	32729320	32729320	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32729320C>G	ENST00000427716.2	+	3	453	c.29C>G	c.(28-30)tCt>tGt	p.S10C	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Missense_Mutation_p.S95C|FGD4_ENST00000473513.1_3'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.S122C|FGD4_ENST00000472289.1_Missense_Mutation_p.S10C|FGD4_ENST00000534526.2_Missense_Mutation_p.S147C|FGD4_ENST00000546442.1_Intron	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	10	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCCTCTGCTTCTTGTGTCTCA	0.443																																						uc001rkz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(28-30)TCT>TGT		FYVE, RhoGEF and PH domain containing 4							88.0	83.0	85.0					12																	32729320		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32729320C>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.29C>G	12.37:g.32729320C>G	ENSP00000394487:p.Ser10Cys					FGD4_uc001rlc.2_Missense_Mutation_p.S95C|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.S122C|FGD4_uc001rkx.3_Missense_Mutation_p.S10C	p.S10C	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			3	506	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		10			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.29C>G	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.561059	0.27827	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000525053	T;T;T;T	0.75050	-0.82;-0.78;-0.9;-0.82	5.51	4.43	0.53597	.	0.161104	0.28736	N	0.014305	T	0.77384	0.4122	L	0.27053	0.805	0.80722	D	1	D;P;D;D	0.89917	0.992;0.947;0.975;1.0	P;P;P;D	0.72075	0.754;0.62;0.498;0.976	T	0.79538	-0.1762	10	0.72032	D	0.01	-5.6763	13.4768	0.61314	0.0:0.9145:0.0:0.0855	.	122;95;10;10	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	C	147;95;10;10;122	ENSP00000449273:S147C;ENSP00000431323:S95C;ENSP00000394487:S10C;ENSP00000433666:S122C	ENSP00000379089:S10C	S	+	2	0	FGD4	32620587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.835000	0.62781	2.589000	0.87451	0.591000	0.81541	TCT		0.443	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1		NM_139241		18	68	0	0	0	0.014323	0	18	68		
ADAMTS20	80070	broad.mit.edu	37	12	43750291	43750291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43750291G>A	ENST00000389420.3	-	38	5638	c.5639C>T	c.(5638-5640)tCa>tTa	p.S1880L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1880	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTACCTCTGATCTTCGTAT	0.408																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(5638-5640)TCA>TTA		a disintegrin-like and metalloprotease with							87.0	79.0	82.0					12																	43750291		2203	4299	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43750291G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5639C>T	12.37:g.43750291G>A	ENSP00000374071:p.Ser1880Leu						p.S1880L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	38	5639	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1880			GON.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.5639C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506977	0.64410	.	.	ENSG00000173157	ENST00000389420	T	0.19105	2.17	5.15	5.15	0.70609	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.47455	D	0.000223	T	0.47154	0.1430	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	T	0.43877	-0.9364	10	0.72032	D	0.01	.	19.5133	0.95153	0.0:0.0:1.0:0.0	.	1880	P59510	ATS20_HUMAN	L	1880	ENSP00000374071:S1880L	ENSP00000374071:S1880L	S	-	2	0	ADAMTS20	42036558	1.000000	0.71417	0.984000	0.44739	0.108000	0.19459	7.139000	0.77314	2.785000	0.95823	0.655000	0.94253	TCA		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		5	9	0	0	0	0.021553	0	5	9		
ADAMTS20	80070	broad.mit.edu	37	12	43822323	43822323	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43822323G>A	ENST00000389420.3	-	26	3665	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	ADAMTS20_ENST00000553158.1_Silent_p.S1222S|ADAMTS20_ENST00000395541.2_Silent_p.S340S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1222	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGGCCACAGGAAGCTGAAC	0.313																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3664-3666)TCC>TCT		a disintegrin-like and metalloprotease with							33.0	35.0	34.0					12																	43822323		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822323G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3666C>T	12.37:g.43822323G>A						ADAMTS20_uc001rno.1_Silent_p.S340S|ADAMTS20_uc001rnp.1_Silent_p.S376S	p.S1222S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	26	3666	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1222			TSP type-1 8.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.3666C>T	CCDS31778.2																																																																																				0.313	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		7	15	0	0	0	0.00308	0	7	15		
SENP1	29843	broad.mit.edu	37	12	48482596	48482596	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:48482596C>T	ENST00000004980.5	-	5	846	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SENP1_ENST00000448372.1_Missense_Mutation_p.R123Q|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.R123Q|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.R123Q|SENP1_ENST00000551330.1_Missense_Mutation_p.R123Q			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	123	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGAGGTCTTTCGGGTTTCGAG	0.403																																						uc001rqx.2		NaN																	0				pancreas(2)|lung(1)	3						c.(367-369)CGA>CAA		sentrin/SUMO-specific protease 1							124.0	109.0	114.0					12																	48482596		1827	4088	5915	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48482596C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.368G>A	12.37:g.48482596C>T	ENSP00000004980:p.Arg123Gln					SENP1_uc001rqw.2_Missense_Mutation_p.R123Q|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.R123Q	p.R123Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			5	814	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	123			Ser-rich.		A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.368G>A	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953373	0.73902	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.17370	2.29;2.28;2.29;2.28;2.29	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000041	T	0.26412	0.0645	N	0.17082	0.46	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.72982	0.953;0.979	T	0.04737	-1.0930	10	0.49607	T	0.09	-6.6269	15.9521	0.79846	0.0:1.0:0.0:0.0	.	123;123	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	Q	123;123;123;123;123;116	ENSP00000004980:R123Q;ENSP00000394791:R123Q;ENSP00000446681:R123Q;ENSP00000450076:R123Q;ENSP00000447328:R123Q	ENSP00000004980:R123Q	R	-	2	0	SENP1	46768863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.572000	0.86782	0.555000	0.69702	CGA		0.403	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1		NM_014554		5	6	0	0	0	0.02938	0	5	6		
METTL7A	25840	broad.mit.edu	37	12	51319031	51319031	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319031G>A	ENST00000548553.1	+	2	1191	c.210G>A	c.(208-210)ggG>ggA	p.G70G	METTL7A_ENST00000332160.4_Silent_p.G70G			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	70						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GCCCCTCCGGGAAACTCTCCC	0.562																																						uc001rxb.2		NaN																	0					0						c.(208-210)GGG>GGA		methyltransferase like 7A precursor							37.0	37.0	37.0					12																	51319031		2203	4300	6503	SO:0001819	synonymous_variant	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319031G>A		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.210G>A	12.37:g.51319031G>A						METTL7A_uc010smv.1_Silent_p.G70G	p.G70G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			1	498	+			70					Q9H7R3|Q9UHZ7|Q9Y422	Silent	SNP	ENST00000548553.1	37	c.210G>A	CCDS8804.1																																																																																				0.562	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		4	24	0	0	0	0.014758	0	4	24		
METTL7A	25840	broad.mit.edu	37	12	51319142	51319142	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319142G>A	ENST00000548553.1	+	2	1302	c.321G>A	c.(319-321)ttG>ttA	p.L107L	METTL7A_ENST00000332160.4_Silent_p.L107L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	107						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						AGAAGTTTTTGATCAAGAGCA	0.557																																						uc001rxb.2		NaN																	0					0						c.(319-321)TTG>TTA		methyltransferase like 7A precursor							80.0	74.0	76.0					12																	51319142		2203	4300	6503	SO:0001819	synonymous_variant	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319142G>A		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.321G>A	12.37:g.51319142G>A						METTL7A_uc010smv.1_Intron	p.L107L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			1	609	+			107					Q9H7R3|Q9UHZ7|Q9Y422	Silent	SNP	ENST00000548553.1	37	c.321G>A	CCDS8804.1																																																																																				0.557	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		11	44	0	0	0	0.013537	0	11	44		
ZNF740	283337	broad.mit.edu	37	12	53579200	53579200	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:53579200G>A	ENST00000416904.3	+	4	634	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						ATAAGTCCCGGAGCCGCAAAG	0.453																																						uc001scb.3		NaN																	0					0						c.(187-189)CGG>CGA		zinc finger protein 740							76.0	75.0	76.0					12																	53579200		1880	4117	5997	SO:0001819	synonymous_variant	283337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr12:53579200G>A	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.189G>A	12.37:g.53579200G>A							p.R63R	NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN			4	583	+			63					A8K9M9	Silent	SNP	ENST00000416904.3	37	c.189G>A	CCDS44896.1																																																																																				0.453	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2		NM_001004304		10	22	0	0	0	0.013537	0	10	22		
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512																																						uc001sjh.2		NaN																	1	Substitution - Missense(1)		breast(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(889-891)GAT>TAT		erbB-3 isoform 1 precursor							214.0	207.0	209.0					12																	56482341		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482341G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.889G>T	12.37:g.56482341G>T	ENSP00000267101:p.Asp297Tyr					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	p.D297Y	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1082	+			297			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.889G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070538	0.76301	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.90659	0.7070	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91282	0.5052	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	297	P21860	ERBB3_HUMAN	Y	297;297;238	ENSP00000267101:D297Y;ENSP00000408340:D238Y	ENSP00000267101:D297Y	D	+	1	0	ERBB3	54768608	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.173000	0.94815	2.706000	0.92434	0.563000	0.77884	GAT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				41	169	1	0	4.0181e-32	0.01441	4.65187e-32	41	169		
CS	1431	broad.mit.edu	37	12	56667506	56667506	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56667506C>T	ENST00000351328.3	-	10	1285	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	CS_ENST00000542324.2_Silent_p.L352L|CS_ENST00000548567.1_Silent_p.L299L	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	365					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCAGGTGTTTCAGAGCAAACT	0.468																																						uc001sks.1		NaN																	0					0						c.(1093-1095)CTG>CTA		citrate synthase precursor							128.0	116.0	120.0					12																	56667506		2203	4300	6503	SO:0001819	synonymous_variant	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667506C>T		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1095G>A	12.37:g.56667506C>T						CS_uc010sql.1_Silent_p.L352L|CS_uc001skr.1_Silent_p.L299L|CS_uc001skt.1_Silent_p.L320L|CS_uc010sqm.1_3'UTR	p.L365L	NM_004077	NP_004068	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	10	1285	-		Myeloproliferative disorder(1001;0.000374)	365					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	c.1095G>A	CCDS8913.1																																																																																				0.468	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2		NM_004077		25	86	0	0	0	0.009535	0	25	86		
GLIPR1	11010	broad.mit.edu	37	12	75875733	75875733	+	Missense_Mutation	SNP	G	G	C	rs543406828		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:75875733G>C	ENST00000266659.3	+	2	495	c.294G>C	c.(292-294)gaG>gaC	p.E98D	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	98	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CACTGGGAGAGAACATCTGGA	0.483																																						uc001sxs.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(292-294)GAG>GAC		GLI pathogenesis-related 1 precursor							126.0	110.0	116.0					12																	75875733		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875733G>C	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.294G>C	12.37:g.75875733G>C	ENSP00000266659:p.Glu98Asp					GLIPR1_uc009zsb.1_Missense_Mutation_p.E98D	p.E98D	NM_006851	NP_006842	P48060	GLIP1_HUMAN			2	442	+			98					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.294G>C	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026984	0.75390	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.56776	0.44;0.44	5.8	0.527	0.17084	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	H	0.99415	4.555	0.53005	D	0.99996	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.82313	-0.0519	10	0.72032	D	0.01	.	9.4099	0.38485	0.7269:0.0:0.2731:0.0	.	98;98	F6VVE8;P48060	.;GLIP1_HUMAN	D	98	ENSP00000266659:E98D;ENSP00000391144:E98D	ENSP00000266659:E98D	E	+	3	2	GLIPR1	74162000	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	1.676000	0.37565	0.106000	0.17784	-0.238000	0.12139	GAG		0.483	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1		NM_006851		19	78	0	0	0	0.01892	0	19	78		
NAV3	89795	broad.mit.edu	37	12	78513485	78513485	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:78513485C>G	ENST00000397909.2	+	15	3682	c.3509C>G	c.(3508-3510)tCt>tGt	p.S1170C	NAV3_ENST00000536525.2_Missense_Mutation_p.S1170C|NAV3_ENST00000266692.7_Missense_Mutation_p.S1170C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1170C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1170	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCAGCAAGTCTGCTGGGGCC	0.537										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3508-3510)TCT>TGT		neuron navigator 3							66.0	70.0	69.0					12																	78513485		1949	4128	6077	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513485C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3509C>G	12.37:g.78513485C>G	ENSP00000381007:p.Ser1170Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1170C|NAV3_uc010sub.1_Missense_Mutation_p.S670C|NAV3_uc009zsf.2_Missense_Mutation_p.S178C	p.S1170C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3682	+			1170			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3509C>G		.	.	.	.	.	.	.	.	.	.	C	24.2	4.508805	0.85282	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.55	5.55	0.83447	.	0.000000	0.37178	U	0.002202	T	0.56848	0.2013	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.992;0.931;0.98	T	0.58584	-0.7611	10	0.87932	D	0	-11.4068	19.5083	0.95130	0.0:1.0:0.0:0.0	.	1170;1170;1170;1170	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	C	1170	ENSP00000446132:S1170C;ENSP00000381007:S1170C;ENSP00000228327:S1170C;ENSP00000266692:S1170C	ENSP00000228327:S1170C	S	+	2	0	NAV3	77037616	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	7.594000	0.82698	2.600000	0.87896	0.655000	0.94253	TCT		0.537	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		8	41	0	0	0	0.004482	0	8	41		
ACSS3	79611	broad.mit.edu	37	12	81503360	81503360	+	Silent	SNP	C	C	T	rs548439952		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAATGCTTAACATTTGTTACA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0					uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(331-333)AAC>AAT		acyl-CoA synthetase short-chain family member 3							96.0	95.0	96.0					12																	81503360		2203	4299	6502	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503360C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.333C>T	12.37:g.81503360C>T						ACSS3_uc001szm.1_Silent_p.N110N	p.N111N	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			2	424	+			111					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.333C>T	CCDS9022.1																																																																																				0.313	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		7	61	0	0	0	0.006214	0	7	61		
TMTC3	160418	broad.mit.edu	37	12	88584258	88584258	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:88584258G>A	ENST00000266712.6	+	12	1785	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	522					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TATGCAGCCAGAATTGCCCCT	0.373																																						uc001tau.2		NaN																	0				skin(1)	1						c.(1564-1566)AGA>AAA		transmembrane and tetratricopeptide repeat							66.0	64.0	65.0					12																	88584258		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88584258G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1565G>A	12.37:g.88584258G>A	ENSP00000266712:p.Arg522Lys						p.R522K	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			12	1785	+			522					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1565G>A	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560177	0.96527	.	.	ENSG00000139324	ENST00000266712	T	0.54071	0.59	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	L	0.32530	0.975	0.80722	D	1	P	0.50710	0.938	P	0.56088	0.791	T	0.55198	-0.8178	10	0.34782	T	0.22	-22.7211	18.5956	0.91228	0.0:0.0:1.0:0.0	.	522	Q6ZXV5-2	.	K	522	ENSP00000266712:R522K	ENSP00000266712:R522K	R	+	2	0	TMTC3	87108389	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.753000	0.98904	2.465000	0.83290	0.591000	0.81541	AGA		0.373	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1		NM_181783		11	68	0	0	0	0.028581	0	11	68		
MTERF2	80298	broad.mit.edu	37	12	107372423	107372423	+	Missense_Mutation	SNP	G	G	C	rs139694986	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:107372423G>C	ENST00000552029.1	-	2	2138	c.70C>G	c.(70-72)Cca>Gca	p.P24A	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P24A|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P24A			Q49AM1	MTEF2_HUMAN		24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGTATTTTGGAGGTGATCGC	0.433													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16654	0.0		0.0	False		,,,				2504	0.0					uc001tme.1		NaN																	0					0						c.(70-72)CCA>GCA		transcription termination factor-like protein		G	ALA/PRO,ALA/PRO	15,4391	21.2+/-45.6	0,15,2188	85.0	81.0	82.0		70,70	1.8	0.0	12	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	MTERFD3	NM_001033050.1,NM_025198.3	27,27	0,15,6488	CC,CG,GG		0.0,0.3404,0.1153	benign,benign	24/386,24/386	107372423	15,12991	2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372423G>C																												ENST00000552029.1:c.70C>G	12.37:g.107372423G>C	ENSP00000447651:p.Pro24Ala					MTERFD3_uc001tmf.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmg.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmh.1_Missense_Mutation_p.P24A	p.P24A	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	1889	-			24					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.70C>G	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224619	0.06061	0.003404	0.0	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101;ENST00000550736;ENST00000550496	T;T;T;T;T;T	0.69685	2.83;2.83;2.83;2.04;2.03;-0.42	5.7	1.8	0.24995	.	0.928181	0.09005	N	0.862426	T	0.53481	0.1799	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34279	-0.9835	10	0.14656	T	0.56	-2.0942	10.1435	0.42749	0.3086:0.0:0.6914:0.0	.	24	Q49AM1	MTER3_HUMAN	A	24	ENSP00000376575:P24A;ENSP00000240050:P24A;ENSP00000447651:P24A;ENSP00000448343:P24A;ENSP00000448854:P24A;ENSP00000448246:P24A	ENSP00000240050:P24A	P	-	1	0	MTERFD3	105896553	0.037000	0.19845	0.002000	0.10522	0.107000	0.19398	0.477000	0.22196	0.487000	0.27698	0.460000	0.39030	CCA		0.433	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1				6	47	0	0	0	0.021553	0	6	47		
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:109702924G>C	ENST00000338432.7	+	51	7071	c.6952G>C	c.(6952-6954)Gag>Cag	p.E2318Q	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E2248Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E2318Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2318					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E2318*(1)|p.E2318Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647																																						uc001tob.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6952-6954)GAG>CAG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						75.0	74.0	74.0					12																	109702924		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109702924G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6952G>C	12.37:g.109702924G>C	ENSP00000341044:p.Glu2318Gln					ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q	p.E2318Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			51	7071	+			2318					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6952G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915102	0.52546	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.31769	1.48;1.48;1.48	3.9	3.9	0.45041	Carboxyl transferase (1);	0.301586	0.35179	N	0.003383	T	0.26195	0.0639	L	0.43152	1.355	0.80722	D	1	B	0.18310	0.027	B	0.21360	0.034	T	0.05533	-1.0879	10	0.24483	T	0.36	.	13.4395	0.61104	0.0:0.1588:0.8411:0.0	.	2318	O00763	ACACB_HUMAN	Q	2318;2318;2248;1549;12	ENSP00000341044:E2318Q;ENSP00000367079:E2318Q;ENSP00000367085:E2248Q	ENSP00000341044:E2318Q	E	+	1	0	ACACB	108187307	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.689000	0.84165	2.122000	0.65172	0.555000	0.69702	GAG		0.647	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		51	131	0	0	0	0.01441	0	51	131		
GCN1L1	10985	broad.mit.edu	37	12	120576588	120576588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:120576588C>T	ENST00000300648.6	-	46	6079	c.6067G>A	c.(6067-6069)Gag>Aag	p.E2023K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2023					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGCCGCCTCTCTGACCTCC	0.547																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(6067-6069)GAG>AAG		GCN1 general control of amino-acid synthesis							141.0	150.0	147.0					12																	120576588		2039	4211	6250	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120576588C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6067G>A	12.37:g.120576588C>T	ENSP00000300648:p.Glu2023Lys						p.E2023K	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			46	6080	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2023			HEAT 17.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6067G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617302	0.87359	.	.	ENSG00000089154	ENST00000300648	T	0.65364	-0.15	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.120508	0.56097	D	0.000032	T	0.66674	0.2813	M	0.72118	2.19	0.80722	D	1	B	0.25441	0.126	B	0.26770	0.073	T	0.64123	-0.6481	10	0.59425	D	0.04	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	2023	Q92616	GCN1L_HUMAN	K	2023	ENSP00000300648:E2023K	ENSP00000300648:E2023K	E	-	1	0	GCN1L1	119060971	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.188000	0.77739	2.824000	0.97209	0.655000	0.94253	GAG		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				63	151	0	0	0	0.01441	0	63	151		
RILPL1	353116	broad.mit.edu	37	12	123970241	123970241	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:123970241C>T	ENST00000376874.4	-	5	1148	c.913G>A	c.(913-915)Gag>Aag	p.E305K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E153K|RILPL1_ENST00000544468.1_5'Flank	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	305	RILP-like.				epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCGTTCCTCTCGTGCAGCACG	0.622																																						uc001ufe.2		NaN																	0					0						c.(913-915)GAG>AAG		Rab interacting lysosomal protein-like 1							54.0	57.0	56.0					12																	123970241		2108	4222	6330	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123970241C>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.913G>A	12.37:g.123970241C>T	ENSP00000366070:p.Glu305Lys					RILPL1_uc001ufd.2_Missense_Mutation_p.E154K|RILPL1_uc010tas.1_Missense_Mutation_p.E305K	p.E305K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	5	1149	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		305			RILP-like.		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.913G>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477423	0.96291	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	D;D	0.82711	-1.64;-1.64	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.975	D	0.93294	0.6671	10	0.72032	D	0.01	-14.8626	17.3711	0.87377	0.0:1.0:0.0:0.0	.	281;305;154	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	K	305;153	ENSP00000366070:E305K;ENSP00000345874:E153K	ENSP00000345874:E153K	E	-	1	0	RILPL1	122536194	1.000000	0.71417	0.960000	0.40013	0.904000	0.53231	7.564000	0.82326	2.189000	0.69895	0.491000	0.48974	GAG		0.622	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1		NM_178314		6	47	0	0	0	0.004482	0	6	47		
TMEM132B	114795	broad.mit.edu	37	12	125834138	125834138	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:125834138A>G	ENST00000299308.3	+	2	201	c.193A>G	c.(193-195)Agt>Ggt	p.S65G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	65						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAACTCCAGTCTGCAGGC	0.522																																						uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(193-195)AGT>GGT		transmembrane protein 132B							110.0	112.0	112.0					12																	125834138		1905	4136	6041	SO:0001583	missense	114795					integral to membrane		g.chr12:125834138A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.193A>G	12.37:g.125834138A>G	ENSP00000299308:p.Ser65Gly						p.S65G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	201	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		65			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.193A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475643	0.84640	.	.	ENSG00000139364	ENST00000299308	T	0.18502	2.21	5.41	5.41	0.78517	.	.	.	.	.	T	0.42832	0.1220	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.41431	-0.9509	9	0.87932	D	0	.	15.4399	0.75176	1.0:0.0:0.0:0.0	.	65	Q14DG7	T132B_HUMAN	G	65	ENSP00000299308:S65G	ENSP00000299308:S65G	S	+	1	0	TMEM132B	124400091	1.000000	0.71417	0.990000	0.47175	0.857000	0.48899	8.991000	0.93514	2.034000	0.60081	0.482000	0.46254	AGT		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		22	137	0	0	0	0.037714	0	22	137		
POLE	5426	broad.mit.edu	37	12	133252767	133252767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133252767C>G	ENST00000320574.5	-	10	976	c.933G>C	c.(931-933)gaG>gaC	p.E311D	POLE_ENST00000535270.1_Missense_Mutation_p.E284D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	311					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGAAACAATCTCCCTGTTGG	0.478								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(931-933)GAG>GAC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							73.0	74.0	73.0					12																	133252767		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133252767C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.933G>C	12.37:g.133252767C>G	ENSP00000322570:p.Glu311Asp					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E284D	p.E311D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	10	977	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	311					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.933G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265903	0.80358	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.45668	4.69;4.69;4.69;0.89	5.81	4.91	0.64330	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.75264	2.295	0.58432	D	0.999994	P;P	0.44627	0.839;0.757	P;P	0.53266	0.673;0.722	T	0.59736	-0.7398	10	0.62326	D	0.03	.	11.262	0.49089	0.0:0.859:0.0:0.141	.	284;311	F5H1D6;Q07864	.;DPOE1_HUMAN	D	311;322;284;91;246	ENSP00000322570:E311D;ENSP00000406383:E322D;ENSP00000445753:E284D;ENSP00000442519:E91D	ENSP00000322570:E311D	E	-	3	2	POLE	131762840	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.612000	0.46343	1.428000	0.47296	0.655000	0.94253	GAG		0.478	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		7	68	0	0	0	0.004482	0	7	68		
CHFR	55743	broad.mit.edu	37	12	133433181	133433181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133433181C>G	ENST00000432561.2	-	10	1211	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	CHFR_ENST00000443047.2_Missense_Mutation_p.D288H|CHFR_ENST00000315585.7_Missense_Mutation_p.D339H|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.D2H|CHFR_ENST00000450056.2_Missense_Mutation_p.D368H|CHFR_ENST00000266880.7_Missense_Mutation_p.D380H			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	380					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TTTCTGGCATCCATACTTTGC	0.493																																						uc001ulf.2		NaN																	0				skin(1)	1						c.(1138-1140)GAT>CAT		checkpoint with forkhead and ring finger domains							310.0	303.0	305.0					12																	133433181		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133433181C>G	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1138G>C	12.37:g.133433181C>G	ENSP00000392395:p.Asp380His					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D368H|CHFR_uc010tbs.1_Missense_Mutation_p.D380H|CHFR_uc001uld.2_Missense_Mutation_p.D339H|CHFR_uc010tbt.1_Missense_Mutation_p.D288H	p.D380H	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	10	1222	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	380					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.1138G>C	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317478	0.81469	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.36699	2.25;2.04;2.23;1.98;1.24;2.25	5.73	4.85	0.62838	.	0.093996	0.64402	D	0.000001	T	0.53481	0.1799	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.996;0.993;0.996;0.996	D;D;D;D;D	0.70016	0.931;0.967;0.928;0.952;0.952	T	0.56649	-0.7944	10	0.72032	D	0.01	-19.0221	14.6945	0.69110	0.0:0.9306:0.0:0.0694	.	288;380;380;368;339	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	H	339;288;368;380;2;180;380	ENSP00000320557:D339H;ENSP00000416431:D288H;ENSP00000398735:D368H;ENSP00000266880:D380H;ENSP00000442327:D2H;ENSP00000392395:D380H	ENSP00000266880:D380H	D	-	1	0	CHFR	131943254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.585000	0.67497	1.434000	0.47414	0.655000	0.94253	GAT		0.493	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2				61	199	0	0	0	0.01441	0	61	199		
IFT88	8100	broad.mit.edu	37	13	21212522	21212522	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:21212522G>C	ENST00000319980.6	+	19	1792	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H	IFT88_ENST00000537103.1_Missense_Mutation_p.D461H|IFT88_ENST00000382778.4_Missense_Mutation_p.D489H|IFT88_ENST00000351808.5_Missense_Mutation_p.D480H	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	489					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGTGAACTCTGATAGATATAA	0.338																																						uc001unh.2		NaN																	0				ovary(1)	1						c.(1465-1467)GAT>CAT		intraflagellar transport 88 homolog isoform 1							86.0	91.0	89.0					13																	21212522		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21212522G>C	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1465G>C	13.37:g.21212522G>C	ENSP00000323580:p.Asp489His					IFT88_uc001uni.2_Missense_Mutation_p.D480H|IFT88_uc001unj.2_Missense_Mutation_p.D479H|IFT88_uc010tcq.1_Missense_Mutation_p.D460H|IFT88_uc001unk.2_Missense_Mutation_p.D235H	p.D489H	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	19	1861	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	489			TPR 6.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1465G>C	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234283	0.79688	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.79454	-1.27;0.54;0.54;0.54	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049341	0.85682	D	0.000000	D	0.89612	0.6765	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.956	D	0.90029	0.4133	10	0.66056	D	0.02	-29.9098	19.9277	0.97108	0.0:0.0:1.0:0.0	.	461;287;489	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	H	489;352;480;489;461	ENSP00000372228:D489H;ENSP00000261632:D480H;ENSP00000323580:D489H;ENSP00000437719:D461H	ENSP00000323580:D489H	D	+	1	0	IFT88	20110522	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.374000	0.79633	2.710000	0.92621	0.561000	0.74099	GAT		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3		NM_006531		10	108	0	0	0	0.020292	0	10	108		
FRY	10129	broad.mit.edu	37	13	32841395	32841395	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:32841395G>A	ENST00000380250.3	+	55	8531	c.8035G>A	c.(8035-8037)Gat>Aat	p.D2679N	FRY_ENST00000542859.1_Missense_Mutation_p.D49N	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2679						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCTGTGACGATGCCGAGGA	0.547																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(8035-8037)GAT>AAT		furry homolog							100.0	108.0	105.0					13																	32841395		2073	4214	6287	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841395G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8035G>A	13.37:g.32841395G>A	ENSP00000369600:p.Asp2679Asn					FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.D234N|FRY_uc001utz.2_Missense_Mutation_p.D204N|FRY_uc010tdx.1_Missense_Mutation_p.D49N	p.D2679N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8531	+		Lung SC(185;0.0271)	2679					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8035G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012073	0.75046	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.26957	1.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	M	0.63428	1.95	0.80722	D	1	B;B	0.30973	0.302;0.023	B;B	0.19946	0.027;0.008	T	0.09443	-1.0674	10	0.66056	D	0.02	.	19.4344	0.94785	0.0:0.0:1.0:0.0	.	460;2679	Q8NB82;Q5TBA9	.;FRY_HUMAN	N	2679;323;49	ENSP00000369600:D2679N	ENSP00000369567:D323N	D	+	1	0	FRY	31739395	1.000000	0.71417	0.906000	0.35671	0.647000	0.38526	9.437000	0.97535	2.600000	0.87896	0.650000	0.86243	GAT		0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		25	118	0	0	0	0.01892	0	25	118		
MED4	29079	broad.mit.edu	37	13	48660459	48660459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:48660459G>A	ENST00000258648.2	-	3	347	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	MED4_ENST00000378586.1_Nonsense_Mutation_p.Q62*	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	108					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TGTAGCTGCTGAATATCACTG	0.338																																					Pancreas(38;399 1016 9170 13426 20145)	uc001vby.1		NaN																	0				ovary(1)	1						c.(322-324)CAG>TAG		mediator complex subunit 4							208.0	199.0	202.0					13																	48660459		2203	4300	6503	SO:0001587	stop_gained	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48660459G>A	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.322C>T	13.37:g.48660459G>A	ENSP00000258648:p.Gln108*					MED4_uc010tge.1_Nonsense_Mutation_p.Q108*|MED4_uc010tgf.1_Nonsense_Mutation_p.Q62*	p.Q108*	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	3	348	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	108			Potential.		B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Nonsense_Mutation	SNP	ENST00000258648.2	37	c.322C>T	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228637	0.95173	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-18.8388	18.2025	0.89843	0.0:0.0:1.0:0.0	.	.	.	.	X	108;86;62;86	.	ENSP00000258648:Q108X	Q	-	1	0	MED4	47558460	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.662000	0.91130	2.545000	0.85829	0.305000	0.20034	CAG		0.338	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1		NM_014166		18	99	0	0	0	0.012319	0	18	99		
RB1	5925	broad.mit.edu	37	13	49027133	49027133	+	Missense_Mutation	SNP	C	C	T	rs137853292		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027133C>T	ENST00000267163.4	+	18	1838	c.1700C>T	c.(1699-1701)tCa>tTa	p.S567L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB). {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:2594029}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.S567*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATATAGGATTCACCTTTATTT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		27	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(2)	p.?(6)|p.S567*(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM900193	RB1	M	rs137853292	c.(1699-1701)TCA>TTA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	97.0	98.0					13																	49027133		2203	4300	6503	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49027133C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1700C>T	13.37:g.49027133C>T	ENSP00000267163:p.Ser567Leu	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S567L	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	18	1866	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	567		S -> L (in RB).	Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1700C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093751	0.94149	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92446	-3.04	5.75	5.75	0.90469	Retinoblastoma-associated protein, A-box (1);Cyclin-like (1);	0.069742	0.64402	D	0.000011	D	0.96999	0.9020	M	0.89785	3.06	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97314	0.9939	9	0.87932	D	0	.	19.5489	0.95310	0.0:1.0:0.0:0.0	.	567	P06400	RB_HUMAN	L	546;567	ENSP00000267163:S567L	ENSP00000267163:S567L	S	+	2	0	RB1	47925134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.149000	0.71795	2.717000	0.92951	0.655000	0.94253	TCA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				16	34	0	0	0	0.0333	0	16	34		
RB1	5925	broad.mit.edu	37	13	49027219	49027219	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027219C>G	ENST00000267163.4	+	18	1924	c.1786C>G	c.(1786-1788)Ctc>Gtc	p.L596V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	596	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAATCTTCCTCTCCAGAATAA	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(10)	p.?(6)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1786-1788)CTC>GTC		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	100.0	102.0					13																	49027219		2203	4300	6503	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49027219C>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1786C>G	13.37:g.49027219C>G	ENSP00000267163:p.Leu596Val	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L596V	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	18	1952	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	596			Pocket; binds T and E1A.|Spacer.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1786C>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172641	0.21704	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92199	-2.99	5.75	3.77	0.43336	.	0.170380	0.45361	D	0.000371	D	0.86539	0.5957	L	0.58810	1.83	0.46437	D	0.999049	B	0.29766	0.256	B	0.23018	0.043	T	0.78894	-0.2024	10	0.31617	T	0.26	.	4.1425	0.10200	0.14:0.4972:0.2673:0.0955	.	596	P06400	RB_HUMAN	V	575;596	ENSP00000267163:L596V	ENSP00000267163:L596V	L	+	1	0	RB1	47925220	0.994000	0.37717	0.997000	0.53966	0.996000	0.88848	0.382000	0.20635	0.579000	0.29504	0.655000	0.94253	CTC		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				27	50	0	0	0	0.010818	0	27	50		
OLFM4	10562	broad.mit.edu	37	13	53602986	53602986	+	Silent	SNP	C	C	T	rs149259735	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:53602986C>T	ENST00000219022.2	+	1	93	c.15C>T	c.(13-15)ctC>ctT	p.L5L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	5					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GGCCCGGCCTCTCATTTCTCC	0.592																																						uc001vhl.2		NaN																	0				skin(1)	1						c.(13-15)CTC>CTT		olfactomedin 4 precursor		C		1,4405	2.1+/-5.4	0,1,2202	97.0	98.0	98.0		15	-0.1	0.0	13	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OLFM4	NM_006418.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		5/511	53602986	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53602986C>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.15C>T	13.37:g.53602986C>T						OLFM4_uc001vhk.1_Silent_p.L5L	p.L5L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	15	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	5					O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.15C>T	CCDS9440.1																																																																																				0.592	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418		56	121	0	0	0	0.01441	0	56	121		
MYCBP2	23077	broad.mit.edu	37	13	77786175	77786175	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:77786175G>T	ENST00000544440.2	-	22	3081	c.3064C>A	c.(3064-3066)Caa>Aaa	p.Q1022K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q1022K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Q1060K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAAAAAGTTTGGTCCCCACTT	0.358																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(3064-3066)CAA>AAA		MYC binding protein 2							118.0	112.0	114.0					13																	77786175		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77786175G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3064C>A	13.37:g.77786175G>T	ENSP00000444596:p.Gln1022Lys					MYCBP2_uc010aev.2_Missense_Mutation_p.Q426K	p.Q1022K	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	23	3155	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1022			RCC1 5.			Missense_Mutation	SNP	ENST00000544440.2	37	c.3064C>A		.	.	.	.	.	.	.	.	.	.	G	18.71	3.681325	0.68042	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.80566	-1.39;-1.39;-1.39	4.97	4.97	0.65823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	M	0.69358	2.11	0.58432	D	0.999999	P	0.40332	0.713	P	0.51742	0.678	D	0.87350	0.2337	10	0.59425	D	0.04	.	18.5911	0.91212	0.0:0.0:1.0:0.0	.	1022	O75592	MYCB2_HUMAN	K	1022;1060;1022	ENSP00000349892:Q1022K;ENSP00000384288:Q1060K;ENSP00000444596:Q1022K	ENSP00000349892:Q1022K	Q	-	1	0	MYCBP2	76684176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.416000	0.97383	2.435000	0.82474	0.563000	0.77884	CAA		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		5	57	1	0	0.000602214	0.014758	0.000617354	5	57		
ADCY4	196883	broad.mit.edu	37	14	24801042	24801042	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:24801042G>T	ENST00000310677.4	-	5	734	c.621C>A	c.(619-621)ctC>ctA	p.L207L	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Silent_p.L207L|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000418030.2_Silent_p.L207L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	207					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGGGAGCTGAGTGCCTCCC	0.657																																						uc001wov.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(619-621)CTC>CTA		adenylate cyclase 4							27.0	28.0	28.0					14																	24801042		2201	4300	6501	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801042G>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.621C>A	14.37:g.24801042G>T						ADCY4_uc001wow.2_Silent_p.L207L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.L207L|ADCY4_uc001woy.2_Silent_p.L207L	p.L207L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	4	627	-			207			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.621C>A	CCDS9627.1																																																																																				0.657	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4				4	30	1	0	5.9392e-07	0.021553	6.31793e-07	4	30		
NFKBIA	4792	broad.mit.edu	37	14	35873730	35873730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:35873730C>T	ENST00000216797.5	-	1	222	c.121G>A	c.(121-123)Gag>Aag	p.E41K	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E41K|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_5'Flank	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	41					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TGCTCGTACTCCTCGTCTTTC	0.687																																						uc001wtf.3		NaN																	0				breast(2)	2						c.(121-123)GAG>AAG		nuclear factor of kappa light polypeptide gene							21.0	21.0	21.0					14																	35873730		2203	4299	6502	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35873730C>T		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.121G>A	14.37:g.35873730C>T	ENSP00000216797:p.Glu41Lys					NFKBIA_uc001wte.3_5'Flank|NFKBIA_uc001wtg.3_Missense_Mutation_p.E41K|NFKBIA_uc010amo.2_RNA	p.E41K	NM_020529	NP_065390	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	1	231	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		41					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.121G>A	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409045	0.62399	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.80480	0.83;0.69;-1.38	3.87	3.87	0.44632	.	.	.	.	.	T	0.77579	0.4151	M	0.64997	1.995	0.80722	D	1	P;P	0.37370	0.592;0.457	B;B	0.33750	0.169;0.081	T	0.80493	-0.1358	9	0.49607	T	0.09	-12.9117	16.1623	0.81730	0.0:1.0:0.0:0.0	.	41;41	G3V3I4;P25963	.;IKBA_HUMAN	K	41	ENSP00000216797:E41K;ENSP00000451257:E41K;ENSP00000451281:E41K	ENSP00000216797:E41K	E	-	1	0	NFKBIA	34943481	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.104000	0.77024	1.853000	0.53794	0.313000	0.20887	GAG		0.687	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1		NM_020529		6	16	0	0	0	0.021553	0	6	16		
TXNDC16	57544	broad.mit.edu	37	14	52922155	52922155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:52922155G>A	ENST00000281741.4	-	18	2100	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	577					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGCAGGGCTGGAAGACTTGCA	0.418																																						uc001wzs.2		NaN																	0					0						c.(1729-1731)CCA>TCA		thioredoxin domain containing 16 isoform 1							193.0	161.0	172.0					14																	52922155		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52922155G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1729C>T	14.37:g.52922155G>A	ENSP00000281741:p.Pro577Ser					TXNDC16_uc010tqu.1_Missense_Mutation_p.P572S|TXNDC16_uc010aoe.2_RNA	p.P577S	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			18	2178	-	Breast(41;0.0716)		577					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1729C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275203	0.80580	.	.	ENSG00000087301	ENST00000281741	T	0.36340	1.26	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.983	T	0.56792	-0.7920	10	0.37606	T	0.19	-43.6283	15.0728	0.72053	0.0:0.0:1.0:0.0	.	572;577	B7ZME4;Q9P2K2	.;TXD16_HUMAN	S	577	ENSP00000281741:P577S	ENSP00000281741:P577S	P	-	1	0	TXNDC16	51991905	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	5.038000	0.64177	2.407000	0.81776	0.563000	0.77884	CCA		0.418	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1		XM_051699		57	54	0	0	0	0.01441	0	57	54		
DLGAP5	9787	broad.mit.edu	37	14	55618599	55618599	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:55618599G>C	ENST00000247191.2	-	17	2398	c.2182C>G	c.(2182-2184)Ctt>Gtt	p.L728V	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L728V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	728					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAGCAAGAAGAGGCAAACTC	0.328																																						uc001xbs.2		NaN																	0				ovary(1)|skin(1)	2						c.(2182-2184)CTT>GTT		discs large homolog 7 isoform a							88.0	84.0	85.0					14																	55618599		2203	4299	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618599G>C	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2182C>G	14.37:g.55618599G>C	ENSP00000247191:p.Leu728Val					DLGAP5_uc001xbt.2_Missense_Mutation_p.L728V	p.L728V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			17	2399	-			728					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2182C>G	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354137	0.24512	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.29655	1.56;1.56	4.53	3.64	0.41730	.	1.477680	0.04273	N	0.342452	T	0.26666	0.0652	L	0.34521	1.04	0.09310	N	1	P;P	0.52316	0.952;0.622	B;B	0.38106	0.265;0.112	T	0.34527	-0.9825	10	0.52906	T	0.07	.	11.2052	0.48765	0.0932:0.0:0.9068:0.0	.	728;728	A8MTM6;Q15398	.;DLGP5_HUMAN	V	728	ENSP00000378815:L728V;ENSP00000247191:L728V	ENSP00000247191:L728V	L	-	1	0	DLGAP5	54688352	0.365000	0.25006	0.024000	0.17045	0.676000	0.39594	1.684000	0.37649	1.214000	0.43395	0.655000	0.94253	CTT		0.328	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750		43	43	0	0	0	0.011902	0	43	43		
DAAM1	23002	broad.mit.edu	37	14	59835468	59835468	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:59835468G>T	ENST00000395125.1	+	25	3151	c.3128G>T	c.(3127-3129)gGa>gTa	p.G1043V	DAAM1_ENST00000360909.3_Missense_Mutation_p.G1033V|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.G1043V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1043	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTACGCTCAGGAGAAGTGTTT	0.403																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(3127-3129)GGA>GTA		dishevelled-associated activator of							123.0	116.0	119.0					14																	59835468		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835468G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3128G>T	14.37:g.59835468G>T	ENSP00000378557:p.Gly1043Val					DAAM1_uc001xea.1_Missense_Mutation_p.G1033V|DAAM1_uc001xec.1_RNA	p.G1043V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	26	3253	+			1043			DAD.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3128G>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383300	0.82792	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.81579	-1.5;-1.51;-1.51	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.90356	0.6982	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90907	0.4773	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1033;1043	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	1033;1043;1043	ENSP00000354162:G1033V;ENSP00000247170:G1043V;ENSP00000378557:G1043V	ENSP00000247170:G1043V	G	+	2	0	DAAM1	58905221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	GGA		0.403	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		38	27	1	0	2.54651e-27	0.027894	2.92968e-27	38	27		
MTMR10	54893	broad.mit.edu	37	15	31233969	31233969	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:31233969G>A	ENST00000435680.1	-	16	2135	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	680							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GAGAGCTTGTGAAAGGCTGTG	0.602																																						uc001zfh.1		NaN																	0				ovary(1)	1						c.(2038-2040)CAC>TAC		myotubularin related protein 10							51.0	53.0	52.0					15																	31233969		2031	4184	6215	SO:0001583	missense	54893						phosphatase activity	g.chr15:31233969G>A	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.2038C>T	15.37:g.31233969G>A	ENSP00000402537:p.His680Tyr					MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.H94Y|MTMR10_uc001zfg.1_Missense_Mutation_p.H261Y|MTMR10_uc010azx.1_Missense_Mutation_p.H432Y|MTMR10_uc001zfi.1_3'UTR	p.H680Y	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	2136	-		all_lung(180;2.81e-11)	680					Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.2038C>T	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433658	0.83776	.	.	ENSG00000166912	ENST00000435680	T	0.44083	0.93	5.48	5.48	0.80851	.	.	.	.	.	T	0.55625	0.1932	M	0.69823	2.125	0.80722	D	1	D	0.53619	0.961	P	0.56865	0.808	T	0.54022	-0.8355	9	0.02654	T	1	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	680	Q9NXD2	MTMRA_HUMAN	Y	680	ENSP00000402537:H680Y	ENSP00000402537:H680Y	H	-	1	0	MTMR10	29021261	1.000000	0.71417	0.999000	0.59377	0.669000	0.39330	9.221000	0.95188	2.575000	0.86900	0.655000	0.94253	CAC		0.602	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1		NM_017762		14	19	0	0	0	0.028581	0	14	19		
STRC	161497	broad.mit.edu	37	15	43910137	43910137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:43910137C>T	ENST00000450892.2	-	2	559	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	161					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATCACGGGTGCATGGGGGCCG	0.637																																						uc001zsf.2		NaN																	0					0						c.(481-483)TGC>TAC		stereocilin precursor							63.0	88.0	79.0					15																	43910137		2197	4296	6493	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43910137C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.482G>A	15.37:g.43910137C>T	ENSP00000401513:p.Cys161Tyr					STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Missense_Mutation_p.C87Y	p.C161Y	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	560	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	161						Missense_Mutation	SNP	ENST00000450892.2	37	c.482G>A	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628393	0.46944	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	D	0.89810	-2.57	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	D	0.90943	0.7153	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.91921	0.5547	10	0.87932	D	0	-7.8866	13.9904	0.64362	0.0:1.0:0.0:0.0	.	161;161	E9PBT5;Q7RTU9	.;STRC_HUMAN	Y	161;161;161;101	ENSP00000401513:C161Y	ENSP00000299992:C161Y	C	-	2	0	STRC	41697429	0.996000	0.38824	0.919000	0.36401	0.260000	0.26232	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	TGC		0.637	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1		NM_153700		13	122	0	0	0	0.007413	0	13	122		
SEMA6D	80031	broad.mit.edu	37	15	48052505	48052505	+	Silent	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:48052505A>T	ENST00000316364.5	+	3	553	c.114A>T	c.(112-114)tcA>tcT	p.S38S	SEMA6D_ENST00000536845.2_Silent_p.S38S|SEMA6D_ENST00000389433.2_Silent_p.S38S|SEMA6D_ENST00000389432.2_Silent_p.S38S|SEMA6D_ENST00000389425.3_Silent_p.S38S|SEMA6D_ENST00000358066.4_Silent_p.S38S|SEMA6D_ENST00000537942.1_Silent_p.S38S|SEMA6D_ENST00000389428.3_Silent_p.S38S|SEMA6D_ENST00000355997.3_Silent_p.S38S|SEMA6D_ENST00000354744.4_Silent_p.S38S|SEMA6D_ENST00000558014.1_Silent_p.S38S|SEMA6D_ENST00000558816.1_Silent_p.S38S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	38	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTGCAGATTCAAGGCAATATC	0.413																																						uc010bek.2		NaN																	0				skin(3)|breast(1)	4						c.(112-114)TCA>TCT		semaphorin 6D isoform 4 precursor							96.0	86.0	89.0					15																	48052505		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052505A>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.114A>T	15.37:g.48052505A>T						SEMA6D_uc001zvw.2_Silent_p.S38S|SEMA6D_uc001zvx.1_Silent_p.S38S|SEMA6D_uc001zvy.2_Silent_p.S38S|SEMA6D_uc001zvz.2_Silent_p.S38S|SEMA6D_uc001zwa.2_Silent_p.S38S|SEMA6D_uc001zwb.2_Silent_p.S38S|SEMA6D_uc001zwc.2_Silent_p.S38S	p.S38S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	3	474	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	38			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.114A>T	CCDS32225.1																																																																																				0.413	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966		11	54	0	0	0	0.010729	0	11	54		
ITGA11	22801	broad.mit.edu	37	15	68649637	68649637	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:68649637C>A	ENST00000315757.7	-	7	687	c.601G>T	c.(601-603)Gtt>Ttt	p.V201F	ITGA11_ENST00000423218.2_Splice_Site_p.V201F|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	201	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ACAACTCCAACCTGCAAGGGA	0.498																																						uc002ari.2		NaN																	0				kidney(2)|pancreas(1)	3						c.(601-603)GTT>TTT		integrin, alpha 11 precursor	Tirofiban(DB00775)						81.0	83.0	82.0					15																	68649637		2060	4200	6260	SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68649637C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.601-1G>T	15.37:g.68649637C>A						ITGA11_uc010bib.2_Missense_Mutation_p.V201F	p.V201F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			7	688	-			201			VWFA.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.601G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680953	0.68042	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.86865	-2.18;-2.18	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.85499	0.1190	10	0.02654	T	1	.	17.5009	0.87731	0.0:1.0:0.0:0.0	.	201;201	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	201	ENSP00000327290:V201F;ENSP00000403392:V201F	ENSP00000327290:V201F	V	-	1	0	ITGA11	66436691	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.770000	0.85390	2.368000	0.80403	0.561000	0.74099	GTT		0.498	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211	Missense_Mutation	17	76	1	0	2.27525e-19	0.021523	2.5852e-19	17	76		
PTPN9	5780	broad.mit.edu	37	15	75819584	75819584	+	Missense_Mutation	SNP	C	C	T	rs375533645		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:75819584C>T	ENST00000306726.2	-	2	594	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	28					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTAATCTCTTCGAGAAACTGC	0.398																																						uc002bal.2		NaN																	0				lung(1)|skin(1)	2						c.(82-84)GAA>AAA		protein tyrosine phosphatase, non-receptor type		C	LYS/GLU	0,4394		0,0,2197	110.0	94.0	100.0		82	4.7	1.0	15		100	1,8587	1.2+/-3.3	0,1,4293	no	missense	PTPN9	NM_002833.2	56	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	28/594	75819584	1,12981	2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75819584C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.82G>A	15.37:g.75819584C>T	ENSP00000303554:p.Glu28Lys						p.E28K	NM_002833	NP_002824	P43378	PTN9_HUMAN			2	590	-			28					Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.82G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627406	0.66901	0.0	1.16E-4	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.85088	-1.94	5.66	4.74	0.60224	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	L	0.39898	1.24	0.50039	D	0.999847	B	0.25169	0.119	B	0.20955	0.032	T	0.75133	-0.3425	10	0.62326	D	0.03	.	9.007	0.36117	0.0:0.7727:0.1485:0.0788	.	28	P43378	PTN9_HUMAN	K	28;18	ENSP00000303554:E28K	ENSP00000303554:E28K	E	-	1	0	PTPN9	73606639	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.748000	0.68697	1.389000	0.46526	0.650000	0.86243	GAA		0.398	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				6	63	0	0	0	0.02938	0	6	63		
PEAK1	79834	broad.mit.edu	37	15	77472021	77472021	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:77472021C>T	ENST00000560626.2	-	4	2723	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E750K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E750K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	750					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATCTGAGACTCCTGAGTGCCT	0.527																																						uc002bcm.2		NaN																	0					0						c.(2248-2250)GAG>AAG		NKF3 kinase family member							85.0	83.0	84.0					15																	77472021		2009	4184	6193	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472021C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2248G>A	15.37:g.77472021C>T	ENSP00000452796:p.Glu750Lys					SGK269_uc002bcn.2_Missense_Mutation_p.E750K	p.E750K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2556	-			750					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.2248G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535003	0.64972	.	.	ENSG00000173517	ENST00000312493	T	0.70869	-0.52	5.57	5.57	0.84162	.	0.613517	0.10782	U	0.634772	T	0.61135	0.2323	N	0.14661	0.345	0.34679	D	0.724543	B	0.24132	0.098	B	0.21917	0.037	T	0.62039	-0.6938	10	0.52906	T	0.07	-4.9413	19.5379	0.95262	0.0:1.0:0.0:0.0	.	750	Q9H792	PEAK1_HUMAN	K	750	ENSP00000309230:E750K	ENSP00000309230:E750K	E	-	1	0	AC087465.1	75259076	0.222000	0.23652	0.311000	0.25182	0.827000	0.46813	2.821000	0.48065	2.618000	0.88619	0.655000	0.94253	GAG		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3				8	77	0	0	0	0.006214	0	8	77		
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:83776476C>T	ENST00000322019.9	+	1	318	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral component of membrane (GO:0016021)		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736																																						uc002bjp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(43-45)TCG>TTG		transmembrane 6 superfamily member 1 isoform 1							29.0	27.0	27.0					15																	83776476		2200	4300	6500	SO:0001583	missense	53346					integral to membrane		g.chr15:83776476C>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.44C>T	15.37:g.83776476C>T	ENSP00000317000:p.Ser15Leu					TM6SF1_uc010bmq.2_Missense_Mutation_p.S15L|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15L|TM6SF1_uc010bmr.2_RNA	p.S15L	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			1	153	+			15			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.44C>T	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.18551	0.0445	N	0.11927	0.2	0.28287	N	0.923729	B;B;B	0.16802	0.008;0.017;0.019	B;B;B	0.11329	0.002;0.002;0.006	T	0.12192	-1.0557	10	0.40728	T	0.16	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	L	15	ENSP00000317000:S15L;ENSP00000368696:S15L;ENSP00000368693:S15L;ENSP00000368700:S15L;ENSP00000258909:S15L	ENSP00000258909:S15L	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG		0.736	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003		3	15	0	0	0	0.004672	0	3	15		
ITFG3	83986	broad.mit.edu	37	16	304468	304468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304468G>C	ENST00000399932.3	+	3	507	c.56G>C	c.(55-57)aGa>aCa	p.R19T	ITFG3_ENST00000442458.2_Missense_Mutation_p.R19T|ITFG3_ENST00000600536.1_Missense_Mutation_p.R19T|ITFG3_ENST00000301679.2_Missense_Mutation_p.R19T|ITFG3_ENST00000450082.2_Missense_Mutation_p.R19T|ITFG3_ENST00000301678.3_Missense_Mutation_p.R19T	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	19						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AATGAAGAAAGAAAATCGCAG	0.502											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cgf.2		NaN																	0				central_nervous_system(1)	1						c.(55-57)AGA>ACA		integrin alpha FG-GAP repeat containing 3							129.0	137.0	134.0					16																	304468		1847	4089	5936	SO:0001583	missense	83986					integral to membrane		g.chr16:304468G>C	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.56G>C	16.37:g.304468G>C	ENSP00000382814:p.Arg19Thr		OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.R19T|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.R19T	p.R19T	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			3	251	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	19			Cytoplasmic (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.56G>C	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308179	0.40895	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000419173;ENST00000426695;ENST00000438220;ENST00000447499;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082;ENST00000420500;ENST00000417499	.	.	.	5.95	-1.08	0.09936	.	1.496170	0.03456	N	0.211353	T	0.33177	0.0854	L	0.51422	1.61	0.09310	N	1	B;B	0.31054	0.306;0.257	B;B	0.29267	0.1;0.074	T	0.09422	-1.0675	9	0.17832	T	0.49	-1.5805	4.6957	0.12802	0.3546:0.0:0.4246:0.2208	.	19;19	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	T	19	.	ENSP00000301678:R19T	R	+	2	0	ITFG3	244469	0.232000	0.23762	0.000000	0.03702	0.966000	0.64601	0.967000	0.29344	-0.133000	0.11537	0.563000	0.77884	AGA		0.502	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2		NM_032039		43	138	0	0	0	0.01441	0	43	138		
ITFG3	83986	broad.mit.edu	37	16	304632	304632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304632G>A	ENST00000399932.3	+	3	671	c.220G>A	c.(220-222)Gac>Aac	p.D74N	ITFG3_ENST00000442458.2_Missense_Mutation_p.D74N|ITFG3_ENST00000600536.1_Missense_Mutation_p.D74N|ITFG3_ENST00000301679.2_Missense_Mutation_p.D74N|ITFG3_ENST00000450082.2_Missense_Mutation_p.D74N|ITFG3_ENST00000301678.3_Missense_Mutation_p.D74N	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	74						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCCGTGTCCAGACCGGCCGGC	0.607																																						uc002cgf.2		NaN																	0				central_nervous_system(1)	1						c.(220-222)GAC>AAC		integrin alpha FG-GAP repeat containing 3							159.0	170.0	166.0					16																	304632		1960	4141	6101	SO:0001583	missense	83986					integral to membrane		g.chr16:304632G>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.220G>A	16.37:g.304632G>A	ENSP00000382814:p.Asp74Asn					ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.D74N|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D74N	p.D74N	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			3	415	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	74			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.220G>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270729	0.59540	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000419173;ENST00000438220;ENST00000447499;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082;ENST00000420500	T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.79	4.84	0.62591	Quinonprotein alcohol dehydrogenase-like (1);	0.318671	0.33691	N	0.004650	T	0.56337	0.1978	M	0.72479	2.2	0.09310	N	1	P;P	0.41848	0.763;0.763	B;B	0.41619	0.361;0.361	T	0.53041	-0.8494	10	0.19147	T	0.46	-22.3891	13.022	0.58794	0.0779:0.0:0.9221:0.0	.	74;74	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	N	74	ENSP00000382814:D74N;ENSP00000301679:D74N;ENSP00000399150:D74N;ENSP00000397477:D74N;ENSP00000407669:D74N;ENSP00000398433:D74N;ENSP00000301678:D74N;ENSP00000411394:D74N	ENSP00000301678:D74N	D	+	1	0	ITFG3	244633	1.000000	0.71417	0.293000	0.24932	0.322000	0.28314	7.308000	0.78929	2.750000	0.94351	0.563000	0.77884	GAC		0.607	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2		NM_032039		59	287	0	0	0	0.01441	0	59	287		
GRIN2A	2903	broad.mit.edu	37	16	9862756	9862756	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:9862756G>T	ENST00000396573.2	-	13	2856	c.2547C>A	c.(2545-2547)ttC>ttA	p.F849L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.F849L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F849L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F849L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F849L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.F692L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	849					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACACGCCCGTGAAACAGAAGC	0.572																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2545-2547)TTC>TTA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						86.0	83.0	84.0					16																	9862756		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862756G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2547C>A	16.37:g.9862756G>T	ENSP00000379818:p.Phe849Leu					GRIN2A_uc010uym.1_Missense_Mutation_p.F849L|GRIN2A_uc010uyn.1_Missense_Mutation_p.F692L|GRIN2A_uc002czr.3_Missense_Mutation_p.F849L	p.F849L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	3095	-			849			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2547C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483049	0.63962	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11495	2.77;2.79;2.8;2.77;2.77	4.44	4.44	0.53790	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.80183	2.485	0.49483	D	0.99979	P;P;D	0.57571	0.845;0.872;0.98	P;P;P	0.58620	0.646;0.842;0.748	T	0.01480	-1.1344	9	.	.	.	.	10.1589	0.42840	0.0924:0.0:0.9076:0.0	.	692;849;849	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	849;849;692;849;849	ENSP00000379818:F849L;ENSP00000385872:F849L;ENSP00000441572:F692L;ENSP00000332549:F849L;ENSP00000379820:F849L	.	F	-	3	2	GRIN2A	9770257	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.980000	0.56895	2.170000	0.68504	0.563000	0.77884	TTC		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				20	57	1	0	7.41877e-09	0.012319	8.0792e-09	20	57		
UQCRC2	7385	broad.mit.edu	37	16	21985248	21985248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:21985248C>G	ENST00000268379.4	+	11	1762	c.998C>G	c.(997-999)tCt>tGt	p.S333C	UQCRC2_ENST00000561553.1_Missense_Mutation_p.S333C	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	333					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TACTCAGATTCTGGACTCTTT	0.388																																					Colon(123;450 1645 12841 25393 45623)	uc002djx.2		NaN																	0				large_intestine(2)	2						c.(997-999)TCT>TGT		ubiquinol-cytochrome c reductase core protein II							105.0	98.0	100.0					16																	21985248		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21985248C>G	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.998C>G	16.37:g.21985248C>G	ENSP00000268379:p.Ser333Cys					UQCRC2_uc002djy.2_Missense_Mutation_p.S333C|UQCRC2_uc010bxa.2_Intron|UQCRC2_uc002djz.1_Missense_Mutation_p.S200C	p.S333C	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	11	1134	+			333					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.998C>G	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696604	0.88830	.	.	ENSG00000140740	ENST00000268379	T	0.08896	3.04	5.4	5.4	0.78164	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25222	-1.0138	10	0.87932	D	0	-18.1066	18.1217	0.89573	0.0:1.0:0.0:0.0	.	333	P22695	QCR2_HUMAN	C	333	ENSP00000268379:S333C	ENSP00000268379:S333C	S	+	2	0	UQCRC2	21892749	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.241000	0.78201	2.683000	0.91414	0.655000	0.94253	TCT		0.388	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1		NM_003366		14	57	0	0	0	0.024245	0	14	57		
GTF3C1	2975	broad.mit.edu	37	16	27518439	27518439	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:27518439C>G	ENST00000356183.4	-	9	1296	c.1281G>C	c.(1279-1281)aaG>aaC	p.K427N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K427N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	427					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						AGGAAATGTACTTGGTGGTTC	0.552																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1279-1281)AAG>AAC		general transcription factor IIIC, polypeptide							74.0	69.0	70.0					16																	27518439		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518439C>G	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.1281G>C	16.37:g.27518439C>G	ENSP00000348510:p.Lys427Asn					GTF3C1_uc002dou.2_Missense_Mutation_p.K427N	p.K427N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			9	1321	-			427					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1281G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848910	0.71603	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.35605	1.3	4.92	4.92	0.64577	.	0.054786	0.64402	D	0.000001	T	0.45716	0.1356	L	0.29908	0.895	0.40812	D	0.983432	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.42515	-0.9447	10	0.49607	T	0.09	-4.8495	11.2998	0.49298	0.0:0.9158:0.0:0.0842	.	427;427	Q12789;Q12789-3	TF3C1_HUMAN;.	N	427;425	ENSP00000348510:K427N	ENSP00000348510:K427N	K	-	3	2	GTF3C1	27425940	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.536000	0.23129	2.282000	0.76494	0.650000	0.86243	AAG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520		18	80	0	0	0	0.016522	0	18	80		
SNX20	124460	broad.mit.edu	37	16	50709713	50709713	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:50709713G>C	ENST00000330943.4	-	3	421	c.250C>G	c.(250-252)Cgc>Ggc	p.R84G	SNX20_ENST00000300590.3_Missense_Mutation_p.R84G|SNX20_ENST00000423026.2_Missense_Mutation_p.R84G	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	84	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCCTCGATGCGAGCTGAAGCG	0.512																																						uc002egk.2		NaN																	0				ovary(1)	1						c.(250-252)CGC>GGC		sorting nexin 20 isoform 1							136.0	128.0	131.0					16																	50709713		2198	4300	6498	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50709713G>C	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.250C>G	16.37:g.50709713G>C	ENSP00000332062:p.Arg84Gly					SNX20_uc010vgp.1_Missense_Mutation_p.R84G|SNX20_uc002egi.3_Missense_Mutation_p.R84G	p.R84G	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			3	423	-			84			PX.		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.250C>G	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502709	0.64298	.	.	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.57436	0.4;0.43;1.61	5.66	3.55	0.40652	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	M	0.62723	1.935	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.992;0.993	T	0.69745	-0.5062	10	0.72032	D	0.01	-29.2594	11.4293	0.50029	0.0:0.0:0.4922:0.5078	.	84;84;84	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	G	84	ENSP00000300590:R84G;ENSP00000388875:R84G;ENSP00000332062:R84G	ENSP00000300590:R84G	R	-	1	0	SNX20	49267214	1.000000	0.71417	0.984000	0.44739	0.600000	0.36913	3.139000	0.50577	1.360000	0.45960	0.462000	0.41574	CGC		0.512	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2		NM_153337		17	115	0	0	0	0.012319	0	17	115		
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:53288443C>T	ENST00000398510.3	+	17	4042	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(3955-3957)CGA>TGA		chromodomain helicase DNA binding protein 9							222.0	216.0	218.0					16																	53288443		1871	4108	5979	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288443C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3955C>T	16.37:g.53288443C>T	ENSP00000381522:p.Arg1319*					CHD9_uc002egy.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehc.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehf.2_Nonsense_Mutation_p.R433*|CHD9_uc002ehd.2_Nonsense_Mutation_p.R845*	p.R1319*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			17	4119	+		all_cancers(37;0.0212)	1319			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.3955C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.421252	0.99402	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.48	4.5	0.54988	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.8648	13.543	0.61686	0.3403:0.6597:0.0:0.0	.	.	.	.	X	1319;1319;845	.	ENSP00000219084:R845X	R	+	1	2	CHD9	51845944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.458000	0.35223	1.268000	0.44264	0.650000	0.86243	CGA		0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		31	176	0	0	0	0.012213	0	31	176		
SETD6	79918	broad.mit.edu	37	16	58552747	58552747	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:58552747G>C	ENST00000219315.4	+	8	1286	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	SETD6_ENST00000310682.2_Missense_Mutation_p.W388C|SETD6_ENST00000394266.4_Missense_Mutation_p.W343C			Q8TBK2	SETD6_HUMAN	SET domain containing 6	412					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						AAGCATCGTGGAGACAGCTGC	0.453																																						uc002ens.2		NaN																	0				ovary(1)	1						c.(1234-1236)TGG>TGC		SET domain containing 6 isoform a							125.0	120.0	122.0					16																	58552747		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552747G>C	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.1236G>C	16.37:g.58552747G>C	ENSP00000219315:p.Trp412Cys					SETD6_uc002enr.2_Missense_Mutation_p.W388C|SETD6_uc010cdm.2_RNA	p.W412C	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN			8	1295	+			412					A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.1236G>C	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255141	0.39896	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315;ENST00000447443	T;T;T;T	0.60040	2.39;2.39;2.39;0.22	5.3	5.3	0.74995	Rubisco LS methyltransferase, substrate-binding domain (2);	0.125072	0.64402	D	0.000015	T	0.51143	0.1657	L	0.45137	1.4	0.80722	D	1	P;D	0.53312	0.719;0.959	P;B	0.45474	0.482;0.354	T	0.48714	-0.9011	10	0.33141	T	0.24	-16.1356	10.8533	0.46782	0.0:0.1399:0.7153:0.1448	.	412;388	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	C	388;343;412;174	ENSP00000310082:W388C;ENSP00000377809:W343C;ENSP00000219315:W412C;ENSP00000396437:W174C	ENSP00000219315:W412C	W	+	3	0	SETD6	57110248	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	5.041000	0.64196	2.462000	0.83206	0.655000	0.94253	TGG		0.453	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2		NM_024860		19	64	0	0	0	0.016522	0	19	64		
EDC4	23644	broad.mit.edu	37	16	67912685	67912685	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912685C>G	ENST00000358933.5	+	11	1469	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	410					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCCTAGCCTCAAGGTTTGCT	0.517																																						uc002eur.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1228-1230)CTC>CTG		autoantigen RCD8							147.0	156.0	153.0					16																	67912685		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67912685C>G	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1230C>G	16.37:g.67912685C>G						EDC4_uc010cer.2_Silent_p.L29L|EDC4_uc010vkg.1_Silent_p.L342L|EDC4_uc010ces.1_Silent_p.L253L|EDC4_uc002eus.2_Silent_p.L140L	p.L410L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1396	+		Ovarian(137;0.0563)	410					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1230C>G	CCDS10849.1																																																																																				0.517	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		38	252	0	0	0	0.01441	0	38	252		
EDC4	23644	broad.mit.edu	37	16	67912931	67912931	+	Missense_Mutation	SNP	C	C	A	rs373148601		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912931C>A	ENST00000358933.5	+	12	1598	c.1359C>A	c.(1357-1359)ttC>ttA	p.F453L	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	453					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTCGGAGTTCCTGCTCACCC	0.592																																						uc002eur.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1357-1359)TTC>TTA		autoantigen RCD8							61.0	50.0	54.0					16																	67912931		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67912931C>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1359C>A	16.37:g.67912931C>A	ENSP00000351811:p.Phe453Leu					EDC4_uc010cer.2_Missense_Mutation_p.F72L|EDC4_uc010vkg.1_Missense_Mutation_p.F385L|EDC4_uc010ces.1_Missense_Mutation_p.F296L|EDC4_uc002eus.2_Missense_Mutation_p.F183L	p.F453L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	12	1525	+		Ovarian(137;0.0563)	453					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1359C>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342538	0.61073	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.43	5.43	0.79202	.	0.094766	0.85682	D	0.000000	T	0.64427	0.2597	M	0.69823	2.125	0.49915	D	0.999836	D;P;P	0.59357	0.985;0.512;0.951	P;B;P	0.50537	0.643;0.154;0.525	T	0.68093	-0.5500	9	0.66056	D	0.02	-25.8757	11.8238	0.52254	0.0:0.9182:0.0:0.0818	.	385;72;453	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	L	453;385	.	ENSP00000351811:F453L	F	+	3	2	EDC4	66470432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.195000	0.51013	2.825000	0.97269	0.655000	0.94253	TTC		0.592	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		14	53	1	0	1.3612e-06	0.024245	1.43966e-06	14	53		
HYDIN	54768	broad.mit.edu	37	16	71004428	71004428	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:71004428C>T	ENST00000393567.2	-	36	5764	c.5614G>A	c.(5614-5616)Gaa>Aaa	p.E1872K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1872					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCACCTTTTCTTCTATGAGA	0.418																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(5611-5613)GAA>AAA		hydrocephalus inducing isoform a							49.0	48.0	48.0					16																	71004428		1832	4072	5904	SO:0001583	missense	54768							g.chr16:71004428C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5614G>A	16.37:g.71004428C>T	ENSP00000377197:p.Glu1872Lys						p.E1871K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			36	5739	-		Ovarian(137;0.0654)	1872					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.5611G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096383	0.94197	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.39997	1.05	4.65	4.65	0.58169	.	0.000000	0.33180	U	0.005194	T	0.68201	0.2975	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74562	-0.3624	10	0.72032	D	0.01	.	17.4637	0.87626	0.0:1.0:0.0:0.0	.	1871	F8WD23	.	K	1872;1871	ENSP00000377197:E1872K	ENSP00000310485:E163K	E	-	1	0	HYDIN	69561929	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.484000	0.81180	2.311000	0.77944	0.505000	0.49811	GAA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				13	40	0	0	0	0.007413	0	13	40		
ANKRD11	29123	broad.mit.edu	37	16	89351727	89351727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:89351727G>C	ENST00000301030.4	-	9	1683	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S408*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACGTGTCTGACAGGATACG	0.468																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1222-1224)TCA>TGA		ankyrin repeat domain 11							99.0	89.0	92.0					16																	89351727		2198	4300	6498	SO:0001587	stop_gained	29123					nucleus		g.chr16:89351727G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1223C>G	16.37:g.89351727G>C	ENSP00000301030:p.Ser408*					ANKRD11_uc002fmy.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.S365*	p.S408*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1684	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	408					Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.1223C>G	CCDS32513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.448505|6.448505	0.97577|0.97577	.|.	.|.	ENSG00000167522|ENSG00000167522	ENST00000378332|ENST00000301030;ENST00000378330;ENST00000330736	.|.	.|.	.|.	5.4|5.4	4.44|4.44	0.53790|0.53790	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72260|.	0.3438|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73322|.	-0.4019|.	5|.	0.41790|0.45353	T|T	0.15|0.12	.|.	15.4132|15.4132	0.74943|0.74943	0.0:0.0:0.8595:0.1405|0.0:0.0:0.8595:0.1405	.|.	.|.	.|.	.|.	E|X	421|408;408;27	.|.	ENSP00000367583:Q421E|ENSP00000301030:S408X	Q|S	-|-	1|2	0|0	ANKRD11|ANKRD11	87879228|87879228	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.438000|0.438000	0.31896|0.31896	9.601000|9.601000	0.98297|0.98297	1.258000|1.258000	0.44101|0.44101	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.468	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		7	62	0	0	0	0.00308	0	7	62		
MYO1C	4641	broad.mit.edu	37	17	1386204	1386204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:1386204C>T	ENST00000575158.1	-	4	568	c.392G>A	c.(391-393)cGc>cAc	p.R131H	MYO1C_ENST00000545534.2_Missense_Mutation_p.R142H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R147H|MYO1C_ENST00000359786.5_Missense_Mutation_p.R166H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R131H|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	138	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCACCTCCGCGCTCGGGGGC	0.687																																						uc002fsp.2		NaN																	0					0						c.(496-498)CGC>CAC		myosin IC isoform a							22.0	23.0	23.0					17																	1386204		2201	4294	6495	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386204C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.392G>A	17.37:g.1386204C>T	ENSP00000459174:p.Arg131His					MYO1C_uc002fsn.2_Missense_Mutation_p.R147H|MYO1C_uc002fso.2_Missense_Mutation_p.R131H|MYO1C_uc010vqj.1_Missense_Mutation_p.R131H|MYO1C_uc010vqk.1_Missense_Mutation_p.R142H	p.R166H	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	717	-			166			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.497G>A	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642433	0.29246	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.45	4.47	0.54385	Myosin head, motor domain (2);	0.301671	0.37393	N	0.002103	T	0.74412	0.3713	N	0.16307	0.4	0.32374	N	0.555456	B;B;B	0.16166	0.016;0.007;0.013	B;B;B	0.13407	0.009;0.009;0.005	T	0.71784	-0.4488	10	0.52906	T	0.07	.	4.911	0.13821	0.1841:0.654:0.0:0.1619	.	142;166;147	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	H	166;147;147;131;142;131	ENSP00000352834:R166H;ENSP00000412197:R147H;ENSP00000354283:R131H;ENSP00000437685:R142H	ENSP00000352834:R166H	R	-	2	0	MYO1C	1332954	0.999000	0.42202	0.747000	0.31113	0.133000	0.20885	4.004000	0.57068	1.267000	0.44247	0.462000	0.41574	CGC		0.687	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				14	29	0	0	0	0.024245	0	14	29		
ATP2A3	489	broad.mit.edu	37	17	3831578	3831578	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:3831578C>G	ENST00000352011.3	-	21	3078	c.3024G>C	c.(3022-3024)tgG>tgC	p.W1008C	ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000309890.7_Missense_Mutation_p.W1008C|ATP2A3_ENST00000397035.3_Missense_Mutation_p.W1008C|ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000359983.3_Missense_Mutation_p.W1008C|ATP2A3_ENST00000397041.3_Intron			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1008					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCCTACTCCAGGCCTGCG	0.612																																					GBM(32;29 774 15719 37967)	uc002fxb.1		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(3022-3024)TGG>TGC		ATPase, Ca++ transporting, ubiquitous isoform b							47.0	39.0	41.0					17																	3831578		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3831578C>G		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3024G>C	17.37:g.3831578C>G	ENSP00000301387:p.Trp1008Cys					ATP2A3_uc010ckn.1_Intron|ATP2A3_uc002fwx.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwy.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwz.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxa.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxc.1_Intron|ATP2A3_uc002fxd.1_Intron	p.W1008C	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	21	3175	-			1008			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.3024G>C	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013631	0.35511	.	.	ENSG00000074370	ENST00000352011;ENST00000359983;ENST00000309890;ENST00000397035	D;D;D;D	0.94537	-3.43;-3.45;-3.43;-3.43	4.83	4.83	0.62350	.	6.608700	0.00166	N	0.000007	D	0.91513	0.7320	N	0.14661	0.345	0.58432	D	0.999995	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	0.62172	-0.6910	10	0.52906	T	0.07	.	16.8731	0.86044	0.0:1.0:0.0:0.0	.	1008;1008;1008;1008	Q93084;Q93084-6;G3XAE1;Q93084-3	AT2A3_HUMAN;.;.;.	C	1008	ENSP00000301387:W1008C;ENSP00000353072:W1008C;ENSP00000312577:W1008C;ENSP00000380229:W1008C	ENSP00000312577:W1008C	W	-	3	0	ATP2A3	3778327	0.250000	0.23951	0.509000	0.27700	0.753000	0.42808	1.845000	0.39279	2.385000	0.81259	0.561000	0.74099	TGG		0.612	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		NM_174953		14	57	0	0	0	0.006122	0	14	57		
CYB5D2	124936	broad.mit.edu	37	17	4060176	4060176	+	Missense_Mutation	SNP	G	G	A	rs373442180		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4060176G>A	ENST00000301391.3	+	4	1095	c.595G>A	c.(595-597)Gac>Aac	p.D199N	CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575251.1_Missense_Mutation_p.D87N|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	199					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGTGAGCAGAGACTGGATTGG	0.572											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fxm.3		NaN																	0				large_intestine(2)|ovary(1)	3						c.(595-597)GAC>AAC		cytochrome b5 domain containing 2							52.0	48.0	49.0					17																	4060176		2203	4300	6503	SO:0001583	missense	124936				nervous system development	extracellular region	heme binding	g.chr17:4060176G>A	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.595G>A	17.37:g.4060176G>A	ENSP00000301391:p.Asp199Asn		OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	615	CYB5D2_uc010cko.2_Missense_Mutation_p.D87N|CYB5D2_uc002fxl.3_Missense_Mutation_p.D87N	p.D199N	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN			4	1183	+			199					B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	c.595G>A	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124603	0.56613	.	.	ENSG00000167740	ENST00000301391	T	0.77229	-1.08	4.95	4.95	0.65309	.	0.162044	0.53938	D	0.000050	T	0.70710	0.3255	L	0.50919	1.6	0.53005	D	0.999962	P	0.39748	0.686	B	0.31614	0.133	T	0.74520	-0.3638	10	0.46703	T	0.11	-37.6418	16.9081	0.86133	0.0:0.0:1.0:0.0	.	199	Q8WUJ1	NEUFC_HUMAN	N	199	ENSP00000301391:D199N	ENSP00000301391:D199N	D	+	1	0	CYB5D2	4006925	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.025000	0.76449	2.563000	0.86464	0.561000	0.74099	GAC		0.572	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1		NM_144611		13	42	0	0	0	0.028581	0	13	42		
CAMTA2	23125	broad.mit.edu	37	17	4873702	4873702	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4873702C>G	ENST00000348066.3	-	17	3061	c.2938G>C	c.(2938-2940)Gag>Cag	p.E980Q	CAMTA2_ENST00000381311.5_Missense_Mutation_p.E982Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.E979Q|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E1003Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E985Q|RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000206020.3_5'Flank|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E980Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	980					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GACATGGTCTCACTGAGCCCC	0.607																																						uc002gah.1		NaN																	0				ovary(1)	1						c.(2938-2940)GAG>CAG		calmodulin binding transcription activator 2							85.0	80.0	82.0					17																	4873702		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4873702C>G	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2938G>C	17.37:g.4873702C>G	ENSP00000321813:p.Glu980Gln					SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.E1003Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E979Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E982Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E627Q	p.E980Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN			17	3046	-			980					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.2938G>C	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302632	0.60195	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.33438	2.62;1.65;1.41;1.65;1.43	5.3	5.3	0.74995	.	0.134417	0.49916	D	0.000139	T	0.35248	0.0925	L	0.44542	1.39	0.29235	N	0.873015	D;D;B;B;B	0.63880	0.993;0.993;0.244;0.068;0.112	P;P;B;B;B	0.55923	0.714;0.787;0.067;0.021;0.047	T	0.12319	-1.0552	10	0.16420	T	0.52	-19.7666	9.7935	0.40720	0.0:0.9092:0.0:0.0908	.	956;1003;982;980;979	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	Q	1003;982;979;980;980	ENSP00000412886:E1003Q;ENSP00000370712:E982Q;ENSP00000354828:E979Q;ENSP00000350910:E980Q;ENSP00000321813:E980Q	ENSP00000321813:E980Q	E	-	1	0	CAMTA2	4814426	0.924000	0.31332	0.990000	0.47175	0.949000	0.60115	0.522000	0.22909	2.757000	0.94681	0.655000	0.94253	GAG		0.607	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		20	132	0	0	0	0.010504	0	20	132		
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		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.chr17:7577547C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in 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).		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.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	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	0.99898	0.9951	M	0.91920	3.255	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;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		21	62	1	0	1.66031e-10	0.021523	1.83534e-10	21	62		
DNAH2	146754	broad.mit.edu	37	17	7643863	7643863	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7643863G>A	ENST00000572933.1	+	10	2962	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R501H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R583H|DNAH2_ENST00000082259.3_Missense_Mutation_p.R583H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem. {ECO:0000250}.				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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGCCTCCCGCGAGGTGCGG	0.672																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1501-1503)CGC>CAC		dynein heavy chain domain 3							65.0	59.0	61.0					17																	7643863		2202	4300	6502	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643863G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1502G>A	17.37:g.7643863G>A	ENSP00000458355:p.Arg501His					DNAH2_uc002git.2_Missense_Mutation_p.R583H|DNAH2_uc010vuk.1_Missense_Mutation_p.R501H	p.R501H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			9	1516	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	501			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1502G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316824	0.81469	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.62788	-0.0;-0.0	4.3	4.3	0.51218	Dynein heavy chain, domain-1 (1);	0.226341	0.37348	N	0.002131	T	0.80909	0.4714	M	0.87900	2.915	0.33534	D	0.594033	D;D	0.76494	0.998;0.999	D;D	0.70487	0.969;0.948	D	0.88461	0.3055	10	0.87932	D	0	.	15.7538	0.78009	0.0:0.0:1.0:0.0	.	501;583	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	501;501;583	ENSP00000373825:R501H;ENSP00000082259:R583H	ENSP00000082259:R583H	R	+	2	0	DNAH2	7584588	0.998000	0.40836	0.480000	0.27341	0.067000	0.16453	6.634000	0.74290	2.249000	0.74217	0.551000	0.68910	CGC		0.672	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		14	107	0	0	0	0.007413	0	14	107		
DNAH2	146754	broad.mit.edu	37	17	7673955	7673955	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7673955C>G	ENST00000572933.1	+	26	5639	c.4179C>G	c.(4177-4179)ctC>ctG	p.L1393L	DNAH2_ENST00000389173.2_Silent_p.L1393L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1393	Stem. {ECO:0000250}.				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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCATCGGCTCAGGTCAGGGG	0.542																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4177-4179)CTC>CTG		dynein heavy chain domain 3							85.0	85.0	85.0					17																	7673955		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673955C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4179C>G	17.37:g.7673955C>G							p.L1393L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			25	4193	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1393			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4179C>G	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		17	104	0	0	0	0.006122	0	17	104		
WDR16	146845	broad.mit.edu	37	17	9489122	9489122	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:9489122G>A	ENST00000576499.1	+	2	117	c.103G>A	c.(103-105)Gac>Aac	p.D35N	WDR16_ENST00000299764.5_Missense_Mutation_p.D45N|WDR16_ENST00000352665.5_Missense_Mutation_p.D35N|WDR16_ENST00000396219.3_Intron					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGCCATCCTGACCAGGAGCA	0.433																																						uc002gly.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(103-105)GAC>AAC		WD40-repeat protein upregulated in HCC isoform							183.0	170.0	174.0					17																	9489122		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9489122G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.103G>A	17.37:g.9489122G>A	ENSP00000476293:p.Asp35Asn					WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.D45N	p.D35N	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			2	172	+			35						Missense_Mutation	SNP	ENST00000576499.1	37	c.103G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.094262	0.94149	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.36157	1.27;4.88	5.86	5.86	0.93980	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.46614	1.455	0.80722	D	1	D;P	0.56287	0.975;0.693	P;B	0.51266	0.664;0.223	T	0.31696	-0.9934	10	0.54805	T	0.06	-40.5003	18.9528	0.92646	0.0:0.0:1.0:0.0	.	45;35	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	N	35;45	ENSP00000339449:D35N;ENSP00000299764:D45N	ENSP00000299764:D45N	D	+	1	0	WDR16	9429847	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.523000	0.81856	2.763000	0.94921	0.585000	0.79938	GAC		0.433	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2		NM_145054		31	140	0	0	0	0.013726	0	31	140		
NCOR1	9611	broad.mit.edu	37	17	16040727	16040727	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16040727C>G	ENST00000268712.3	-	14	1665		c.e14-1		NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395848.1_Splice_Site|RNU6-862P_ENST00000362804.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGAACACTCTGTAAGAAAT	0.299																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.e14-1		nuclear receptor co-repressor 1							46.0	44.0	45.0					17																	16040727		2203	4299	6502	SO:0001630	splice_region_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16040727C>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1408-1G>C	17.37:g.16040727C>G						NCOR1_uc002gpn.2_Splice_Site_p.S470_splice|NCOR1_uc002gpp.1_Splice_Site_p.S361_splice|NCOR1_uc002gpr.2_Splice_Site_p.S361_splice|NCOR1_uc002gps.1_Splice_Site_p.S479_splice|NCOR1_uc010coz.1_Splice_Site_p.S286_splice|NCOR1_uc010cpb.1_Splice_Site_p.S479_splice|NCOR1_uc010cpa.1_Splice_Site_p.S470_splice	p.S470_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	14	1648	-								B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	ENST00000268712.3	37	c.1408_splice	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687371	0.68157	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8687	0.88804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15981452	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	7.403000	0.79983	2.528000	0.85240	0.650000	0.86243	.		0.299	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	Intron	4	18	0	0	0	0.009096	0	4	18		
ZNF287	57336	broad.mit.edu	37	17	16470799	16470799	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16470799G>A	ENST00000395824.1	-	2	864	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H83Y|ZNF287_ENST00000461555.1_5'Flank			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCCTTTGAGTGAATCTCAGGT	0.493																																						uc002gqi.2		NaN																	0					0						c.(247-249)CAC>TAC		zinc finger protein 287							86.0	88.0	87.0					17																	16470799		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16470799G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.247C>T	17.37:g.16470799G>A	ENSP00000379168:p.His83Tyr						p.H83Y	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	2	700	-			76			SCAN box.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.247C>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031048	0.75504	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05319	3.46;3.46	5.18	5.18	0.71444	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.261257	0.27464	N	0.019249	T	0.19406	0.0466	M	0.90870	3.155	0.31144	N	0.706279	B	0.33919	0.432	B	0.39706	0.307	T	0.07829	-1.0752	10	0.72032	D	0.01	.	14.4033	0.67065	0.0:0.0:1.0:0.0	.	76	Q9HBT7	ZN287_HUMAN	Y	83	ENSP00000379169:H83Y;ENSP00000379168:H83Y	ENSP00000379168:H83Y	H	-	1	0	ZNF287	16411524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.898000	0.48672	2.854000	0.98071	0.655000	0.94253	CAC		0.493	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1				14	115	0	0	0	0.024245	0	14	115		
SUPT6H	6830	broad.mit.edu	37	17	27028139	27028139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:27028139C>T	ENST00000314616.6	+	36	5270	c.4987C>T	c.(4987-4989)Cag>Tag	p.Q1663*	PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1663*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1663	Interaction with histone H2B and H3.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACGGCAGCAGCAGCCAAAGTA	0.627																																						uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(4987-4989)CAG>TAG		suppressor of Ty 6 homolog							72.0	72.0	72.0					17																	27028139		2203	4300	6503	SO:0001587	stop_gained	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27028139C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4987C>T	17.37:g.27028139C>T	ENSP00000319104:p.Gln1663*					SUPT6H_uc010crt.2_Nonsense_Mutation_p.Q1663*	p.Q1663*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			36	5077	+	Lung NSC(42;0.00431)		1663					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	c.4987C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	46	12.386109	0.99663	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	5.23	0.72850	.	0.292957	0.39146	N	0.001441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-3.5664	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	X	1663;663	.	ENSP00000319104:Q1663X	Q	+	1	0	SUPT6H	24052266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.056000	0.76662	2.465000	0.83290	0.650000	0.86243	CAG		0.627	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		7	76	0	0	0	0.004482	0	7	76		
KRTAP4-8	728224	broad.mit.edu	37	17	39253806	39253806	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:39253806G>A	ENST00000333822.4	-	1	587	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	177					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CGCAGCACACGGGGCGGGGGC	0.622																																						uc010wfo.1		NaN																	0					0						c.(529-531)CCC>CCT		keratin associated protein 4.8							62.0	71.0	68.0					17																	39253806		691	1591	2282	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39253806G>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.531C>T	17.37:g.39253806G>A							p.P177P	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	570	-			177					A8MSH3	Silent	SNP	ENST00000333822.4	37	c.531C>T	CCDS45674.1																																																																																				0.622	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1		NM_031960		5	4	0	0	0	0.00308	0	5	4		
KCNH4	23415	broad.mit.edu	37	17	40315336	40315336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315336C>A	ENST00000264661.3	-	14	2826	c.2494G>T	c.(2494-2496)Gag>Tag	p.E832*	KCNH4_ENST00000607371.1_Nonsense_Mutation_p.E832*	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	832					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGAGTCCTCAATGCCATCC	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(2494-2496)GAG>TAG		potassium voltage-gated channel, subfamily H,							48.0	42.0	44.0					17																	40315336		2203	4300	6503	SO:0001587	stop_gained	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315336C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2494G>T	17.37:g.40315336C>A	ENSP00000264661:p.Glu832*						p.E832*	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2827	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	832			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000264661.3	37	c.2494G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827243	0.99273	.	.	ENSG00000089558	ENST00000264661	.	.	.	4.27	4.27	0.50696	.	0.000000	0.37955	N	0.001878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.1652	0.54125	0.0:1.0:0.0:0.0	.	.	.	.	X	832	.	ENSP00000264661:E832X	E	-	1	0	KCNH4	37568862	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	3.743000	0.55104	2.242000	0.73789	0.552000	0.68991	GAG		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		6	25	1	0	3.59834e-05	0.021553	3.77311e-05	6	25		
KCNH4	23415	broad.mit.edu	37	17	40315715	40315715	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315715G>A	ENST00000264661.3	-	13	2718	c.2386C>T	c.(2386-2388)Cac>Tac	p.H796Y	KCNH4_ENST00000607371.1_Missense_Mutation_p.H796Y	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	796					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGGGCCGTGAGGGGAGGCA	0.672																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(2386-2388)CAC>TAC		potassium voltage-gated channel, subfamily H,							13.0	15.0	14.0					17																	40315715		2167	4204	6371	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315715G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2386C>T	17.37:g.40315715G>A	ENSP00000264661:p.His796Tyr						p.H796Y	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	2719	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	796			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.2386C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243453	0.39697	.	.	ENSG00000089558	ENST00000264661	D	0.98777	-5.13	4.99	4.99	0.66335	.	0.227351	0.22191	U	0.063370	D	0.96765	0.8944	L	0.40543	1.245	0.32931	D	0.517187	B	0.18461	0.028	B	0.14023	0.01	D	0.98290	1.0513	10	0.59425	D	0.04	.	15.7611	0.78080	0.0:0.0:1.0:0.0	.	796	Q9UQ05	KCNH4_HUMAN	Y	796	ENSP00000264661:H796Y	ENSP00000264661:H796Y	H	-	1	0	KCNH4	37569241	1.000000	0.71417	0.723000	0.30687	0.773000	0.43773	3.388000	0.52509	2.323000	0.78572	0.484000	0.47621	CAC		0.672	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		6	20	0	0	0	0.006214	0	6	20		
KCNH4	23415	broad.mit.edu	37	17	40323897	40323897	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40323897G>A	ENST00000264661.3	-	7	1436	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	KCNH4_ENST00000607371.1_Silent_p.V368V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	368					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGCGCAAAGACCGACATGA	0.617																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(1102-1104)GTC>GTT		potassium voltage-gated channel, subfamily H,							97.0	79.0	85.0					17																	40323897		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323897G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1104C>T	17.37:g.40323897G>A							p.V368V	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1437	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	368			Helical; Name=Segment S5; (Potential).			Silent	SNP	ENST00000264661.3	37	c.1104C>T	CCDS11420.1																																																																																				0.617	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		6	62	0	0	0	0.00308	0	6	62		
ABCC3	8714	broad.mit.edu	37	17	48753883	48753883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:48753883C>G	ENST00000285238.8	+	23	3392	c.3312C>G	c.(3310-3312)atC>atG	p.I1104M		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1104	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTGTGGTCATCATGGCCAGCA	0.567																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(3310-3312)ATC>ATG		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						206.0	158.0	174.0					17																	48753883		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753883C>G	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3312C>G	17.37:g.48753883C>G	ENSP00000285238:p.Ile1104Met					ABCC3_uc002isn.2_5'Flank	p.I1104M	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3392	+			1104			ABC transmembrane type-1 2.|Helical; Name=14; (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3312C>G	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138540	0.21123	.	.	ENSG00000108846	ENST00000285238	D	0.94092	-3.35	5.24	3.26	0.37387	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.056489	0.64402	D	0.000002	D	0.94725	0.8298	M	0.84219	2.685	0.45439	D	0.998416	P	0.52061	0.95	P	0.53450	0.726	D	0.93533	0.6871	10	0.87932	D	0	-21.9855	8.6079	0.33784	0.0:0.6393:0.0:0.3607	.	1104	O15438	MRP3_HUMAN	M	1104	ENSP00000285238:I1104M	ENSP00000285238:I1104M	I	+	3	3	ABCC3	46108882	0.001000	0.12720	0.904000	0.35570	0.009000	0.06853	-0.189000	0.09629	0.600000	0.29862	-0.192000	0.12808	ATC		0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		26	122	0	0	0	0.009535	0	26	122		
TEX14	56155	broad.mit.edu	37	17	56665024	56665024	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:56665024C>G	ENST00000240361.8	-	17	2809	c.2724G>C	c.(2722-2724)atG>atC	p.M908I	TEX14_ENST00000389934.3_Missense_Mutation_p.M902I|TEX14_ENST00000349033.5_Missense_Mutation_p.M902I			Q8IWB6	TEX14_HUMAN	testis expressed 14	908					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTCCACACTCATCCTGAATT	0.438											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2722-2724)ATG>ATC		testis expressed sequence 14 isoform a							68.0	70.0	69.0					17																	56665024		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56665024C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2724G>C	17.37:g.56665024C>G	ENSP00000240361:p.Met908Ile		OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	TEX14_uc002iwr.1_Missense_Mutation_p.M902I|TEX14_uc002iws.1_Missense_Mutation_p.M902I|TEX14_uc010dda.1_Missense_Mutation_p.M682I	p.M908I	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			17	2842	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		908					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2724G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.645626	0.00792	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78003	-1.14;-1.14;-1.09	5.3	-4.03	0.04021	.	1.143810	0.06290	N	0.699060	T	0.52322	0.1727	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.36261	-0.9755	10	0.17369	T	0.5	0.0533	7.8118	0.29237	0.261:0.532:0.207:0.0	.	908;902;902	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	908;902;902	ENSP00000240361:M908I;ENSP00000374584:M902I;ENSP00000268910:M902I	ENSP00000240361:M908I	M	-	3	0	TEX14	54020023	0.038000	0.19896	0.003000	0.11579	0.007000	0.05969	-0.216000	0.09266	-0.415000	0.07484	-0.357000	0.07601	ATG		0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				22	39	0	0	0	0.009535	0	22	39		
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A	rs573895797		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:57275120G>A	ENST00000262293.4	+	9	1296	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CTD-2510F5.6_ENST00000577660.1_Silent_p.V35V	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	328						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19306	0.0		0.0	False		,,,				2504	0.001					uc002ixf.1		NaN																	0				ovary(2)	2						c.(982-984)GTG>GTA		proline rich 11							103.0	110.0	108.0					17																	57275120		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57275120G>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.984G>A	17.37:g.57275120G>A						PRR11_uc002ixg.1_RNA	p.V328V	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			9	1063	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		328					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.984G>A	CCDS11614.1																																																																																				0.428	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1		NM_018304		21	130	0	0	0	0.016522	0	21	130		
ACOX1	51	broad.mit.edu	37	17	73974647	73974647	+	Silent	SNP	G	G	A	rs201703373		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:73974647G>A	ENST00000301608.4	-	2	297	c.237C>T	c.(235-237)atC>atT	p.I79I	ACOX1_ENST00000537812.1_Silent_p.I41I|TEN1_ENST00000397640.1_5'Flank|ACOX1_ENST00000293217.5_Silent_p.I79I|TEN1_ENST00000416485.1_5'Flank|TEN1-CDK3_ENST00000567351.1_RNA|TEN1_ENST00000588202.1_5'Flank|ACOX1_ENST00000591857.1_5'UTR	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	79					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CAGGGTCAGCGATGCCAAACT	0.473																																						uc002jqf.2		NaN																	0				ovary(1)	1						c.(235-237)ATC>ATT		acyl-Coenzyme A oxidase 1 isoform b							136.0	123.0	127.0					17																	73974647		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73974647G>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.237C>T	17.37:g.73974647G>A						ACOX1_uc010wsq.1_Silent_p.I41I|ACOX1_uc002jqe.2_Silent_p.I79I|ACOX1_uc010wsr.1_5'UTR|C17orf106_uc010dgs.1_5'Flank|CDK3_uc002jqg.3_5'Flank	p.I79I	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			2	527	-			79					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.237C>T	CCDS11735.1																																																																																				0.473	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1				26	132	0	0	0	0.009535	0	26	132		
NOTUM	147111	broad.mit.edu	37	17	79911122	79911122	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:79911122C>T	ENST00000409678.3	-	11	1589	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	402						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACGTCCCCTTCACCTGGACAT	0.617																																						uc010wvg.1		NaN																	0					0						c.(1204-1206)GTG>GTA		notum pectinacetylesterase homolog precursor							13.0	14.0	14.0					17																	79911122		2198	4293	6491	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79911122C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1206G>A	17.37:g.79911122C>T							p.V402V	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1478	-	all_neural(118;0.0878)|Ovarian(332;0.12)		402					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.1206G>A	CCDS32771.2																																																																																				0.617	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2		NM_178493		4	17	0	0	0	0.009096	0	4	17		
EPG5	57724	broad.mit.edu	37	18	43510647	43510647	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:43510647A>G	ENST00000282041.5	-	12	2441	c.2407T>C	c.(2407-2409)Tat>Cat	p.Y803H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	803					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAACCTCATATATCTCCAGA	0.358																																						uc002lbm.2		NaN																	0					0						c.(2407-2409)TAT>CAT		hypothetical protein LOC57724							49.0	47.0	47.0					18																	43510647		1807	4066	5873	SO:0001583	missense	57724				autophagy			g.chr18:43510647A>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2407T>C	18.37:g.43510647A>G	ENSP00000282041:p.Tyr803His					KIAA1632_uc002lbo.1_Missense_Mutation_p.Y803H	p.Y803H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			12	2507	-			803					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.2407T>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511030	0.85389	.	.	ENSG00000152223	ENST00000282041	T	0.10960	2.82	5.87	5.87	0.94306	.	0.235428	0.37483	N	0.002079	T	0.30417	0.0764	L	0.56769	1.78	0.51767	D	0.999937	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.948	T	0.00768	-1.1574	10	0.87932	D	0	-11.0386	16.5764	0.84681	1.0:0.0:0.0:0.0	.	803;803	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	H	803	ENSP00000282041:Y803H	ENSP00000282041:Y803H	Y	-	1	0	EPG5	41764645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.371000	0.80710	0.533000	0.62120	TAT		0.358	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		23	29	0	0	0	0.034045	0	23	29		
MAPK4	5596	broad.mit.edu	37	18	48241459	48241459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:48241459C>T	ENST00000400384.2	+	3	1593	c.557C>T	c.(556-558)tCa>tTa	p.S186L	MAPK4_ENST00000592595.1_Missense_Mutation_p.S186L|MAPK4_ENST00000540640.1_5'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTTATCTGTCAGAAGGGTTG	0.512																																						uc002lev.2		NaN																	0				lung(4)|skin(2)	6						c.(556-558)TCA>TTA		mitogen-activated protein kinase 4							121.0	119.0	120.0					18																	48241459		1935	4134	6069	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48241459C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.557C>T	18.37:g.48241459C>T	ENSP00000383234:p.Ser186Leu					MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Missense_Mutation_p.S186L	p.S186L	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	3	1557	+		Colorectal(6;0.0297)	186			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.557C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112148	0.94339	.	.	ENSG00000141639	ENST00000400384	T	0.66815	-0.23	5.35	5.35	0.76521	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	0.50627	D	0.000113	T	0.75824	0.3902	L	0.37850	1.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.78342	-0.2241	10	0.87932	D	0	0.0275	17.8414	0.88716	0.0:1.0:0.0:0.0	.	186;186	Q0VG04;P31152	.;MK04_HUMAN	L	186	ENSP00000383234:S186L	ENSP00000383234:S186L	S	+	2	0	MAPK4	46495457	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.798000	0.85924	2.505000	0.84491	0.555000	0.69702	TCA		0.512	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2		NM_002747		21	117	0	0	0	0.024334	0	21	117		
SERPINB11	89778	broad.mit.edu	37	18	61377511	61377511	+	RNA	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:61377511C>G	ENST00000382749.5	+	0	329				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAGATAACATCTTCTTTTCTT	0.448																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NaN																	0				breast(1)	1						c.(82-84)ATC>ATG		serpin peptidase inhibitor, clade B, member 11							130.0	120.0	123.0					18																	61377511		1926	4151	6077			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61377511C>G			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377511C>G						SERPINB11_uc010xes.1_Translation_Start_Site|SERPINB11_uc010dqd.2_Translation_Start_Site|SERPINB11_uc002ljj.3_Translation_Start_Site|SERPINB11_uc010dqe.2_Translation_Start_Site|SERPINB11_uc010dqf.2_Missense_Mutation_p.I28M	p.I28M	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			2	146	+		Esophageal squamous(42;0.129)	28					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.84C>G		.	.	.	.	.	.	.	.	.	.	C	13.13	2.145305	0.37825	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.86164	-2.08;-2.08	5.14	3.15	0.36227	Serpin domain (3);	0.412500	0.20335	N	0.094341	D	0.92227	0.7535	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.71656	0.974;0.867	D	0.89928	0.4064	10	0.87932	D	0	.	5.0046	0.14282	0.1612:0.6462:0.0:0.1926	.	28;28	F5GY69;Q96P15	.;SPB11_HUMAN	M	28	ENSP00000441497:I28M;ENSP00000440795:I28M	ENSP00000421854:I28M	I	+	3	3	SERPINB11	59528491	0.993000	0.37304	0.997000	0.53966	0.339000	0.28857	0.511000	0.22739	0.540000	0.28808	-0.140000	0.14226	ATC		0.448	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3		NM_080475		21	27	0	0	0	0.016522	0	21	27		
CDH19	28513	broad.mit.edu	37	18	64212042	64212043	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:64212042_64212043CC>TT	ENST00000540086.1	-	6	1119_1120	c.873_874GG>AA	c.(871-876)atGGat>atAAat	p.291_292MD>IN	CDH19_ENST00000262150.2_Missense_Mutation_p.291_292MD>IN	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGCTGTAATCCATTTCTGCAT	0.351																																						uc002lkc.1		NaN																	0				ovary(1)|skin(1)	2						c.(871-876)ATGGAT>ATAAAT		cadherin 19, type 2 preproprotein																																				SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64212042_64212043CC>TT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.873_874delinsTT	18.37:g.64212042_64212043delinsTT	ENSP00000439593:p.M291_D292delinsIN					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.291_292MD>IN|CDH19_uc002lkd.2_Missense_Mutation_p.291_292MD>IN	p.291_292MD>IN	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			6	1011_1012	-		Esophageal squamous(42;0.0132)	291_292			Cadherin 3.|Extracellular (Potential).		O15098	Missense_Mutation	DNP	ENST00000540086.1	37	c.873_874GG>AA	CCDS59325.1																																																																																				0.351	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1		NM_021153		33	30	0	0	0	0.004672	0	33	30		
CYB5A	1528	broad.mit.edu	37	18	71920849	71920849	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:71920849C>G	ENST00000340533.4	-	5	515	c.375G>C	c.(373-375)ttG>ttC	p.L125F	CYB5A_ENST00000579064.1_5'UTR|CYB5A_ENST00000299438.9_Missense_Mutation_p.L51F|CYB5A_ENST00000494131.2_3'UTR|CYB5A_ENST00000397914.4_Missense_Mutation_p.L115F	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	125					hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				GGCGATACATCAAGGCGACGG	0.512																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)	uc002lli.2		NaN																	0					0						c.(373-375)TTG>TTC		cytochrome b-5 isoform 1	Methoxyflurane(DB01028)						89.0	75.0	80.0					18																	71920849		2203	4300	6503	SO:0001583	missense	1528				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding	g.chr18:71920849C>G	M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"""Cytochrome b genes"""	2570	protein-coding gene	gene with protein product		613218	"""cytochrome b-5"", ""cytochrome b5 (microsomal)"""	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.375G>C	18.37:g.71920849C>G	ENSP00000341625:p.Leu125Phe					CYB5A_uc002llh.2_3'UTR	p.L125F	NM_148923	NP_683725	P00167	CYB5_HUMAN			5	486	-		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)	125			Helical; (Potential).		A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	ENST00000340533.4	37	c.375G>C	CCDS12004.1	.	.	.	.	.	.	.	.	.	.	C	2.487	-0.318226	0.05386	.	.	ENSG00000166347	ENST00000397914;ENST00000340533	D;T	0.86164	-2.08;-0.92	5.92	4.14	0.48551	.	0.515915	0.20516	N	0.090792	D	0.82440	0.5037	L	0.53561	1.675	0.58432	D	0.999996	B	0.25105	0.118	B	0.24848	0.056	T	0.71948	-0.4438	10	0.07644	T	0.81	-18.3161	13.6225	0.62144	0.1129:0.6651:0.2219:0.0	.	125	P00167	CYB5_HUMAN	F	115;125	ENSP00000381011:L115F;ENSP00000341625:L125F	ENSP00000341625:L125F	L	-	3	2	CYB5A	70071829	1.000000	0.71417	0.923000	0.36655	0.010000	0.07245	1.052000	0.30429	0.412000	0.25729	-0.795000	0.03280	TTG		0.512	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1		NM_001914, NM_148923		3	55	0	0	0	0.004672	0	3	55		
MIER2	54531	broad.mit.edu	37	19	325674	325674	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:325674C>T	ENST00000264819.4	-	7	626	c.616G>A	c.(616-618)Gac>Aac	p.D206N	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	206	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTGCTGAGGTCAGCTTGGAAC	0.607																																						uc002lok.1		NaN																	0					0						c.(616-618)GAC>AAC		mesoderm induction early response 1, family							234.0	175.0	195.0					19																	325674		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:325674C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.616G>A	19.37:g.325674C>T	ENSP00000264819:p.Asp206Asn						p.D206N	NM_017550	NP_060020	Q8N344	MIER2_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)	7	625	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	206			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.616G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670042	0.67814	.	.	ENSG00000105556	ENST00000264819	T	0.32023	1.47	4.42	3.35	0.38373	ELM2 domain (2);	0.469869	0.17895	N	0.158400	T	0.27134	0.0665	L	0.39898	1.24	0.27531	N	0.951088	P	0.37688	0.605	B	0.42245	0.381	T	0.12760	-1.0535	10	0.62326	D	0.03	-34.8006	6.8845	0.24191	0.0:0.8088:0.0:0.1912	.	206	Q8N344	MIER2_HUMAN	N	206	ENSP00000264819:D206N	ENSP00000264819:D206N	D	-	1	0	MIER2	276674	0.995000	0.38212	0.996000	0.52242	0.990000	0.78478	3.606000	0.54095	2.302000	0.77476	0.561000	0.74099	GAC		0.607	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1		XM_041843		15	73	0	0	0	0.012319	0	15	73		
SAFB2	9667	broad.mit.edu	37	19	5613501	5613501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:5613501G>T	ENST00000252542.4	-	5	845	c.581C>A	c.(580-582)tCa>tAa	p.S194*	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTTCAACGATGAAGTTTCCAA	0.423																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NaN																	0					0						c.(580-582)TCA>TAA		scaffold attachment factor B2							137.0	113.0	121.0					19																	5613501		2203	4300	6503	SO:0001587	stop_gained	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5613501G>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.581C>A	19.37:g.5613501G>T	ENSP00000252542:p.Ser194*					SAFB2_uc010xio.1_Nonsense_Mutation_p.S194*|SAFB2_uc010xip.1_RNA	p.S194*	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	5	793	-			194					B4DKG3|Q8TB13	Nonsense_Mutation	SNP	ENST00000252542.4	37	c.581C>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.532761	0.97641	.	.	ENSG00000130254	ENST00000252542;ENST00000536849	.	.	.	5.47	5.47	0.80525	.	0.158488	0.29814	N	0.011126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6262	16.0438	0.80704	0.0:0.0:1.0:0.0	.	.	.	.	X	194;173	.	ENSP00000252542:S194X	S	-	2	0	SAFB2	5564501	0.995000	0.38212	0.512000	0.27736	0.530000	0.34684	5.267000	0.65530	2.581000	0.87130	0.563000	0.77884	TCA		0.423	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1		NM_014649		17	59	1	0	7.41877e-09	0.012319	8.0792e-09	17	59		
LRRC8E	80131	broad.mit.edu	37	19	7965381	7965381	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:7965381C>G	ENST00000306708.6	+	3	2075	c.1974C>G	c.(1972-1974)ctC>ctG	p.L658L	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	658					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGAGCAGCTCTACCTCAGCT	0.632																																						uc002mir.2		NaN																	0				lung(1)|pancreas(1)	2						c.(1972-1974)CTC>CTG		leucine rich repeat containing 8 family, member							31.0	31.0	31.0					19																	7965381		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7965381C>G		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1974C>G	19.37:g.7965381C>G							p.L658L	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	2075	+			658			LRR 7.		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.1974C>G	CCDS12189.1																																																																																				0.632	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1		NM_025061		7	24	0	0	0	0.02938	0	7	24		
MUC16	94025	broad.mit.edu	37	19	9086461	9086461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9086461G>T	ENST00000397910.4	-	1	5557	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1785	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTTGCTGAAGACTTGGA	0.468																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5353-5355)TCA>TAA		mucin 16							127.0	121.0	123.0					19																	9086461		1961	4139	6100	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086461G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5354C>A	19.37:g.9086461G>T	ENSP00000381008:p.Ser1785*						p.S1785*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5558	-			1785			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.5354C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	44	11.050979	0.99508	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.32	-1.33	0.09172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.1518	0.06490	0.0:0.2933:0.4104:0.2963	.	.	.	.	X	1785	.	ENSP00000381008:S1785X	S	-	2	0	MUC16	8947461	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.677000	0.05215	-0.331000	0.08501	0.305000	0.20034	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		15	55	1	0	3.57192e-18	0.006122	4.03353e-18	15	55		
MUC16	94025	broad.mit.edu	37	19	9088659	9088659	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9088659C>T	ENST00000397910.4	-	1	3359	c.3156G>A	c.(3154-3156)ttG>ttA	p.L1052L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1052	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTGTGTCCAATCTTCCTT	0.478																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3154-3156)TTG>TTA		mucin 16							108.0	105.0	106.0					19																	9088659		1977	4176	6153	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088659C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3156G>A	19.37:g.9088659C>T							p.L1052L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3360	-			1052			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3156G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		19	65	0	0	0	0.008871	0	19	65		
TNPO2	30000	broad.mit.edu	37	19	12829859	12829859	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:12829859G>A	ENST00000592287.1	-	4	417	c.309C>T	c.(307-309)ctC>ctT	p.L103L	TNPO2_ENST00000450764.2_Silent_p.L103L|TNPO2_ENST00000356861.5_Silent_p.L103L|TNPO2_ENST00000441499.1_Silent_p.L103L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000425528.1_Silent_p.L103L|TNPO2_ENST00000588216.1_Silent_p.L103L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	103					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCTCGGATGAGCGAGGAGG	0.532																																						uc002muo.2		NaN																	0				ovary(1)	1						c.(307-309)CTC>CTT		transportin 2 (importin 3, karyopherin beta 2b)							115.0	117.0	116.0					19																	12829859		2066	4200	6266	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12829859G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.309C>T	19.37:g.12829859G>A						TNPO2_uc002mup.2_Silent_p.L195L|TNPO2_uc002muq.2_Silent_p.L103L|TNPO2_uc002mur.2_Silent_p.L103L	p.L103L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			4	494	-			103					O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.309C>T	CCDS45991.1																																																																																				0.532	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1		NM_013433		31	131	0	0	0	0.021022	0	31	131		
RFX1	5989	broad.mit.edu	37	19	14079426	14079426	+	Silent	SNP	C	C	T	rs150138140		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:14079426C>T	ENST00000254325.4	-	12	1917	c.1683G>A	c.(1681-1683)acG>acA	p.T561T		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	561					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGACAGCCCCGTGCTCGGCT	0.662																																						uc002mxv.2		NaN																	0				lung(1)|pancreas(1)	2						c.(1681-1683)ACG>ACA		regulatory factor X1		C		3,4403	6.2+/-15.9	0,3,2200	67.0	74.0	71.0		1683	-10.4	0.0	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	RFX1	NM_002918.4		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		561/980	14079426	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14079426C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1683G>A	19.37:g.14079426C>T							p.T561T	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		12	1955	-			561						Silent	SNP	ENST00000254325.4	37	c.1683G>A	CCDS12301.1																																																																																				0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1		NM_002918		21	64	0	0	0	0.034045	0	21	64		
CYP4F12	66002	broad.mit.edu	37	19	15794528	15794528	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:15794528C>G	ENST00000550308.1	+	7	1253	c.873C>G	c.(871-873)gcC>gcG	p.A291A	CYP4F12_ENST00000324632.10_Silent_p.A291A	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	291					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AAGACAAAGCCAAGTCCAAGA	0.488																																						uc002nbl.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(871-873)GCC>GCG		cytochrome P450, family 4, subfamily F,							133.0	130.0	131.0					19																	15794528		2199	4298	6497	SO:0001819	synonymous_variant	66002							g.chr19:15794528C>G	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.873C>G	19.37:g.15794528C>G							p.A291A	NM_023944	NP_076433					7	934	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.873C>G	CCDS42517.1																																																																																				0.488	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9				21	85	0	0	0	0.021523	0	21	85		
RAB3A	5864	broad.mit.edu	37	19	18311177	18311177	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:18311177C>A	ENST00000222256.4	-	3	485	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	RAB3A_ENST00000464076.3_Missense_Mutation_p.D8Y	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	103					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TTGGTGATGTCATACATGAGG	0.493																																						uc002nie.2		NaN																	0					0						c.(307-309)GAC>TAC		RAB3A, member RAS oncogene family							213.0	173.0	187.0					19																	18311177		2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18311177C>A		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.307G>T	19.37:g.18311177C>A	ENSP00000222256:p.Asp103Tyr						p.D103Y	NM_002866	NP_002857	P20336	RAB3A_HUMAN			3	476	-			103					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.307G>T	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816990	0.70912	.	.	ENSG00000105649	ENST00000222256	D	0.87491	-2.26	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.99867	4.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98763	1.0725	10	0.87932	D	0	-30.7079	15.7492	0.77969	0.0:1.0:0.0:0.0	.	103	P20336	RAB3A_HUMAN	Y	103	ENSP00000222256:D103Y	ENSP00000222256:D103Y	D	-	1	0	RAB3A	18172177	1.000000	0.71417	0.999000	0.59377	0.410000	0.31052	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GAC		0.493	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2		NM_002866		18	96	1	0	3.5997e-14	0.014323	4.01547e-14	18	96		
ZNF100	163227	broad.mit.edu	37	19	21909652	21909652	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:21909652C>G	ENST00000358296.6	-	5	1660	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	ZNF100_ENST00000305570.6_Missense_Mutation_p.E424Q	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCACATTCCTCACATTTGTAG	0.398																																						uc002nqi.2		NaN																	0					0						c.(1462-1464)GAG>CAG		zinc finger protein 100							63.0	69.0	67.0					19																	21909652		2202	4298	6500	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909652C>G	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1462G>C	19.37:g.21909652C>G	ENSP00000351042:p.Glu488Gln					ZNF100_uc002nqh.2_Missense_Mutation_p.E424Q	p.E488Q	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1661	-			488			C2H2-type 12.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1462G>C	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	7.456	0.643769	0.14451	.	.	ENSG00000197020	ENST00000358296	T	0.07444	3.19	0.867	-0.405	0.12392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.31664	0.95	0.09310	N	1	P;P	0.46220	0.669;0.874	P;P	0.53760	0.706;0.734	T	0.27262	-1.0079	9	0.59425	D	0.04	.	4.4919	0.11817	0.0:0.5485:0.0:0.4515	.	488;542	Q8IYN0;Q4G131	ZN100_HUMAN;.	Q	488	ENSP00000351042:E488Q	ENSP00000351042:E488Q	E	-	1	0	ZNF100	21701492	0.000000	0.05858	0.423000	0.26634	0.426000	0.31534	-5.505000	0.00117	0.284000	0.22305	0.289000	0.19496	GAG		0.398	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1		NM_173531		11	85	0	0	0	0.028581	0	11	85		
WTIP	126374	broad.mit.edu	37	19	34983976	34983976	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:34983976G>C	ENST00000590071.2	+	3	1141	c.804G>C	c.(802-804)gtG>gtC	p.V268V	WTIP_ENST00000270288.6_Silent_p.V492V	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	268	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCTACAACGTGGGTGAGAAAG	0.627																																						uc002nvm.2		NaN																	0					0						c.(802-804)GTG>GTC		Wilms tumor 1 interacting protein							135.0	141.0	139.0					19																	34983976		2035	4196	6231	SO:0001819	synonymous_variant	126374							g.chr19:34983976G>C	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.804G>C	19.37:g.34983976G>C							p.V268V	NM_001080436	NP_001073905			LUSC - Lung squamous cell carcinoma(66;0.211)		3	804	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Silent	SNP	ENST00000590071.2	37	c.804G>C	CCDS59375.1																																																																																				0.627	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3		XM_059037		23	134	0	0	0	0.027356	0	23	134		
ZNF382	84911	broad.mit.edu	37	19	37117266	37117266	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:37117266C>A	ENST00000292928.2	+	5	580	c.467C>A	c.(466-468)cCc>cAc	p.P156H	ZNF382_ENST00000439428.1_Missense_Mutation_p.P155H|ZNF382_ENST00000423582.1_Missense_Mutation_p.P107H|ZNF382_ENST00000435416.1_Missense_Mutation_p.P155H|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	156	Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATATAAGCCCCATAAAAGAG	0.343																																						uc002oek.2		NaN																	0					0						c.(466-468)CCC>CAC		zinc finger protein 382							88.0	98.0	95.0					19																	37117266		2198	4299	6497	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117266C>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.467C>A	19.37:g.37117266C>A	ENSP00000292928:p.Pro156His					ZNF382_uc010efa.2_Missense_Mutation_p.P107H|ZNF382_uc010efb.2_Missense_Mutation_p.P155H|ZNF382_uc002oel.2_Missense_Mutation_p.P155H	p.P156H	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	580	+	Esophageal squamous(110;0.198)		156			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.467C>A	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	6.658	0.489963	0.12702	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.05649	3.41;3.56;3.57;3.57	4.83	4.83	0.62350	.	0.000000	0.42420	D	0.000718	T	0.02193	0.0068	N	0.01188	-0.97	0.30769	N	0.743249	B;B;B	0.22346	0.068;0.068;0.041	B;B;B	0.23419	0.046;0.046;0.021	T	0.22661	-1.0210	10	0.02654	T	1	.	13.618	0.62120	0.0:1.0:0.0:0.0	.	155;155;156	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	107;156;155;155	ENSP00000389722:P107H;ENSP00000292928:P156H;ENSP00000407593:P155H;ENSP00000410113:P155H	ENSP00000292928:P156H	P	+	2	0	ZNF382	41809106	0.000000	0.05858	0.971000	0.41717	0.702000	0.40608	0.535000	0.23114	2.678000	0.91216	0.563000	0.77884	CCC		0.343	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2		NM_032825		15	140	1	0	3.62473e-10	0.012319	3.99482e-10	15	140		
SIPA1L3	23094	broad.mit.edu	37	19	38673330	38673330	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:38673330G>C	ENST00000222345.6	+	16	4889	c.4380G>C	c.(4378-4380)aaG>aaC	p.K1460N	CTB-102L5.7_ENST00000594299.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1460					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGGTGGAAGAGAACGGAGG	0.642																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4378-4380)AAG>AAC		signal-induced proliferation-associated 1 like							48.0	57.0	53.0					19																	38673330		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38673330G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4380G>C	19.37:g.38673330G>C	ENSP00000222345:p.Lys1460Asn						p.K1460N	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		16	4889	+			1460					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4380G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254692	0.80135	.	.	ENSG00000105738	ENST00000222345	T	0.79653	-1.29	5.39	5.39	0.77823	.	0.360556	0.28538	N	0.014992	T	0.78641	0.4315	L	0.34521	1.04	0.45930	D	0.998768	D	0.54207	0.965	P	0.47528	0.549	T	0.81718	-0.0805	10	0.72032	D	0.01	-30.669	17.9144	0.88944	0.0:0.0:1.0:0.0	.	1460	O60292	SI1L3_HUMAN	N	1460	ENSP00000222345:K1460N	ENSP00000222345:K1460N	K	+	3	2	SIPA1L3	43365170	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.524000	0.45589	2.515000	0.84797	0.555000	0.69702	AAG		0.642	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		17	61	0	0	0	0.010504	0	17	61		
PSG1	5669	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T	rs375340094		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43382064C>T	ENST00000436291.2	-	2	547		c.e2+1		PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595124.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000244296.2_Splice_Site	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517																																						uc002ovb.2		NaN																	0				ovary(2)	2						c.e2+1		pregnancy specific beta-1-glycoprotein 1		C	,,	0,4402		0,0,2201	271.0	240.0	251.0		,,	0.6	0.0	19		251	1,8597		0,1,4298	no	splice-5,splice-5,splice-5	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	43382064	1,12999	2201	4299	6500	SO:0001630	splice_region_variant	5669				female pregnancy	extracellular region		g.chr19:43382064C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.430+1G>A	19.37:g.43382064C>T						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Splice_Site_p.P144_splice|PSG1_uc002ovc.2_Splice_Site_p.P144_splice|PSG1_uc002ovd.1_Splice_Site_p.L144_splice	p.L144_splice	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	568	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Splice_Site	SNP	ENST00000436291.2	37	c.430_splice	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	c	1.547	-0.540240	0.04053	0.0	1.16E-4	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.64	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.28820	N	0.897749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3141	0.10984	0.0:0.7851:0.0:0.2149	.	.	.	.	.	-1	.	.	.	-	.	.	PSG1	48073904	0.028000	0.19301	0.002000	0.10522	0.004000	0.04260	0.720000	0.25896	0.277000	0.22141	-1.206000	0.01644	.		0.517	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			Intron	127	204	0	0	0	0.01441	0	127	204		
PSG2	5670	broad.mit.edu	37	19	43575870	43575870	+	Silent	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43575870A>G	ENST00000406487.1	-	4	1044	c.946T>C	c.(946-948)Ttg>Ctg	p.L316L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	316	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTGACTGTCAACGATGTGGAG	0.458																																						uc002ovr.2		NaN																	0					0						c.(946-948)TTG>CTG		pregnancy specific beta-1-glycoprotein 2							178.0	182.0	181.0					19																	43575870		2203	4299	6502	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575870A>G		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.946T>C	19.37:g.43575870A>G						PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.L316L|PSG2_uc010eiq.1_Silent_p.L316L|PSG2_uc002ovs.3_Silent_p.L316L|PSG2_uc002ovt.3_Silent_p.L316L	p.L316L	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	1039	-		Prostate(69;0.00682)	316			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.946T>C	CCDS12616.1																																																																																				0.458	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1		NM_031246		37	243	0	0	0	0.036044	0	37	243		
XRCC1	7515	broad.mit.edu	37	19	44050093	44050093	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050093C>T	ENST00000262887.5	-	14	2045	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	XRCC1_ENST00000543982.1_Missense_Mutation_p.E469K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	500					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGTCTGTGTTCCTTCTGCTCT	0.627								Other BER factors																														uc002owt.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(1498-1500)GAA>AAA	Other_BER_factors	X-ray repair cross complementing protein 1							110.0	97.0	102.0					19																	44050093		2203	4299	6502	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44050093C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1498G>A	19.37:g.44050093C>T	ENSP00000262887:p.Glu500Lys					XRCC1_uc010xwp.1_Missense_Mutation_p.E469K	p.E500K	NM_006297	NP_006288	P18887	XRCC1_HUMAN			14	1618	-		Prostate(69;0.0153)	500					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1498G>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	7.164	0.586271	0.13749	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.02606	4.23;4.23	5.08	2.89	0.33648	.	0.477902	0.23142	N	0.051460	T	0.02688	0.0081	L	0.46157	1.445	0.31688	N	0.642239	B;B	0.26845	0.161;0.0	B;B	0.24394	0.053;0.001	T	0.17440	-1.0369	10	0.08599	T	0.76	-10.4051	8.5265	0.33309	0.0:0.7382:0.1732:0.0886	.	469;500	F5H8D7;P18887	.;XRCC1_HUMAN	K	514;500;469	ENSP00000262887:E500K;ENSP00000443671:E469K	ENSP00000262887:E500K	E	-	1	0	XRCC1	48741933	0.441000	0.25626	0.735000	0.30896	0.045000	0.14185	0.387000	0.20718	1.400000	0.46741	0.655000	0.94253	GAA		0.627	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1		NM_006297		4	35	0	0	0	0.014758	0	4	35		
XRCC1	7515	broad.mit.edu	37	19	44050097	44050097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050097C>T	ENST00000262887.5	-	14	2041	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	XRCC1_ENST00000543982.1_Silent_p.Q467Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	498					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGTGTTCCTTCTGCTCTGCCA	0.632								Other BER factors																														uc002owt.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(1492-1494)CAG>CAA	Other_BER_factors	X-ray repair cross complementing protein 1							108.0	95.0	99.0					19																	44050097		2203	4299	6502	SO:0001819	synonymous_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44050097C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1494G>A	19.37:g.44050097C>T						XRCC1_uc010xwp.1_Silent_p.Q467Q	p.Q498Q	NM_006297	NP_006288	P18887	XRCC1_HUMAN			14	1614	-		Prostate(69;0.0153)	498					Q6IBS4|Q9HCB1	Silent	SNP	ENST00000262887.5	37	c.1494G>A	CCDS12624.1																																																																																				0.632	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1		NM_006297		5	34	0	0	0	0.021553	0	5	34		
XRCC1	7515	broad.mit.edu	37	19	44051059	44051059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44051059C>T	ENST00000262887.5	-	11	1817	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	XRCC1_ENST00000543982.1_Missense_Mutation_p.E393K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	424					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TTGGGGGCTTCATCTCCGCTG	0.607								Other BER factors																														uc002owt.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(1270-1272)GAA>AAA	Other_BER_factors	X-ray repair cross complementing protein 1							63.0	62.0	62.0					19																	44051059		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44051059C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1270G>A	19.37:g.44051059C>T	ENSP00000262887:p.Glu424Lys					XRCC1_uc010xwp.1_Missense_Mutation_p.E393K	p.E424K	NM_006297	NP_006288	P18887	XRCC1_HUMAN			11	1390	-		Prostate(69;0.0153)	424					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1270G>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275407	0.59649	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.03272	4.0;3.99	5.19	5.19	0.71726	.	0.682620	0.15141	N	0.278293	T	0.07413	0.0187	M	0.72894	2.215	0.48975	D	0.999739	B;D	0.54207	0.447;0.965	B;B	0.43508	0.168;0.422	T	0.46596	-0.9180	10	0.15952	T	0.53	-17.0454	14.9526	0.71086	0.0:1.0:0.0:0.0	.	393;424	F5H8D7;P18887	.;XRCC1_HUMAN	K	438;424;393	ENSP00000262887:E424K;ENSP00000443671:E393K	ENSP00000262887:E424K	E	-	1	0	XRCC1	48742899	0.997000	0.39634	0.995000	0.50966	0.723000	0.41478	2.022000	0.41030	2.804000	0.96469	0.655000	0.94253	GAA		0.607	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1		NM_006297		22	97	0	0	0	0.021523	0	22	97		
MYPOP	339344	broad.mit.edu	37	19	46393972	46393972	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:46393972G>A	ENST00000322217.5	-	3	1195	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GAGCGGGGCTGGGGGGGGCCG	0.662																																						uc002pdt.2		NaN																	1	Insertion - Frameshift(1)		large_intestine(1)		0						c.(1108-1110)CCA>CTA		Myb protein P42POP							6.0	8.0	7.0					19																	46393972		2061	4148	6209	SO:0001583	missense	339344					nucleus	DNA binding	g.chr19:46393972G>A	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1109C>T	19.37:g.46393972G>A	ENSP00000325402:p.Pro370Leu						p.P370L	NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN			3	1196	-			370			Pro-rich.			Missense_Mutation	SNP	ENST00000322217.5	37	c.1109C>T	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262422	0.23051	.	.	ENSG00000176182	ENST00000322217	T	0.44881	0.91	4.48	2.18	0.27775	.	0.128359	0.32106	N	0.006579	T	0.21881	0.0527	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12528	-1.0544	10	0.20046	T	0.44	-0.015	5.6604	0.17667	0.1071:0.0:0.7021:0.1908	.	370	Q86VE0	MYPOP_HUMAN	L	370	ENSP00000325402:P370L	ENSP00000325402:P370L	P	-	2	0	MYPOP	51085812	0.996000	0.38824	0.249000	0.24280	0.111000	0.19643	1.358000	0.34102	0.811000	0.34303	0.650000	0.86243	CCA		0.662	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1		NM_001012643		3	9	0	0	0	0.004672	0	3	9		
TRPM4	54795	broad.mit.edu	37	19	49674990	49674990	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:49674990C>G	ENST00000252826.5	+	8	1140	c.1014C>G	c.(1012-1014)ttC>ttG	p.F338L	TRPM4_ENST00000427978.2_Missense_Mutation_p.F338L|TRPM4_ENST00000355712.5_Missense_Mutation_p.F55L|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	338					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCAGGCGTTTCTTTCCCAAAG	0.642																																						uc002pmw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1012-1014)TTC>TTG		transient receptor potential cation channel,							31.0	33.0	32.0					19																	49674990		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49674990C>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1014C>G	19.37:g.49674990C>G	ENSP00000252826:p.Phe338Leu					TRPM4_uc010emu.2_Missense_Mutation_p.F338L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.F164L|TRPM4_uc010emv.2_Missense_Mutation_p.F223L|TRPM4_uc010yal.1_Missense_Mutation_p.F55L	p.F338L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	8	1086	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	338			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1014C>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608086	0.46527	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.59224	1.32;1.32;0.28	5.05	3.87	0.44632	.	0.494853	0.20261	N	0.095868	T	0.35799	0.0944	N	0.21194	0.64	0.23492	N	0.997564	P;P;B;B	0.37061	0.58;0.562;0.419;0.105	B;B;B;B	0.35278	0.098;0.199;0.199;0.025	T	0.14392	-1.0474	10	0.11794	T	0.64	-20.055	6.7908	0.23699	0.0:0.7492:0.0:0.2508	.	55;164;338;338	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	338;338;55	ENSP00000252826:F338L;ENSP00000407492:F338L;ENSP00000347944:F55L	ENSP00000252826:F338L	F	+	3	2	TRPM4	54366802	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.828000	0.27435	1.023000	0.39654	0.591000	0.81541	TTC		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2		NM_017636		17	24	0	0	0	0.007413	0	17	24		
ETFB	2109	broad.mit.edu	37	19	51856530	51856530	+	Silent	SNP	G	G	A	rs147509776		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51856530G>A	ENST00000309244.4	-	3	322	c.231C>T	c.(229-231)acC>acT	p.T77T	ETFB_ENST00000354232.4_Silent_p.T168T|CTD-2616J11.11_ENST00000600067.1_3'UTR|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.647																																						uc002pwh.2		NaN																	0					0						c.(229-231)ACC>ACT		electron-transfer-flavoprotein, beta polypeptide			,	1,4405	2.1+/-5.4	0,1,2202	85.0	76.0	79.0		504,231	-10.4	0.0	19	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ETFB	NM_001014763.1,NM_001985.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	168/347,77/256	51856530	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2109				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	g.chr19:51856530G>A	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.231C>T	19.37:g.51856530G>A						ETFB_uc002pwg.2_Silent_p.T168T	p.T77T	NM_001985	NP_001976	P38117	ETFB_HUMAN		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)	3	323	-		all_neural(266;0.0199)	77					A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	ENST00000309244.4	37	c.231C>T	CCDS12828.1																																																																																				0.647	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1				10	93	0	0	0	0.016723	0	10	93		
NKG7	4818	broad.mit.edu	37	19	51875508	51875508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51875508C>T	ENST00000221978.5	-	2	390	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	NKG7_ENST00000595217.1_Intron|NKG7_ENST00000600427.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	71						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCACGGACACCAGGGCCCAC	0.617																																						uc002pwj.2		NaN																	0				central_nervous_system(1)	1						c.(211-213)GTG>ATG		natural killer cell group 7 sequence							154.0	142.0	146.0					19																	51875508		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875508C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.211G>A	19.37:g.51875508C>T	ENSP00000221978:p.Val71Met					NKG7_uc002pwk.2_Intron	p.V71M	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	382	-		all_neural(266;0.0199)	71			Helical; (Potential).			Missense_Mutation	SNP	ENST00000221978.5	37	c.211G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020962	0.35606	.	.	ENSG00000105374	ENST00000221978	D	0.89270	-2.49	4.88	2.63	0.31362	.	0.428210	0.18038	N	0.153707	D	0.90177	0.6930	M	0.63843	1.955	0.33316	D	0.566684	D	0.53462	0.96	P	0.59221	0.854	D	0.90344	0.4361	10	0.72032	D	0.01	-2.1618	5.1283	0.14896	0.0:0.6448:0.2335:0.1217	.	71	Q16617	NKG7_HUMAN	M	71	ENSP00000221978:V71M	ENSP00000221978:V71M	V	-	1	0	NKG7	56567320	0.127000	0.22367	0.886000	0.34754	0.017000	0.09413	-0.262000	0.08682	1.258000	0.44101	0.491000	0.48974	GTG		0.617	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2		NM_005601		47	117	0	0	0	0.01441	0	47	117		
ZNF845	91664	broad.mit.edu	37	19	53854452	53854452	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:53854452C>G	ENST00000595091.1	+	5	743	c.524C>G	c.(523-525)tCa>tGa	p.S175*	ZNF845_ENST00000458035.1_Nonsense_Mutation_p.S175*			Q96IR2	ZN845_HUMAN	zinc finger protein 845	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGTTGGTTTCAACATCCCAA	0.388																																						uc010ydv.1		NaN																	0					0						c.(523-525)TCA>TGA		zinc finger protein 845							67.0	48.0	54.0					19																	53854452		692	1591	2283	SO:0001587	stop_gained	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854452C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.524C>G	19.37:g.53854452C>G	ENSP00000470005:p.Ser175*					ZNF845_uc010ydw.1_Nonsense_Mutation_p.S175*	p.S175*	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	641	+			175						Nonsense_Mutation	SNP	ENST00000595091.1	37	c.524C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337244	0.41398	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	.	.	.	1.2	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.2259	0.20708	0.2966:0.7034:0.0:0.0	.	.	.	.	X	175	.	ENSP00000412086:S175X	S	+	2	0	ZNF845	58546264	0.006000	0.16342	0.004000	0.12327	0.034000	0.12701	-0.264000	0.08658	0.960000	0.38005	0.411000	0.27672	TCA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		17	55	0	0	0	0.0333	0	17	55		
ZIK1	284307	broad.mit.edu	37	19	58101751	58101751	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:58101751G>A	ENST00000597850.1	+	4	787	c.572G>A	c.(571-573)gGc>gAc	p.G191D	ZIK1_ENST00000536878.2_Missense_Mutation_p.G178D|ZIK1_ENST00000599456.1_Missense_Mutation_p.G136D|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCTGGAGGCAAGAAACCC	0.498																																						uc002qpg.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(571-573)GGC>GAC		zinc finger protein interacting with K protein							68.0	68.0	68.0					19																	58101751		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101751G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.572G>A	19.37:g.58101751G>A	ENSP00000472867:p.Gly191Asp					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.G136D|ZIK1_uc002qpi.2_Missense_Mutation_p.G178D|ZIK1_uc002qpj.2_Missense_Mutation_p.G88D	p.G191D	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	669	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	191					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.572G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	3.554	-0.090992	0.07053	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.04862	3.54	2.88	-5.77	0.02369	.	.	.	.	.	T	0.08358	0.0208	M	0.86028	2.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38373	-0.9664	9	0.72032	D	0.01	.	1.8691	0.03204	0.1566:0.4236:0.1522:0.2676	.	178;191	F5H435;Q3SY52	.;ZIK1_HUMAN	D	178;172;191	ENSP00000438487:G178D	ENSP00000303820:G191D	G	+	2	0	ZIK1	62793563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.335000	0.07873	-2.096000	0.00852	-1.497000	0.00963	GGC		0.498	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1		NM_001010879		39	57	0	0	0	0.011902	0	39	57		
PDIA6	10130	broad.mit.edu	37	2	10952816	10952816	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:10952816G>A	ENST00000272227.3	-	1	154	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PDIA6_ENST00000540494.1_5'UTR|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404824.2_Intron|RNU7-176P_ENST00000458792.1_RNA|PDIA6_ENST00000404371.2_Intron|PDIA6_ENST00000381611.4_Intron	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AGCACCAGGAGAGCCATGCCG	0.766																																					GBM(73;509 1219 34219 41343 41551)	uc002rau.2		NaN																	0					0						c.(7-9)CTC>TTC		protein disulfide isomerase A6 precursor							5.0	7.0	6.0					2																	10952816		2021	4027	6048	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10952816G>A	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.7C>T	2.37:g.10952816G>A	ENSP00000272227:p.Leu3Phe					PDIA6_uc010yjg.1_5'UTR|PDIA6_uc002rav.2_Intron|PDIA6_uc010yjh.1_Intron|PDIA6_uc002raw.2_Intron	p.L3F	NM_005742	NP_005733	Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	1	145	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		3					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.7C>T	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	2.206	-0.381881	0.04966	.	.	ENSG00000143870	ENST00000272227	T	0.05447	3.44	4.12	1.01	0.19927	Thioredoxin-like fold (1);	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.30797	N	0.740283	B	0.06786	0.001	B	0.04013	0.001	T	0.35151	-0.9800	9	0.31617	T	0.26	.	5.696	0.17855	0.1178:0.4265:0.4557:0.0	.	3	Q15084	PDIA6_HUMAN	F	3	ENSP00000272227:L3F	ENSP00000272227:L3F	L	-	1	0	PDIA6	10870267	0.152000	0.22762	0.572000	0.28498	0.047000	0.14425	0.473000	0.22132	0.364000	0.24374	0.313000	0.20887	CTC		0.766	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1		NM_005742		3	11	0	0	0	0.014758	0	3	11		
OTOF	9381	broad.mit.edu	37	2	26706500	26706500	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:26706500C>T	ENST00000272371.2	-	13	1348	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	OTOF_ENST00000403946.3_Missense_Mutation_p.E408K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACCCCCTCGGGGAGCAGC	0.607																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1222-1224)GAG>AAG		otoferlin isoform a							31.0	31.0	31.0					2																	26706500		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706500C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1222G>A	2.37:g.26706500C>T	ENSP00000272371:p.Glu408Lys						p.E408K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1349	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		408			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1222G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669583	0.67814	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80304	-1.36;-1.36	5.22	5.22	0.72569	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.216151	0.49305	D	0.000145	T	0.71091	0.3299	L	0.37750	1.13	0.80722	D	1	P	0.41131	0.739	B	0.38378	0.272	T	0.70353	-0.4895	10	0.06099	T	0.92	-25.996	18.4462	0.90685	0.0:1.0:0.0:0.0	.	408	Q9HC10	OTOF_HUMAN	K	408	ENSP00000272371:E408K;ENSP00000385255:E408K	ENSP00000272371:E408K	E	-	1	0	OTOF	26560004	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.863000	0.62983	2.454000	0.82982	0.638000	0.83543	GAG		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				7	23	0	0	0	0.004482	0	7	23		
VIT	5212	broad.mit.edu	37	2	36982074	36982074	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:36982074G>C	ENST00000389975.3	+	5	588	c.286G>C	c.(286-288)Gat>Cat	p.D96H	VIT_ENST00000379242.3_Missense_Mutation_p.D96H|VIT_ENST00000457137.2_Missense_Mutation_p.D96H|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.D96H|VIT_ENST00000404084.1_Missense_Mutation_p.D74H|VIT_ENST00000401530.1_Missense_Mutation_p.D96H	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	96	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGTGTGCTTGATAATTCAGG	0.393																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(286-288)GAT>CAT		vitrin							155.0	145.0	148.0					2																	36982074		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982074G>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.286G>C	2.37:g.36982074G>C	ENSP00000374625:p.Asp96His					VIT_uc002rpk.2_Missense_Mutation_p.D89H|VIT_uc010ynf.1_Missense_Mutation_p.D89H|VIT_uc002rpm.2_Missense_Mutation_p.D89H|VIT_uc010ezv.2_Missense_Mutation_p.D89H|VIT_uc010ezw.2_Missense_Mutation_p.D89H	p.D96H	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			5	507	+		all_hematologic(82;0.248)	96			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.286G>C	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145728	0.57044	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.63	2.89	0.33648	LCCL (5);	0.314570	0.38217	N	0.001775	D	0.94512	0.8233	M	0.83223	2.63	0.37975	D	0.933412	D;D;D;D;D;D	0.89917	0.998;0.998;0.993;0.998;0.998;1.0	D;D;P;D;D;D	0.75484	0.973;0.965;0.896;0.965;0.957;0.986	D	0.93994	0.7269	10	0.56958	D	0.05	-4.6397	10.2808	0.43539	0.2126:0.0:0.7874:0.0	.	96;96;96;96;96;96	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	H	96;96;96;96;74;96;96	ENSP00000368544:D96H;ENSP00000374625:D96H;ENSP00000393561:D96H;ENSP00000384154:D74H;ENSP00000368543:D96H;ENSP00000385658:D96H	ENSP00000368543:D96H	D	+	1	0	VIT	36835578	0.984000	0.35163	0.565000	0.28409	0.889000	0.51656	1.537000	0.36083	0.338000	0.23692	0.655000	0.94253	GAT		0.393	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					34	40	0	0	0	0.036044	0	34	40		
CALM2	805	broad.mit.edu	37	2	47389450	47389450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:47389450C>G	ENST00000272298.7	-	4	417	c.260G>C	c.(259-261)aGa>aCa	p.R87T	CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_Missense_Mutation_p.R134T|RP11-761B3.1_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	87	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GAATGCTTCTCTAATTTCTTC	0.368																																						uc002rvt.2		NaN																	2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)		0						c.(259-261)AGA>ACA		calmodulin 2	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						116.0	103.0	108.0					2																	47389450		2203	4300	6503	SO:0001583	missense	805				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr2:47389450C>G		CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.260G>C	2.37:g.47389450C>G	ENSP00000272298:p.Arg87Thr					C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	p.R87T	NM_001743	NP_001734	P62158	CALM_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		4	418	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	87			EF-hand 3.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	c.260G>C	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058991	0.55325	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	D;D;D	0.83992	-1.79;-1.79;-1.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.90772	0.7103	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91308	0.5072	7	0.87932	D	0	.	19.4812	0.95011	0.0:1.0:0.0:0.0	.	.	.	.	T	87;125;134	ENSP00000272298:R87T;ENSP00000411440:R125T;ENSP00000387065:R134T	ENSP00000272298:R87T	R	-	2	0	CALM2	47242954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.697000	0.92050	0.591000	0.81541	AGA		0.368	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3		NM_001743		6	43	0	0	0	0.004482	0	6	43		
EVA1A	84141	broad.mit.edu	37	2	75720637	75720637	+	Missense_Mutation	SNP	C	C	G	rs150035696	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:75720637C>G	ENST00000233712.1	-	4	621	c.184G>C	c.(184-186)Gac>Cac	p.D62H	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Missense_Mutation_p.D62H|EVA1A_ENST00000410010.1_Missense_Mutation_p.D50H|EVA1A_ENST00000410071.1_Missense_Mutation_p.D62H|EVA1A_ENST00000410113.1_Missense_Mutation_p.D62H	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	62					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGCCTGCAGTCTGTGTGGCAA	0.587																																						uc002sni.2		NaN																	0					0						c.(184-186)GAC>CAC		family with sequence similarity 176, member A							48.0	44.0	45.0					2																	75720637		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720637C>G	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.184G>C	2.37:g.75720637C>G	ENSP00000233712:p.Asp62His					FAM176A_uc002snj.1_Missense_Mutation_p.D49H|FAM176A_uc002snk.1_Missense_Mutation_p.D62H	p.D62H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			4	662	-			62					D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.184G>C	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532765	0.64972	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67229	-0.5723	10	0.49607	T	0.09	-9.9292	16.3808	0.83460	0.0:1.0:0.0:0.0	.	62	Q9H8M9	F176A_HUMAN	H	62;62;62;50;62;62;62	ENSP00000377490:D62H;ENSP00000233712:D62H;ENSP00000386435:D62H;ENSP00000386835:D50H;ENSP00000386930:D62H;ENSP00000398249:D62H;ENSP00000388105:D62H	ENSP00000233712:D62H	D	-	1	0	FAM176A	75574145	1.000000	0.71417	0.952000	0.39060	0.430000	0.31655	7.536000	0.82023	2.626000	0.88956	0.650000	0.86243	GAC		0.587	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1		NM_032181		12	54	0	0	0	0.010729	0	12	54		
SEMA4C	54910	broad.mit.edu	37	2	97531659	97531659	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:97531659C>A	ENST00000305476.5	-	4	398	c.266G>T	c.(265-267)tGg>tTg	p.W89L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	89	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGGCCTCCCAGGAGATCTG	0.597																																						uc002sxh.3		NaN																	0				skin(2)	2						c.(265-267)TGG>TTG		semaphorin 4C precursor							82.0	91.0	88.0					2																	97531659		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97531659C>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.266G>T	2.37:g.97531659C>A	ENSP00000306844:p.Trp89Leu					SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.W142L	p.W89L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			4	426	-			89			Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.266G>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423764	0.83667	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.12569	2.67;2.67;2.67	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28808	-1.0032	10	0.87932	D	0	.	15.6279	0.76878	0.0:1.0:0.0:0.0	.	89	Q9C0C4	SEM4C_HUMAN	L	89	ENSP00000306844:W89L;ENSP00000393498:W89L;ENSP00000391094:W89L	ENSP00000306844:W89L	W	-	2	0	SEMA4C	96895386	1.000000	0.71417	0.999000	0.59377	0.573000	0.36030	7.019000	0.76412	2.425000	0.82216	0.448000	0.29417	TGG		0.597	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1		NM_017789		11	113	1	0	7.93312e-07	0.020292	8.41461e-07	11	113		
TMEM87B	84910	broad.mit.edu	37	2	112838657	112838657	+	Missense_Mutation	SNP	C	C	T	rs151250123		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838657C>T	ENST00000283206.4	+	7	985	c.616C>T	c.(616-618)Cat>Tat	p.H206Y		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	206						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GATTGGGCCTCATGGATATAT	0.333																																						uc002thm.2		NaN																	0					0						c.(616-618)CAT>TAT		transmembrane protein 87B precursor		C	TYR/HIS	0,4406		0,0,2203	228.0	220.0	223.0		616	4.1	1.0	2	dbSNP_134	223	3,8597	2.2+/-6.3	0,3,4297	no	missense	TMEM87B	NM_032824.2	83	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	206/556	112838657	3,13003	2203	4300	6503	SO:0001583	missense	84910					integral to membrane		g.chr2:112838657C>T	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.616C>T	2.37:g.112838657C>T	ENSP00000283206:p.His206Tyr					TMEM87B_uc010fkg.2_Missense_Mutation_p.H189Y|TMEM87B_uc010fkh.2_3'UTR	p.H206Y	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			7	985	+			206					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.616C>T	CCDS33275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.197|6.197	0.404461|0.404461	0.11754|0.11754	0.0|0.0	3.49E-4|3.49E-4	ENSG00000153214|ENSG00000153214	ENST00000283206|ENST00000452614	.|.	.|.	.|.	5.94|5.94	4.13|4.13	0.48395|0.48395	.|.	0.139751|.	0.64402|.	N|.	0.000004|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.16233|0.16233	0.39|0.39	0.54753|0.54753	D|D	0.999988|0.999988	B;B|.	0.13145|.	0.007;0.002|.	B;B|.	0.15052|.	0.012;0.009|.	T|T	0.11299|0.11299	-1.0593|-1.0593	9|5	0.07990|.	T|.	0.79|.	-5.7215|-5.7215	9.2625|9.2625	0.37621|0.37621	0.1453:0.7789:0.0:0.0758|0.1453:0.7789:0.0:0.0758	.|.	205;206|.	Q96K49-2;Q96K49|.	.;TM87B_HUMAN|.	Y|L	206|146	.|.	ENSP00000283206:H206Y|.	H|S	+|+	1|2	0|0	TMEM87B|TMEM87B	112555128|112555128	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	3.270000|3.270000	0.51600|0.51600	0.821000|0.821000	0.34540|0.34540	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.333	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1		NM_032824		25	46	0	0	0	0.036044	0	25	46		
TMEM87B	84910	broad.mit.edu	37	2	112838676	112838676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838676C>G	ENST00000283206.4	+	7	1004	c.635C>G	c.(634-636)tCa>tGa	p.S212*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	212						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATCTCTGCATCAGATTGGCCC	0.328																																						uc002thm.2		NaN																	0					0						c.(634-636)TCA>TGA		transmembrane protein 87B precursor							231.0	219.0	223.0					2																	112838676		2203	4300	6503	SO:0001587	stop_gained	84910					integral to membrane		g.chr2:112838676C>G	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.635C>G	2.37:g.112838676C>G	ENSP00000283206:p.Ser212*					TMEM87B_uc010fkg.2_Nonsense_Mutation_p.S195*|TMEM87B_uc010fkh.2_3'UTR	p.S212*	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			7	1004	+			212					A8K2M9|Q1RLN2|Q53R54	Nonsense_Mutation	SNP	ENST00000283206.4	37	c.635C>G	CCDS33275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.913718|7.913718	0.98557|0.98557	.|.	.|.	ENSG00000153214|ENSG00000153214	ENST00000452614|ENST00000283206	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.118710	.|0.64402	.|D	.|0.000020	T|.	0.71508|.	0.3348|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66296|.	-0.5959|.	3|.	.|0.30078	.|T	.|0.28	-7.6935|-7.6935	17.8439|17.8439	0.88724|0.88724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	M|X	152|212	.|.	.|ENSP00000283206:S212X	I|S	+|+	3|2	3|0	TMEM87B|TMEM87B	112555147|112555147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.349000|7.349000	0.79376|0.79376	2.807000|2.807000	0.96579|0.96579	0.650000|0.650000	0.86243|0.86243	ATC|TCA		0.328	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1		NM_032824		27	44	0	0	0	0.011902	0	27	44		
TMEM87B	84910	broad.mit.edu	37	2	112839041	112839041	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112839041G>C	ENST00000283206.4	+	8	1153	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	262						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GGGAATGCTTGAAAAAGCAGT	0.358																																						uc002thm.2		NaN																	0					0						c.(784-786)GAA>CAA		transmembrane protein 87B precursor							122.0	132.0	128.0					2																	112839041		2203	4300	6503	SO:0001583	missense	84910					integral to membrane		g.chr2:112839041G>C	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.784G>C	2.37:g.112839041G>C	ENSP00000283206:p.Glu262Gln					TMEM87B_uc010fkg.2_Missense_Mutation_p.E245Q|TMEM87B_uc010fkh.2_3'UTR	p.E262Q	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			8	1153	+			262			Helical; (Potential).		A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.784G>C	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232412	0.95207	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.85	5.85	0.93711	.	0.045191	0.85682	D	0.000000	D	0.84147	0.5408	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	D	0.85980	0.1482	9	0.87932	D	0	-21.6552	17.6562	0.88178	0.0:0.0:1.0:0.0	.	261;262	Q96K49-2;Q96K49	.;TM87B_HUMAN	Q	262	.	ENSP00000283206:E262Q	E	+	1	0	TMEM87B	112555512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.764000	0.94973	0.591000	0.81541	GAA		0.358	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1		NM_032824		44	77	0	0	0	0.01441	0	44	77		
SCTR	6344	broad.mit.edu	37	2	120231035	120231035	+	Missense_Mutation	SNP	C	C	G	rs142755533		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:120231035C>G	ENST00000019103.5	-	4	666	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AC013275.2_ENST00000413602.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	133					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTACCCGCTTCTCGTTGGAAG	0.592																																						uc002tma.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(397-399)GAG>GAC		secretin receptor precursor	Secretin(DB00021)						78.0	72.0	74.0					2																	120231035		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120231035C>G		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.399G>C	2.37:g.120231035C>G	ENSP00000019103:p.Glu133Asp					SCTR_uc002tlz.2_5'UTR	p.E133D	NM_002980	NP_002971	P47872	SCTR_HUMAN			4	625	-			133			Extracellular (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.399G>C	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	6.732	0.503737	0.12822	.	.	ENSG00000080293	ENST00000019103	T	0.47528	0.84	5.04	2.08	0.27032	.	0.000000	0.64402	D	0.000016	T	0.34077	0.0885	L	0.43757	1.38	0.34918	D	0.748147	B	0.09022	0.002	B	0.13407	0.009	T	0.33471	-0.9867	10	0.20046	T	0.44	.	8.3331	0.32197	0.2779:0.6433:0.0:0.0788	.	133	P47872	SCTR_HUMAN	D	133	ENSP00000019103:E133D	ENSP00000019103:E133D	E	-	3	2	SCTR	119947505	0.969000	0.33509	0.996000	0.52242	0.356000	0.29392	0.774000	0.26675	1.309000	0.44985	0.561000	0.74099	GAG		0.592	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2				12	28	0	0	0	0.016723	0	12	28		
SMPD4	55627	broad.mit.edu	37	2	130911366	130911366	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:130911366G>C	ENST00000409031.1	-	17	3067	c.1919C>G	c.(1918-1920)gCc>gGc	p.A640G	SMPD4_ENST00000453750.1_Missense_Mutation_p.A389G|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000443958.2_Missense_Mutation_p.A304G|SMPD4_ENST00000452225.2_Missense_Mutation_p.A381G|SMPD4_ENST00000426662.2_Missense_Mutation_p.A276G|SMPD4_ENST00000339679.7_Missense_Mutation_p.A498G|SMPD4_ENST00000351288.6_Missense_Mutation_p.A611G|SMPD4_ENST00000431183.2_Missense_Mutation_p.A538G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	601					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGGTCGTTGGCTGTGTAGGA	0.592																																						uc002tqq.1		NaN																	0					0						c.(1918-1920)GCC>GGC		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						75.0	75.0	75.0					2																	130911366		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911366G>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1919C>G	2.37:g.130911366G>C	ENSP00000386531:p.Ala640Gly					SMPD4_uc002tqo.1_Missense_Mutation_p.A172G|SMPD4_uc002tqp.1_Missense_Mutation_p.A379G|SMPD4_uc010yzy.1_Missense_Mutation_p.A389G|SMPD4_uc010yzz.1_Missense_Mutation_p.A304G|SMPD4_uc002tqr.1_Missense_Mutation_p.A611G|SMPD4_uc002tqs.1_Missense_Mutation_p.A508G|SMPD4_uc002tqt.1_Missense_Mutation_p.A489G|SMPD4_uc010zaa.1_Missense_Mutation_p.A498G|SMPD4_uc010zab.1_Missense_Mutation_p.A538G|SMPD4_uc010zac.1_Missense_Mutation_p.A381G|SMPD4_uc010zad.1_Missense_Mutation_p.A276G	p.A640G	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			17	2439	-	Colorectal(110;0.1)		601					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1919C>G	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.012|0.012	-1.677270|-1.677270	0.00751|0.00751	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159|ENST00000439886	.|.	.|.	.|.	3.94|3.94	2.05|2.05	0.26809|0.26809	.|.	0.365848|.	0.29246|.	N|.	0.012717|.	T|T	0.12390|0.12390	0.0301|0.0301	N|N	0.01289|0.01289	-0.905|-0.905	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001;0.0;0.001;0.0;0.0;0.001;0.001|.	B;B;B;B;B;B;B;B;B;B|.	0.09377|.	0.003;0.004;0.002;0.001;0.001;0.001;0.0;0.0;0.0;0.004|.	T|T	0.25641|0.25641	-1.0126|-1.0126	9|5	0.07990|.	T|.	0.79|.	.|.	11.7744|11.7744	0.51977|0.51977	0.0:0.5327:0.4673:0.0|0.0:0.5327:0.4673:0.0	.|.	276;381;538;498;389;572;601;640;647;172|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	G|A	611;640;538;389;304;498;381;276;237;150|515	.|.	ENSP00000339721:A498G|.	A|P	-|-	2|1	0|0	SMPD4|SMPD4	130627836|130627836	0.535000|0.535000	0.26370|0.26370	0.092000|0.092000	0.20876|0.20876	0.008000|0.008000	0.06430|0.06430	0.751000|0.751000	0.26348|0.26348	0.132000|0.132000	0.18615|0.18615	-0.273000|-0.273000	0.10243|0.10243	GCC|CCA		0.592	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3		NM_017751		196	129	0	0	0	0.01441	0	196	129		
LCT	3938	broad.mit.edu	37	2	136566130	136566130	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:136566130C>T	ENST00000264162.2	-	8	3797	c.3787G>A	c.(3787-3789)Gag>Aag	p.E1263K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1263	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCACCATACTCTTCCTTGATC	0.537																																						uc002tuu.1		NaN																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3787-3789)GAG>AAG		lactase-phlorizin hydrolase preproprotein							196.0	165.0	176.0					2																	136566130		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566130C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3787G>A	2.37:g.136566130C>T	ENSP00000264162:p.Glu1263Lys						p.E1263K	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3798	-			1263			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3787G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878668	0.91740	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50813	0.73	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60677	-0.7216	10	0.54805	T	0.06	-33.0153	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1263	P09848	LPH_HUMAN	K	1263;695	ENSP00000264162:E1263K	ENSP00000264162:E1263K	E	-	1	0	LCT	136282600	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.088000	0.71371	2.786000	0.95864	0.563000	0.77884	GAG		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299		85	76	0	0	0	0.01441	0	85	76		
PKP4	8502	broad.mit.edu	37	2	159481626	159481626	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:159481626C>T	ENST00000389759.3	+	7	952	c.840C>T	c.(838-840)gcC>gcT	p.A280A	PKP4_ENST00000389757.3_Silent_p.A280A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	280					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGAGACCCGCCTCCCCAACAG	0.612										HNSCC(62;0.18)																												uc002tzv.2		NaN																	0				ovary(5)|skin(2)	7						c.(838-840)GCC>GCT		plakophilin 4 isoform a							48.0	47.0	48.0					2																	159481626		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159481626C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.840C>T	2.37:g.159481626C>T		HNSCC(62;0.18)				PKP4_uc002tzt.1_Silent_p.A132A|PKP4_uc002tzu.2_Silent_p.A280A|PKP4_uc002tzw.2_Silent_p.A280A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.A278A|PKP4_uc002uaa.2_Silent_p.A132A	p.A280A	NM_003628	NP_003619	Q99569	PKP4_HUMAN			7	1100	+			280					Q86W91	Silent	SNP	ENST00000389759.3	37	c.840C>T	CCDS33305.1																																																																																				0.612	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1				10	48	0	0	0	0.008291	0	10	48		
HOXD3	3232	broad.mit.edu	37	2	177034235	177034235	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:177034235C>A	ENST00000468418.3	+	3	2483	c.393C>A	c.(391-393)ccC>ccA	p.P131P	HOXD3_ENST00000410016.1_Silent_p.P131P|HOXD3_ENST00000249440.3_Silent_p.P131P			P31249	HXD3_HUMAN	homeobox D3	131					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		catcttcacccACCAATCCTG	0.627																																						uc002ukt.1		NaN																	0					0						c.(391-393)CCC>CCA		homeobox D3							56.0	59.0	58.0					2																	177034235		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034235C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.393C>A	2.37:g.177034235C>A							p.P131P	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	2	569	+			131					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.393C>A	CCDS2270.1																																																																																				0.627	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4				10	61	1	0	3.86212e-05	0.008291	4.0267e-05	10	61		
PDE11A	50940	broad.mit.edu	37	2	178936390	178936390	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:178936390C>G	ENST00000286063.6	-	1	1092	c.775G>C	c.(775-777)Gat>Cat	p.D259H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	259	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCATGCACATCAAAGAATTTG	0.532									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(775-777)GAT>CAT		phosphodiesterase 11A isoform 4							75.0	71.0	72.0					2																	178936390		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936390C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.775G>C	2.37:g.178936390C>G	ENSP00000286063:p.Asp259His					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.D259H	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	1093	-			259			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.775G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414164	0.83449	.	.	ENSG00000128655	ENST00000286063	T	0.69685	-0.42	5.52	5.52	0.82312	GAF (2);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85210	0.1020	10	0.87932	D	0	.	18.4131	0.90559	0.0:1.0:0.0:0.0	.	259	Q9HCR9	PDE11_HUMAN	H	259	ENSP00000286063:D259H	ENSP00000286063:D259H	D	-	1	0	PDE11A	178644636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.441000	0.80485	2.590000	0.87494	0.655000	0.94253	GAT		0.532	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				14	32	0	0	0	0.020292	0	14	32		
TTN	7273	broad.mit.edu	37	2	179587610	179587610	+	Missense_Mutation	SNP	G	G	A	rs72648966		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179587610G>A	ENST00000591111.1	-	74	21289	c.21065C>T	c.(21064-21066)tCg>tTg	p.S7022L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6095L|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S7339L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12606	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAGAAACCGAATCTCCAAC	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18283-18285)TCG>TTG		titin isoform N2-A							44.0	45.0	44.0					2																	179587610		1986	4169	6155	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587610G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21065C>T	2.37:g.179587610G>A	ENSP00000465570:p.Ser7022Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2756L	p.S6095L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	18508	-			7022					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18284C>T		.	.	.	.	.	.	.	.	.	.	G	11.24	1.579677	0.28180	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46229	0.1382	L	0.49256	1.55	0.80722	D	1	B	0.22080	0.064	B	0.25140	0.058	T	0.41716	-0.9493	9	0.87932	D	0	.	14.7371	0.69424	0.0:0.0:0.821:0.179	.	7022	Q8WZ42	TITIN_HUMAN	L	6095	ENSP00000343764:S6095L	ENSP00000343764:S6095L	S	-	2	0	TTN	179295855	1.000000	0.71417	0.932000	0.37286	0.996000	0.88848	3.727000	0.54984	2.741000	0.93983	0.650000	0.86243	TCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		5	24	0	0	0	0.02938	0	5	24		
TTN	7273	broad.mit.edu	37	2	179605206	179605206	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179605206G>C	ENST00000591111.1	-	46	12027	c.11803C>G	c.(11803-11805)Ctt>Gtt	p.L3935V	TTN_ENST00000359218.5_Missense_Mutation_p.L4014V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L4081V|TTN_ENST00000589042.1_Missense_Mutation_p.L4252V|TTN_ENST00000460472.2_Missense_Mutation_p.L3889V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTTTGAAGAGTCACTCTT	0.463																																						uc010zfh.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12241-12243)CTT>GTT		titin isoform novex-2							123.0	113.0	116.0					2																	179605206		1950	4150	6100	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605206G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11803C>G	2.37:g.179605206G>C	ENSP00000465570:p.Leu3935Val					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L4014V|TTN_uc010zfj.1_Missense_Mutation_p.L3889V|TTN_uc002umz.1_Intron	p.L4081V	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12465	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12241C>G		.	.	.	.	.	.	.	.	.	.	G	8.224	0.803047	0.16397	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.58060	0.42;0.36;0.36	4.91	2.97	0.34412	.	.	.	.	.	T	0.29256	0.0728	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24119	-1.0169	9	0.87932	D	0	.	9.2621	0.37619	0.1533:0.1335:0.7133:0.0	.	3889;4014;4081	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3889;4081;4014;3889	ENSP00000434586:L3889V;ENSP00000340554:L4081V;ENSP00000352154:L4014V	ENSP00000340554:L4081V	L	-	1	0	TTN	179313451	0.956000	0.32656	0.336000	0.25522	0.941000	0.58515	1.728000	0.38105	1.077000	0.40990	0.655000	0.94253	CTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	37	0	0	0	0.004482	0	7	37		
BARD1	580	broad.mit.edu	37	2	215609878	215609878	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:215609878G>C	ENST00000260947.4	-	9	1950	c.1816C>G	c.(1816-1818)Cat>Gat	p.H606D	BARD1_ENST00000449967.2_Missense_Mutation_p.H462D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	606	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAACAACATGAGTTACTAAA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NaN																	0				lung(2)	2						c.(1816-1818)CAT>GAT		BRCA1 associated RING domain 1							70.0	65.0	66.0					2																	215609878		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215609878G>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1816C>G	2.37:g.215609878G>C	ENSP00000260947:p.His606Asp					BARD1_uc010zjm.1_Missense_Mutation_p.H462D	p.H606D	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	9	1951	-		Renal(323;0.0243)	606			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1816C>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762586	0.69763	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;T	0.70282	-0.47;-0.47;-0.47	5.43	5.43	0.79202	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	M	0.92880	3.355	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90835	0.4719	10	0.72032	D	0.01	-24.3546	19.2251	0.93815	0.0:0.0:1.0:0.0	.	462;606	E7EUI3;Q99728	.;BARD1_HUMAN	D	606;462;155	ENSP00000260947:H606D;ENSP00000406752:H462D;ENSP00000392245:H155D	ENSP00000260947:H606D	H	-	1	0	BARD1	215318123	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.746000	0.74866	2.531000	0.85337	0.650000	0.86243	CAT		0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1		NM_000465		11	36	0	0	0	0.020292	0	11	36		
TNS1	7145	broad.mit.edu	37	2	218683208	218683208	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:218683208G>C	ENST00000171887.4	-	24	3987	c.3535C>G	c.(3535-3537)Cag>Gag	p.Q1179E	TNS1_ENST00000419504.1_Missense_Mutation_p.Q1166E|TNS1_ENST00000430930.1_Missense_Mutation_p.Q1158E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1179					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCGCGCCTGAGGGCTCCCA	0.637																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(3535-3537)CAG>GAG		tensin							53.0	57.0	56.0					2																	218683208		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683208G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3535C>G	2.37:g.218683208G>C	ENSP00000171887:p.Gln1179Glu					TNS1_uc002vgr.2_Missense_Mutation_p.Q1166E|TNS1_uc002vgs.2_Missense_Mutation_p.Q1158E|TNS1_uc010zjv.1_Missense_Mutation_p.Q1158E	p.Q1179E	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3933	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1179					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3535C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	9.551	1.115936	0.20795	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.90788	-2.73;2.29;-2.72;-2.72	4.61	4.61	0.57282	.	0.859012	0.10330	N	0.687696	D	0.83280	0.5220	N	0.25647	0.755	0.80722	D	1	B;B;B	0.26809	0.16;0.16;0.121	B;B;B	0.21708	0.036;0.033;0.021	T	0.73579	-0.3938	10	0.09843	T	0.71	.	12.7148	0.57109	0.0:0.0:0.8356:0.1644	.	1179;1158;1166	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	E	1179;317;1166;1158	ENSP00000171887:Q1179E;ENSP00000394171:Q317E;ENSP00000408724:Q1166E;ENSP00000406016:Q1158E	ENSP00000171887:Q1179E	Q	-	1	0	TNS1	218391453	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	4.087000	0.57671	2.403000	0.81681	0.563000	0.77884	CAG		0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		11	79	0	0	0	0.016723	0	11	79		
PCSK2	5126	broad.mit.edu	37	20	17445975	17445975	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:17445975G>A	ENST00000262545.2	+	11	1522	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	PCSK2_ENST00000536609.1_Missense_Mutation_p.G368S|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.G384S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	403	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATCCAGCCTGGGTCTGACCTG	0.562																																						uc002wpm.2		NaN																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1207-1209)GGT>AGT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						63.0	49.0	54.0					20																	17445975		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17445975G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1207G>A	20.37:g.17445975G>A	ENSP00000262545:p.Gly403Ser					PCSK2_uc002wpl.2_Missense_Mutation_p.G384S|PCSK2_uc010zrm.1_Missense_Mutation_p.G368S|PCSK2_uc002wpn.2_Missense_Mutation_p.G57S	p.G403S	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1527	+			403			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1207G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947049	0.53186	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.86627	-2.15;-2.15;-2.15	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.472462	0.26571	N	0.023632	T	0.73265	0.3565	N	0.03084	-0.415	0.37066	D	0.898287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.007;0.004;0.004	T	0.70332	-0.4901	10	0.11485	T	0.65	-0.3713	18.2039	0.89848	0.0:0.0:1.0:0.0	.	368;384;403	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	S	384;403;368	ENSP00000367131:G384S;ENSP00000262545:G403S;ENSP00000437458:G368S	ENSP00000262545:G403S	G	+	1	0	PCSK2	17393975	1.000000	0.71417	0.862000	0.33874	0.975000	0.68041	4.787000	0.62432	2.643000	0.89663	0.555000	0.69702	GGT		0.562	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2		NM_002594		21	42	0	0	0	0.016522	0	21	42		
CST1	1469	broad.mit.edu	37	20	23731323	23731323	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:23731323C>G	ENST00000304749.2	-	1	251	c.181G>C	c.(181-183)Gat>Cat	p.D61H	CST1_ENST00000398402.1_Missense_Mutation_p.D61H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGTAGTCATCTTTGGTGGCC	0.567																																						uc002wtp.2		NaN																	0				ovary(1)	1						c.(181-183)GAT>CAT		cystatin SN precursor							163.0	133.0	143.0					20																	23731323		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731323C>G	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.181G>C	20.37:g.23731323C>G	ENSP00000305731:p.Asp61His						p.D61H	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	252	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		61					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.181G>C	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688384	0.29962	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.29917	1.55;1.55	1.61	1.61	0.23674	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.91561	3.22	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.44498	-0.9324	10	0.87932	D	0	.	6.5692	0.22529	0.0:1.0:0.0:0.0	.	61	P01037	CYTN_HUMAN	H	61	ENSP00000305731:D61H;ENSP00000381439:D61H	ENSP00000305731:D61H	D	-	1	0	CST1	23679323	0.008000	0.16893	0.002000	0.10522	0.018000	0.09664	0.516000	0.22817	0.861000	0.35504	0.184000	0.17185	GAT		0.567	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2		NM_001898		35	65	0	0	0	0.033182	0	35	65		
PTPRT	11122	broad.mit.edu	37	20	40748574	40748574	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:40748574C>T	ENST00000373187.1	-	20	2884		c.e20+1		PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373198.4_Splice_Site			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						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)				AGGGCACTTACCTTGAGTCGC	0.512																																						uc002xkg.2		NaN																	0				skin(8)|ovary(7)|lung(5)	20						c.e20+1		protein tyrosine phosphatase, receptor type, T							135.0	134.0	134.0					20																	40748574		1913	4133	6046	SO:0001630	splice_region_variant	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.chr20:40748574C>T	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.2884+1G>A	20.37:g.40748574C>T						PTPRT_uc010ggj.2_Splice_Site_p.G981_splice|PTPRT_uc010ggi.2_Splice_Site_p.G165_splice	p.G962_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN			20	3068	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)						A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Splice_Site	SNP	ENST00000373187.1	37	c.2884_splice	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438531	0.96168	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6134	0.95619	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRT	40181988	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.760000	0.85248	2.631000	0.89168	0.655000	0.94253	.		0.512	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			Intron	49	104	0	0	0	0.01441	0	49	104		
SERINC3	10955	broad.mit.edu	37	20	43129871	43129871	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:43129871C>T	ENST00000342374.4	-	9	1283	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SERINC3_ENST00000541235.1_Missense_Mutation_p.D321N|SERINC3_ENST00000255175.1_Missense_Mutation_p.D376N	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	376					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTAGTTGTATCACCAAGGATG	0.507																																						uc002xme.2		NaN																	0				skin(3)	3						c.(1126-1128)GAT>AAT		tumor differentially expressed protein 1							168.0	137.0	147.0					20																	43129871		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129871C>T	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1126G>A	20.37:g.43129871C>T	ENSP00000340243:p.Asp376Asn					SERINC3_uc002xmf.1_Missense_Mutation_p.D376N|SERINC3_uc010ggs.1_Missense_Mutation_p.D369N|SERINC3_uc010zwp.1_Missense_Mutation_p.D321N	p.D376N	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1260	-		Myeloproliferative disorder(115;0.0122)	376			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1126G>A	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654173	0.47362	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.4	5.4	0.78164	.	0.246812	0.46758	D	0.000279	T	0.35278	0.0926	M	0.62723	1.935	0.47905	D	0.999543	B;D	0.59767	0.041;0.986	B;D	0.65573	0.038;0.936	T	0.00571	-1.1665	10	0.41790	T	0.15	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	376;376	Q53GK8;Q13530	.;SERC3_HUMAN	N	115;376;376;343;321	ENSP00000414197:D115N;ENSP00000255175:D376N;ENSP00000340243:D376N;ENSP00000440966:D321N	ENSP00000255175:D376N	D	-	1	0	SERINC3	42563285	1.000000	0.71417	0.349000	0.25694	0.338000	0.28826	5.783000	0.68982	2.814000	0.96858	0.563000	0.77884	GAT		0.507	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		25	158	0	0	0	0.017118	0	25	158		
ACOT8	10005	broad.mit.edu	37	20	44477114	44477114	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:44477114C>G	ENST00000217455.4	-	3	553	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	155					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				ATGAGGGTCTCACAGTCAAGC	0.537																																						uc002xqa.1		NaN																	0				skin(1)	1						c.(463-465)GAG>CAG		peroxisomal acyl-CoA thioesterase 1 isoform a							208.0	206.0	207.0					20																	44477114		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44477114C>G	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.463G>C	20.37:g.44477114C>G	ENSP00000217455:p.Glu155Gln					ACOT8_uc010zxe.1_Missense_Mutation_p.E155Q|ACOT8_uc002xqc.1_Missense_Mutation_p.E102Q|ACOT8_uc010zxf.1_Intron	p.E155Q	NM_005469	NP_005460	O14734	ACOT8_HUMAN			3	544	-		Myeloproliferative disorder(115;0.0122)	155					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.463G>C	CCDS13378.1	.	.	.	.	.	.	.	.	.	.	C	5.533	0.283320	0.10458	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.38	1.23	0.21249	.	0.148667	0.64402	N	0.000013	T	0.46054	0.1373	L	0.46885	1.475	0.52099	D	0.999946	P;P;B	0.44380	0.752;0.834;0.295	B;P;B	0.45310	0.393;0.476;0.147	T	0.25363	-1.0134	9	0.18710	T	0.47	.	11.4135	0.49939	0.0:0.5828:0.3531:0.0641	.	155;102;155	B4DLF4;A8K8X9;O14734	.;.;ACOT8_HUMAN	Q	155	.	ENSP00000217455:E155Q	E	-	1	0	ACOT8	43910521	0.649000	0.27322	0.001000	0.08648	0.003000	0.03518	1.370000	0.34238	0.103000	0.17682	-0.951000	0.02657	GAG		0.537	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2		NM_183386		48	312	0	0	0	0.01441	0	48	312		
RAE1	8480	broad.mit.edu	37	20	55948726	55948726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:55948726G>C	ENST00000395841.2	+	10	1177	c.757G>C	c.(757-759)Gat>Cat	p.D253H	RAE1_ENST00000395840.2_Missense_Mutation_p.D253H|RAE1_ENST00000371242.2_Missense_Mutation_p.D253H|RAE1_ENST00000527947.1_Missense_Mutation_p.D253H	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	253					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CAGCGCCAAAGATAACTTCAC	0.418																																						uc002xyg.2		NaN																	0					0						c.(757-759)GAT>CAT		RAE1 (RNA export 1, S.pombe) homolog							206.0	199.0	201.0					20																	55948726		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948726G>C	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.757G>C	20.37:g.55948726G>C	ENSP00000379182:p.Asp253His					RAE1_uc010gis.1_Missense_Mutation_p.D206H|RAE1_uc010git.1_Missense_Mutation_p.D253H|RAE1_uc002xyh.2_Missense_Mutation_p.D253H|RAE1_uc002xyi.2_Missense_Mutation_p.D253H	p.D253H	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		10	1098	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		253					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.757G>C	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762151	0.69763	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.942;0.942	T	0.83166	-0.0096	10	0.48119	T	0.1	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	253;253;253	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	H	253	ENSP00000379182:D253H;ENSP00000360286:D253H;ENSP00000432609:D253H;ENSP00000379181:D253H	ENSP00000360286:D253H	D	+	1	0	RAE1	55382133	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	7.477000	0.81069	2.716000	0.92895	0.655000	0.94253	GAT		0.418	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2				65	151	0	0	0	0.01441	0	65	151		
DONSON	29980	broad.mit.edu	37	21	34951767	34951767	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:34951767C>T	ENST00000303071.5	-	9	1518	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Silent_p.L470L|DONSON_ENST00000432378.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	484					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GCAGCATGGTCAGTGAATGCA	0.443																																						uc002ysk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1450-1452)CTG>CTA		downstream neighbor of SON							159.0	143.0	148.0					21																	34951767		2203	4300	6503	SO:0001819	synonymous_variant	29980				multicellular organismal development	nucleus		g.chr21:34951767C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1452G>A	21.37:g.34951767C>T						DONSON_uc002ysi.1_Silent_p.L244L|DONSON_uc002ysj.2_Silent_p.L117L|DONSON_uc002ysl.2_Silent_p.L117L|DONSON_uc010gme.2_Silent_p.L457L|DONSON_uc002ysm.2_Silent_p.L484L	p.L484L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			9	1519	-			484					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Silent	SNP	ENST00000303071.5	37	c.1452G>A	CCDS13632.1																																																																																				0.443	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1		NM_017613		23	134	0	0	0	0.030593	0	23	134		
PRDM15	63977	broad.mit.edu	37	21	43222983	43222983	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43222983C>G	ENST00000269844.3	-	30	4040	c.3930G>C	c.(3928-3930)gcG>gcC	p.A1310A	PRDM15_ENST00000398548.1_Silent_p.A981A|PRDM15_ENST00000447207.2_Silent_p.A944A|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Silent_p.A1001A|PRDM15_ENST00000538201.1_Silent_p.A964A	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A1310A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGGAGCACCCGCCTCCTCTT	0.577																																						uc002yzq.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(3928-3930)GCG>GCC		PR domain containing 15 isoform 1							169.0	184.0	179.0					21																	43222983		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43222983C>G	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3930G>C	21.37:g.43222983C>G						PRDM15_uc002yzo.2_Silent_p.A981A|PRDM15_uc002yzp.2_Silent_p.A1001A|PRDM15_uc002yzr.1_Silent_p.A1001A	p.A1310A	NM_022115	NP_071398	P57071	PRD15_HUMAN			30	4041	-			1310					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.3930G>C	CCDS13676.1																																																																																				0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115		47	294	0	0	0	0.01441	0	47	294		
UMODL1	89766	broad.mit.edu	37	21	43504216	43504216	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43504216C>T	ENST00000408910.2	+	3	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F	UMODL1_ENST00000400427.1_Silent_p.F42F|UMODL1_ENST00000400424.2_Silent_p.F42F|UMODL1_ENST00000408989.2_Silent_p.F114F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	114	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCGGGCAGTTCACGTCAAGAC	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NaN																	0				ovary(2)|skin(1)	3						c.(340-342)TTC>TTT		uromodulin-like 1 isoform 1 precursor							138.0	151.0	147.0					21																	43504216		1934	4125	6059	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43504216C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.342C>T	21.37:g.43504216C>T						UMODL1_uc002zad.1_Silent_p.F42F|UMODL1_uc002zae.1_Silent_p.F42F|UMODL1_uc002zag.1_Silent_p.F114F|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	p.F114F	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			3	342	+			114			Extracellular (Potential).|WAP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.342C>T	CCDS42936.1																																																																																				0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2				75	200	0	0	0	0.01441	0	75	200		
PKNOX1	5316	broad.mit.edu	37	21	44427655	44427655	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:44427655G>C	ENST00000291547.5	+	3	317	c.106G>C	c.(106-108)Gat>Cat	p.D36H	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	36					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTGAACCCGATGCAGAAGG	0.493																																						uc002zcq.1		NaN																	0				large_intestine(2)	2						c.(106-108)GAT>CAT		PBX/knotted 1 homeobox 1							124.0	120.0	121.0					21																	44427655		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44427655G>C		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.106G>C	21.37:g.44427655G>C	ENSP00000291547:p.Asp36His					PKNOX1_uc002zcp.1_Missense_Mutation_p.D36H|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.2_Missense_Mutation_p.D36H	p.D36H	NM_004571	NP_004562	P55347	PKNX1_HUMAN			3	294	+			36					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.106G>C	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075413	0.76415	.	.	ENSG00000160199	ENST00000291547	T	0.32272	1.46	4.84	4.84	0.62591	.	0.188080	0.40144	N	0.001180	T	0.40094	0.1103	N	0.22421	0.69	0.80722	D	1	D;P;D	0.76494	0.999;0.898;0.996	D;B;D	0.68483	0.957;0.3;0.958	T	0.14727	-1.0462	10	0.31617	T	0.26	0.0278	16.5059	0.84272	0.0:0.0:1.0:0.0	.	36;36;36	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	H	36	ENSP00000291547:D36H	ENSP00000291547:D36H	D	+	1	0	PKNOX1	43300724	1.000000	0.71417	0.939000	0.37840	0.733000	0.41908	7.536000	0.82023	2.416000	0.81992	0.655000	0.94253	GAT		0.493	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3				35	190	0	0	0	0.025465	0	35	190		
ENTHD1	150350	broad.mit.edu	37	22	40139982	40139982	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40139982G>C	ENST00000325157.6	-	7	1776	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	509										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGACTACTAGAAATGTGACT	0.433																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1525-1527)TCT>TGT		ENTH domain containing 1							47.0	49.0	48.0					22																	40139982		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139982G>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1526C>G	22.37:g.40139982G>C	ENSP00000317431:p.Ser509Cys						p.S509C	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1777	-	Melanoma(58;0.0749)		509					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1526C>G	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818677	0.16607	.	.	ENSG00000176177	ENST00000325157	T	0.33216	1.42	5.75	3.61	0.41365	.	0.763365	0.11937	N	0.515167	T	0.30166	0.0756	L	0.60455	1.87	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.23013	-1.0200	10	0.52906	T	0.07	-1.2256	8.4644	0.32947	0.0828:0.1535:0.7636:0.0	.	509	Q8IYW4	ENTD1_HUMAN	C	509	ENSP00000317431:S509C	ENSP00000317431:S509C	S	-	2	0	ENTHD1	38469928	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.770000	0.26618	0.733000	0.32492	-0.182000	0.12963	TCT		0.433	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		9	35	0	0	0	0.004482	0	9	35		
ENTHD1	150350	broad.mit.edu	37	22	40140187	40140187	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140187G>A	ENST00000325157.6	-	7	1571	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	441										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGTCCGGCCAGAATTGGTGAT	0.458																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1321-1323)CTG>TTG		ENTH domain containing 1							72.0	68.0	70.0					22																	40140187		2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40140187G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1321C>T	22.37:g.40140187G>A							p.L441L	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1572	-	Melanoma(58;0.0749)		441					B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.1321C>T	CCDS13998.1																																																																																				0.458	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		12	35	0	0	0	0.013537	0	12	35		
ENTHD1	150350	broad.mit.edu	37	22	40140202	40140202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140202G>C	ENST00000325157.6	-	7	1556	c.1306C>G	c.(1306-1308)Ctc>Gtc	p.L436V		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	436										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGTGATAAGAGATGAGCTGAC	0.438																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1306-1308)CTC>GTC		ENTH domain containing 1							72.0	68.0	69.0					22																	40140202		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40140202G>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1306C>G	22.37:g.40140202G>C	ENSP00000317431:p.Leu436Val						p.L436V	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1557	-	Melanoma(58;0.0749)		436					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1306C>G	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	0.170	-1.072375	0.01918	.	.	ENSG00000176177	ENST00000325157	T	0.42131	0.98	5.64	-0.246	0.13022	.	1.727610	0.03193	N	0.173631	T	0.26521	0.0648	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.10359	-1.0633	10	0.29301	T	0.29	1.4117	1.9041	0.03273	0.1675:0.277:0.3971:0.1584	.	436	Q8IYW4	ENTD1_HUMAN	V	436	ENSP00000317431:L436V	ENSP00000317431:L436V	L	-	1	0	ENTHD1	38470148	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.199000	0.09491	0.014000	0.14944	0.650000	0.86243	CTC		0.438	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		9	33	0	0	0	0.006214	0	9	33		
GRAMD4	23151	broad.mit.edu	37	22	47073091	47073091	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:47073091C>T	ENST00000406902.1	+	19	1893	c.1680C>T	c.(1678-1680)acC>acT	p.T560T	GRAMD4_ENST00000408031.1_Silent_p.T83T|GRAMD4_ENST00000361034.3_Silent_p.T560T			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	560					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTTCGAGACCATTCTCAGCC	0.562																																						uc003bhx.2		NaN																	0				ovary(1)	1						c.(1678-1680)ACC>ACT		death-inducing-protein							123.0	110.0	115.0					22																	47073091		2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47073091C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1680C>T	22.37:g.47073091C>T						GRAMD4_uc010had.2_Silent_p.T476T|GRAMD4_uc003bhy.2_Silent_p.T83T	p.T560T	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	18	1719	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	560					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.1680C>T	CCDS33672.1																																																																																				0.562	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1		NM_015124		17	95	0	0	0	0.014323	0	17	95		
HDAC10	83933	broad.mit.edu	37	22	50684743	50684743	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:50684743G>C	ENST00000216271.5	-	17	1986	c.1634C>G	c.(1633-1635)tCc>tGc	p.S545C	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.S525C|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.S495C	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	545					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTGGCGTGGAGACATGGAA	0.582																																						uc003bkg.2		NaN																	0					0						c.(1633-1635)TCC>TGC		histone deacetylase 10 isoform 1							144.0	120.0	128.0					22																	50684743		2203	4300	6503	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50684743G>C	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1634C>G	22.37:g.50684743G>C	ENSP00000216271:p.Ser545Cys					TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.S271C|HDAC10_uc003bkf.2_Missense_Mutation_p.S271C|HDAC10_uc010hav.2_Missense_Mutation_p.S525C|HDAC10_uc003bkh.2_Missense_Mutation_p.S338C|HDAC10_uc003bki.2_Missense_Mutation_p.S495C|HDAC10_uc003bkj.2_RNA	p.S545C	NM_032019	NP_114408	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	2007	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	545					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1634C>G	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	3.972	-0.008113	0.07773	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.30714	1.52;1.52;1.52	4.64	2.44	0.29823	Histone deacetylase domain (1);	0.731043	0.12203	N	0.490034	T	0.33789	0.0875	M	0.72479	2.2	0.09310	N	0.999994	B;B;B;B	0.14012	0.001;0.0;0.009;0.001	B;B;B;B	0.13407	0.004;0.001;0.009;0.004	T	0.28396	-1.0045	10	0.49607	T	0.09	-12.1118	11.041	0.47831	0.0:0.4065:0.5935:0.0	.	525;495;545;545	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	C	545;495;525	ENSP00000216271:S545C;ENSP00000397542:S495C;ENSP00000343540:S525C	ENSP00000216271:S545C	S	-	2	0	HDAC10	49026870	0.561000	0.26578	0.014000	0.15608	0.016000	0.09150	0.936000	0.28938	0.619000	0.30197	0.561000	0.74099	TCC		0.582	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4		NM_032019		16	130	0	0	0	0.010504	0	16	130		
SSUH2	51066	broad.mit.edu	37	3	8667307	8667307	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:8667307G>T	ENST00000317371.4	-	17	1953	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SSUH2_ENST00000544814.1_Missense_Mutation_p.S265Y|SSUH2_ENST00000341795.3_Missense_Mutation_p.S243Y|SSUH2_ENST00000415132.1_Missense_Mutation_p.S243Y			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	243						cytoplasm (GO:0005737)											CCGGTGCTCAGACACAAACTC	0.498																																						uc003bqu.2		NaN																	0				skin(1)	1						c.(727-729)TCT>TAT		hypothetical protein LOC51066							94.0	87.0	90.0					3																	8667307		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8667307G>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.728C>A	3.37:g.8667307G>T	ENSP00000324551:p.Ser243Tyr					C3orf32_uc003bqz.2_Missense_Mutation_p.S243Y|C3orf32_uc003bqt.2_Missense_Mutation_p.S192Y|C3orf32_uc011atg.1_Missense_Mutation_p.S265Y|C3orf32_uc003bqv.2_Missense_Mutation_p.S192Y|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.S243Y	p.S243Y	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN			10	974	-			243					A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.728C>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809921	0.50421	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.49432	0.81;0.81;0.78;0.83	4.71	4.71	0.59529	.	0.372112	0.28527	N	0.015039	T	0.63295	0.2499	M	0.66939	2.045	0.36599	D	0.874531	D;D	0.63880	0.993;0.993	D;P	0.63113	0.911;0.891	T	0.71938	-0.4441	10	0.59425	D	0.04	-25.4746	13.4981	0.61438	0.0:0.0:1.0:0.0	.	265;243	F5H2S5;Q9Y2M2	.;CC032_HUMAN	Y	243;243;243;265	ENSP00000339150:S243Y;ENSP00000324551:S243Y;ENSP00000410757:S243Y;ENSP00000439378:S265Y	ENSP00000324551:S243Y	S	-	2	0	C3orf32	8642307	1.000000	0.71417	0.776000	0.31678	0.453000	0.32348	5.779000	0.68948	2.321000	0.78463	0.491000	0.48974	TCT		0.498	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1		NM_015931		14	92	1	0	1.99824e-07	0.0333	2.13805e-07	14	92		
FANCD2	2177	broad.mit.edu	37	3	10094121	10094121	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:10094121C>G	ENST00000419585.1	+	18	1757	c.1596C>G	c.(1594-1596)ctC>ctG	p.L532L	FANCD2_ENST00000383806.1_Silent_p.L532L|FANCD2_ENST00000287647.3_Silent_p.L532L|FANCD2_ENST00000383807.1_Silent_p.L532L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	532					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACGAAAACTCTTCTATGTTC	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1594-1596)CTC>CTG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							78.0	75.0	76.0					3																	10094121		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10094121C>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1596C>G	3.37:g.10094121C>G						FANCD2_uc003bux.1_Silent_p.L532L|FANCD2_uc003buy.1_Silent_p.L532L|FANCD2_uc010hcw.1_RNA	p.L532L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	18	1674	+			532					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.1596C>G	CCDS33696.1																																																																																				0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				13	120	0	0	0	0.0333	0	13	120		
NGLY1	55768	broad.mit.edu	37	3	25775404	25775404	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:25775404C>T	ENST00000280700.5	-	8	1379	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.E407K|NGLY1_ENST00000417874.2_Missense_Mutation_p.E365K|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.E389K	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	407					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AGTAATGCTTCTTTAACCTTA	0.343																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(1219-1221)GAA>AAA		N-glycanase 1 isoform 1							173.0	162.0	166.0					3																	25775404		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25775404C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1219G>A	3.37:g.25775404C>T	ENSP00000280700:p.Glu407Lys					NGLY1_uc010hfg.2_Missense_Mutation_p.E389K|NGLY1_uc003cdm.2_Missense_Mutation_p.E407K|NGLY1_uc011awo.1_Missense_Mutation_p.E365K|NGLY1_uc003cdk.2_RNA	p.E407K	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			8	1327	-			407					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1219G>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676226	0.96764	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.949;0.991;0.998;1.0	T	0.79836	-0.1635	10	0.87932	D	0	-22.3445	20.3627	0.98863	0.0:1.0:0.0:0.0	.	365;389;407;407	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	K	389;407;407;386;365	ENSP00000387430:E389K;ENSP00000280700:E407K;ENSP00000379886:E407K;ENSP00000307980:E386K;ENSP00000389888:E365K	ENSP00000280700:E407K	E	-	1	0	NGLY1	25750408	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GAA		0.343	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2				11	112	0	0	0	0.016723	0	11	112		
MLH1	4292	broad.mit.edu	37	3	37056000	37056000	+	Nonsense_Mutation	SNP	C	C	G	rs63750198		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:37056000C>G	ENST00000231790.2	+	9	971	c.755C>G	c.(754-756)tCa>tGa	p.S252*	MLH1_ENST00000536378.1_Nonsense_Mutation_p.S11*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.S11*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.S11*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.S11*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.S154*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	252			Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.S252*(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAAACTACTCAGTGAAGAAG	0.378		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		3	Substitution - Nonsense(2)|Whole gene deletion(1)	p.S252*(2)|p.0?(1)	large_intestine(2)|ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77	GRCh37	CM941060	MLH1	M	rs121912956	c.(754-756)TCA>TGA	MMR	MutL protein homolog 1							68.0	64.0	66.0					3																	37056000		2203	4300	6503	SO:0001587	stop_gained	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37056000C>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.755C>G	3.37:g.37056000C>G	ENSP00000231790:p.Ser252*					MLH1_uc011aye.1_Nonsense_Mutation_p.S11*|MLH1_uc011ayb.1_Nonsense_Mutation_p.S11*|MLH1_uc010hge.2_Nonsense_Mutation_p.S252*|MLH1_uc003cgn.3_Nonsense_Mutation_p.S11*|MLH1_uc011ayc.1_Nonsense_Mutation_p.S154*|MLH1_uc011ayd.1_Nonsense_Mutation_p.S11*|MLH1_uc003cgo.2_Nonsense_Mutation_p.S11*|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR	p.S252*	NM_000249	NP_000240	P40692	MLH1_HUMAN			9	815	+			252		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	c.755C>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.153754|9.153754	0.99084|0.99084	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378	.|.	.|.	.|.	5.69|5.69	4.82|4.82	0.62117|0.62117	.|.	.|0.123340	.|0.56097	.|D	.|0.000025	T|.	0.69967|.	0.3170|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78342|.	-0.2241|.	3|.	.|0.62326	.|D	.|0.03	-10.6287|-10.6287	14.5157|14.5157	0.67818|0.67818	0.0:0.93:0.0:0.07|0.0:0.93:0.0:0.07	.|.	.|.	.|.	.|.	E|X	244|252;218;218;116;11;11;11;154;11;11	.|.	.|ENSP00000231790:S252X	Q|S	+|+	1|2	0|0	MLH1|MLH1	37031004|37031004	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.963000|0.963000	0.63663|0.63663	5.618000|5.618000	0.67722|0.67722	1.426000|1.426000	0.47256|0.47256	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.378	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2		NM_000249		6	70	0	0	0	0.00308	0	6	70		
ANO10	55129	broad.mit.edu	37	3	43640099	43640099	+	Missense_Mutation	SNP	C	C	G	rs571983239	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:43640099C>G	ENST00000292246.3	-	4	567	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	ANO10_ENST00000396091.3_Missense_Mutation_p.E67Q|ANO10_ENST00000350459.4_Missense_Mutation_p.E133Q|ANO10_ENST00000414522.2_Missense_Mutation_p.E133Q|ANO10_ENST00000451430.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	133					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.E133Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CTAAGATTTTCAAGTTCATGT	0.313																																						uc003cmv.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(397-399)GAA>CAA		transmembrane protein 16K							124.0	119.0	121.0					3																	43640099		2203	4295	6498	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43640099C>G	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.397G>C	3.37:g.43640099C>G	ENSP00000292246:p.Glu133Gln					ANO10_uc011azs.1_Missense_Mutation_p.E133Q|ANO10_uc003cmw.2_Missense_Mutation_p.E67Q|ANO10_uc010hil.2_Missense_Mutation_p.E133Q|ANO10_uc011azt.1_Intron	p.E133Q	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			4	568	-			133			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.397G>C	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030584	0.93575	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T	0.71934	0.19;-0.61;0.2;0.22;2.0;1.93	5.87	5.87	0.94306	.	0.096786	0.64402	D	0.000001	T	0.79046	0.4380	L	0.43152	1.355	0.80722	D	1	D;D;D;B	0.76494	0.986;0.999;0.977;0.248	P;D;P;B	0.65443	0.772;0.935;0.854;0.206	T	0.73300	-0.4026	10	0.25751	T	0.34	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	133;133;67;133	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	Q	133;133;67;133;133;133;133;133;133	ENSP00000292246:E133Q;ENSP00000327767:E133Q;ENSP00000379398:E67Q;ENSP00000396990:E133Q;ENSP00000406432:E133Q;ENSP00000402010:E133Q	ENSP00000292246:E133Q	E	-	1	0	ANO10	43615103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.861000	0.75478	2.780000	0.95670	0.655000	0.94253	GAA		0.313	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2		NM_018075		3	42	0	0	0	0.004672	0	3	42		
DALRD3	55152	broad.mit.edu	37	3	49055271	49055271	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:49055271C>T	ENST00000341949.4	-	3	499	c.493G>A	c.(493-495)Gat>Aat	p.D165N	DALRD3_ENST00000313778.5_5'UTR|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.D165N|MIR191_ENST00000384873.1_RNA|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000326912.4_5'Flank|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000395462.4_5'UTR	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	165					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGTGCGGATCCCGCACAGCT	0.672																																						uc003cvk.1		NaN																	0					0						c.(493-495)GAT>AAT		DALR anticodon binding domain containing 3							22.0	20.0	21.0					3																	49055271		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49055271C>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.493G>A	3.37:g.49055271C>T	ENSP00000344989:p.Asp165Asn					DALRD3_uc003cvl.1_Missense_Mutation_p.D165N|DALRD3_uc003cvm.1_5'UTR|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.D165N|NDUFAF3_uc003cvn.2_5'Flank	p.D165N	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	513	-			165					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.493G>A	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.441792	0.83993	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000420952	T;T;T	0.56444	0.46;0.56;0.52	4.91	4.91	0.64330	.	0.186799	0.45606	D	0.000356	T	0.66005	0.2746	L	0.50333	1.59	0.47994	D	0.999568	D;D;P	0.89917	1.0;1.0;0.825	D;D;B	0.76575	0.988;0.988;0.207	T	0.65569	-0.6136	10	0.44086	T	0.13	-26.2508	14.5933	0.68386	0.1463:0.8537:0.0:0.0	.	165;165;165	B7Z727;Q5D0E6-2;Q5D0E6	.;.;DALD3_HUMAN	N	165;165;130	ENSP00000410623:D165N;ENSP00000344989:D165N;ENSP00000397385:D130N	ENSP00000344989:D165N	D	-	1	0	DALRD3	49030275	0.833000	0.29383	0.988000	0.46212	0.865000	0.49528	1.787000	0.38704	2.266000	0.75297	0.651000	0.88453	GAT		0.672	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1		NM_018114		5	20	0	0	0	0.021553	0	5	20		
GNAT1	2779	broad.mit.edu	37	3	50231304	50231304	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:50231304C>T	ENST00000433068.1	+	5	624	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	GNAT1_ENST00000232461.3_Missense_Mutation_p.L190F|GNAT1_ENST00000481246.1_3'UTR	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTCAAGGATCTCAACTTCCG	0.657																																						uc003cym.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(568-570)CTC>TTC		rod-type transducin alpha subunit							81.0	74.0	76.0					3																	50231304		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231304C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.568C>T	3.37:g.50231304C>T	ENSP00000387555:p.Leu190Phe					GNAT1_uc003cyl.2_Missense_Mutation_p.L190F	p.L190F	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	5	684	+			190					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.568C>T	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275701	0.95459	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	T;T	0.70869	-0.52;-0.52	5.7	5.7	0.88788	.	0.055909	0.64402	N	0.000001	D	0.82351	0.5018	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.83103	-0.0127	10	0.72032	D	0.01	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	190	P11488	GNAT1_HUMAN	F	190	ENSP00000232461:L190F;ENSP00000387555:L190F	ENSP00000232461:L190F	L	+	1	0	GNAT1	50206308	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.941000	0.70195	2.711000	0.92665	0.561000	0.74099	CTC		0.657	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1		NM_000172		30	72	0	0	0	0.025465	0	30	72		
ALAS1	211	broad.mit.edu	37	3	52233298	52233298	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:52233298T>G	ENST00000394965.2	+	3	401	c.41T>G	c.(40-42)gTc>gGc	p.V14G	ALAS1_ENST00000310271.2_Missense_Mutation_p.V14G|ALAS1_ENST00000469224.1_Missense_Mutation_p.V14G|ALAS1_ENST00000484952.1_Missense_Mutation_p.V14G	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	14					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TTATCCCGAGTCCCCCAGGCC	0.527																																						uc003dcy.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(40-42)GTC>GGC		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						67.0	65.0	66.0					3																	52233298		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52233298T>G	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.41T>G	3.37:g.52233298T>G	ENSP00000378416:p.Val14Gly					ALAS1_uc003dcx.1_Missense_Mutation_p.V14G|ALAS1_uc003dcz.1_Missense_Mutation_p.V14G|ALAS1_uc011bec.1_Missense_Mutation_p.V31G	p.V14G	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	3	378	+			14						Missense_Mutation	SNP	ENST00000394965.2	37	c.41T>G	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857293	0.51376	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72	5.04	5.04	0.67666	5-aminolevulinate synthase presequence (1);	0.058199	0.64402	D	0.000002	D	0.95818	0.8639	L	0.52573	1.65	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.20384	0.029;0.029	D	0.93873	0.7164	10	0.33940	T	0.23	-24.1604	14.7931	0.69857	0.0:0.0:0.0:1.0	.	31;14	B4DVA0;P13196	.;HEM1_HUMAN	G	14	ENSP00000417719:V14G;ENSP00000378416:V14G;ENSP00000309259:V14G;ENSP00000418779:V14G	ENSP00000309259:V14G	V	+	2	0	ALAS1	52208338	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	7.676000	0.84012	1.894000	0.54839	0.533000	0.62120	GTC		0.527	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1				14	73	0	0	0	0.008871	0	14	73		
ADAMTS9	56999	broad.mit.edu	37	3	64617494	64617494	+	Silent	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:64617494T>C	ENST00000498707.1	-	15	2625	c.2283A>G	c.(2281-2283)acA>acG	p.T761T	ADAMTS9_ENST00000295903.4_Silent_p.T733T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	761	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATAATGTACTGTATTAAATG	0.358																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(2281-2283)ACA>ACG		ADAM metallopeptidase with thrombospondin type 1							98.0	98.0	98.0					3																	64617494		2202	4300	6502	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64617494T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2283A>G	3.37:g.64617494T>C						ADAMTS9_uc011bfo.1_Silent_p.T733T|ADAMTS9_uc003dmh.1_Silent_p.T590T|ADAMTS9_uc003dmk.1_Silent_p.T761T	p.T761T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	15	2315	-		Lung NSC(201;0.00682)	761			Spacer.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.2283A>G	CCDS2903.1																																																																																				0.358	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				18	86	0	0	0	0.010504	0	18	86		
CBLB	868	broad.mit.edu	37	3	105377939	105377939	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:105377939C>G	ENST00000264122.4	-	19	3145	c.2824G>C	c.(2824-2826)Gag>Cag	p.E942Q	CBLB_ENST00000394027.3_Missense_Mutation_p.E920Q|CBLB_ENST00000407712.1_Missense_Mutation_p.E157Q	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	942	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCATAACCCTCTCCCATGAGT	0.512			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2824-2826)GAG>CAG		Cas-Br-M (murine) ecotropic retroviral							123.0	121.0	121.0					3																	105377939		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377939C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2824G>C	3.37:g.105377939C>G	ENSP00000264122:p.Glu942Gln					CBLB_uc003dwa.2_Missense_Mutation_p.E157Q|CBLB_uc011bhi.1_Missense_Mutation_p.E920Q	p.E942Q	NM_170662	NP_733762	Q13191	CBLB_HUMAN			19	3146	-			942			UBA.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2824G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086937	0.55861	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.65	4.78	0.61160	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);	0.146250	0.64402	D	0.000010	T	0.23492	0.0568	N	0.02916	-0.46	0.80722	D	1	P;D;D	0.76494	0.643;0.999;0.999	B;D;D	0.83275	0.396;0.996;0.996	T	0.47433	-0.9118	10	0.87932	D	0	-8.5899	14.3239	0.66505	0.0:0.9288:0.0:0.0712	.	920;942;920	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	Q	281;942;157;920	ENSP00000377598:E281Q;ENSP00000264122:E942Q;ENSP00000384170:E157Q;ENSP00000377595:E920Q	ENSP00000264122:E942Q	E	-	1	0	CBLB	106860629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.754000	0.74909	1.370000	0.46153	0.655000	0.94253	GAG		0.512	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		13	122	0	0	0	0.028581	0	13	122		
TIMMDC1	51300	broad.mit.edu	37	3	119222468	119222468	+	Splice_Site	SNP	G	G	A	rs369103124		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:119222468G>A	ENST00000494664.1	+	3	651		c.e3+1		TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTATATTCAAGTAAGTTCACT	0.418																																						uc003ecn.2		NaN																	0					0						c.e3+1		hypothetical protein LOC51300							74.0	72.0	73.0					3																	119222468		2203	4300	6503	SO:0001630	splice_region_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119222468G>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.449+1G>A	3.37:g.119222468G>A						C3orf1_uc003eco.2_Splice_Site|C3orf1_uc003ecp.2_Splice_Site	p.N150_splice	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	3	662	+								D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Splice_Site	SNP	ENST00000494664.1	37	c.449_splice	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628282	0.67015	.	.	ENSG00000113845	ENST00000494664	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0925	0.72207	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIMMDC1	120705158	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.412000	0.73303	2.640000	0.89533	0.462000	0.41574	.		0.418	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3		NM_016589	Intron	7	11	0	0	0	0.004482	0	7	11		
PARP14	54625	broad.mit.edu	37	3	122437553	122437553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:122437553C>T	ENST00000474629.2	+	14	4821	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R1356*(1)|p.R1519*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAGAGTTCGATTGGCCAA	0.398																																						uc003efq.3		NaN																	2	Substitution - Nonsense(2)		large_intestine(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4555-4557)CGA>TGA		poly (ADP-ribose) polymerase family, member 14							206.0	202.0	203.0					3																	122437553		1895	4135	6030	SO:0001587	stop_gained	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437553C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4555C>T	3.37:g.122437553C>T	ENSP00000418194:p.Arg1519*					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1236*|PARP14_uc003efs.1_Nonsense_Mutation_p.R1236*	p.R1519*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4614	+			1519					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	c.4555C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	38	6.995724	0.97990	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	.	.	.	5.05	-2.24	0.06909	.	0.173169	0.39834	N	0.001243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5766	0.45231	0.4345:0.4929:0.0726:0.0	.	.	.	.	X	1519;1438;122;515	.	ENSP00000310633:R122X	R	+	1	2	PARP14	123920243	0.000000	0.05858	0.014000	0.15608	0.352000	0.29268	0.409000	0.21082	-0.182000	0.10602	-0.181000	0.13052	CGA		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		49	263	0	0	0	0.01441	0	49	263		
RASA2	5922	broad.mit.edu	37	3	141326559	141326559	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:141326559T>A	ENST00000452898.1	+	20	2011	c.1976T>A	c.(1975-1977)cTt>cAt	p.L659H	RASA2_ENST00000286364.3_Missense_Mutation_p.L658H|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	659	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAAAACATTCTTGCTGTGGAA	0.264																																						uc003etz.1		NaN																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1972-1974)CTT>CAT		RAS p21 protein activator 2							35.0	37.0	36.0					3																	141326559		2199	4288	6487	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141326559T>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1976T>A	3.37:g.141326559T>A	ENSP00000391677:p.Leu659His					RASA2_uc010huq.1_Missense_Mutation_p.L662H|RASA2_uc003eua.1_Missense_Mutation_p.L659H	p.L658H	NM_006506	NP_006497	Q15283	RASA2_HUMAN			20	1973	+			658			PH.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1973T>A		.	.	.	.	.	.	.	.	.	.	T	18.18	3.566085	0.65651	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	D;D	0.93659	-3.26;-3.26	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.156441	0.45361	D	0.000376	D	0.95287	0.8471	L	0.58583	1.82	0.58432	D	0.999994	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72982	0.979;0.965;0.979	D	0.93761	0.7067	10	0.22109	T	0.4	.	15.6659	0.77230	0.0:0.0:0.0:1.0	.	659;659;658	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	H	658;659	ENSP00000286364:L658H;ENSP00000391677:L659H	ENSP00000286364:L658H	L	+	2	0	RASA2	142809249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	2.162000	0.67917	0.477000	0.44152	CTT		0.264	RASA2-201	KNOWN	basic	protein_coding	protein_coding			NM_006506		8	46	0	0	0	0.010729	0	8	46		
SERPINI2	5276	broad.mit.edu	37	3	167183420	167183420	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:167183420G>C	ENST00000476257.1	-	5	818	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	SERPINI2_ENST00000471111.1_Missense_Mutation_p.L174V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L174V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.L174V			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	174					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L174V(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGCCGAGTCAGAGGGCCAAAT	0.383																																						uc003fer.1		NaN																	1	Substitution - Missense(1)		breast(1)	skin(2)|urinary_tract(1)	3						c.(520-522)CTG>GTG		serpin peptidase inhibitor, clade I (pancpin),							47.0	48.0	48.0					3																	167183420		2201	4300	6501	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183420G>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.520C>G	3.37:g.167183420G>C	ENSP00000420621:p.Leu174Val					SERPINI2_uc003fes.1_Missense_Mutation_p.L184V|SERPINI2_uc003fet.1_Missense_Mutation_p.L174V	p.L174V	NM_006217	NP_006208	O75830	SPI2_HUMAN			3	578	-			174						Missense_Mutation	SNP	ENST00000476257.1	37	c.520C>G	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902991	0.33628	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.74	3.94	0.45596	Serpin domain (3);	0.495277	0.20372	N	0.093622	T	0.82231	0.4992	M	0.74881	2.28	0.29091	N	0.882106	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	T	0.74067	-0.3784	10	0.19147	T	0.46	.	9.4457	0.38695	0.1727:0.0:0.8273:0.0	.	174;174	B4DDY9;O75830	.;SPI2_HUMAN	V	174	ENSP00000420621:L174V;ENSP00000417692:L174V;ENSP00000264677:L174V;ENSP00000419407:L174V;ENSP00000417752:L174V	ENSP00000264677:L174V	L	-	1	2	SERPINI2	168666114	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	1.108000	0.31123	0.768000	0.33290	0.655000	0.94253	CTG		0.383	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1		NM_006217		14	37	0	0	0	0.007413	0	14	37		
LRRC31	79782	broad.mit.edu	37	3	169572606	169572606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:169572606G>T	ENST00000316428.5	-	6	1043	c.986C>A	c.(985-987)tCa>tAa	p.S329*	LRRC31_ENST00000523069.1_Nonsense_Mutation_p.S329*|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Nonsense_Mutation_p.S273*	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	329										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTACTCAGTGACATCACGTC	0.398																																						uc003fgc.1		NaN																	0				ovary(2)|skin(1)	3						c.(985-987)TCA>TAA		leucine rich repeat containing 31							139.0	132.0	134.0					3																	169572606		1880	4104	5984	SO:0001587	stop_gained	79782							g.chr3:169572606G>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.986C>A	3.37:g.169572606G>T	ENSP00000325978:p.Ser329*					LRRC31_uc010hwp.1_Nonsense_Mutation_p.S273*	p.S329*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		6	1063	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		329			LRR 4.		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Nonsense_Mutation	SNP	ENST00000316428.5	37	c.986C>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220938	0.58560	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	.	.	.	4.46	1.65	0.23941	.	0.468894	0.21445	N	0.074426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1814	5.1352	0.14932	0.3124:0.1502:0.5374:0.0	.	.	.	.	X	329;273;329	.	ENSP00000264676:S273X	S	-	2	0	LRRC31	171055300	0.033000	0.19621	0.000000	0.03702	0.020000	0.10135	1.862000	0.39448	0.034000	0.15491	-0.291000	0.09656	TCA		0.398	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1		NM_024727		24	98	1	0	4.15321e-07	0.009535	4.4309e-07	24	98		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>CAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>C	3.37:g.178936091G>C	ENSP00000263967:p.Glu545Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784998	0.90282	.	.	ENSG00000121879	ENST00000263967	T	0.63913	-0.07	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.55990	1.75	0.80722	D	1	D	0.53312	0.959	P	0.53760	0.734	T	0.69709	-0.5072	10	0.45353	T	0.12	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	Q	545	ENSP00000263967:E545Q	ENSP00000263967:E545Q	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				17	58	0	0	0	0.010504	0	17	58		
EPHB3	2049	broad.mit.edu	37	3	184298213	184298213	+	Silent	SNP	C	C	T	rs375412687		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:184298213C>T	ENST00000330394.2	+	12	2648	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTTCACGGTCATCCAGCTGG	0.612																																						uc003foz.2		NaN																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2194-2196)GTC>GTT		ephrin receptor EphB3 precursor		C		1,4405	2.1+/-5.4	0,1,2202	130.0	117.0	121.0		2196	1.8	1.0	3		121	0,8600		0,0,4300	no	coding-synonymous	EPHB3	NM_004443.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		732/999	184298213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298213C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2196C>T	3.37:g.184298213C>T							p.V732V	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		12	2633	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		732			Cytoplasmic (Potential).|Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2196C>T	CCDS3268.1																																																																																				0.612	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1		NM_004443		23	176	0	0	0	0.030593	0	23	176		
FAM13A	10144	broad.mit.edu	37	4	89660243	89660243	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:89660243G>A	ENST00000264344.5	-	20	2707	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	FAM13A_ENST00000508369.1_Silent_p.L508L|FAM13A_ENST00000395002.2_Silent_p.L508L|FAM13A_ENST00000503556.1_Silent_p.L494L|FAM13A_ENST00000513837.1_Silent_p.L480L|FAM13A_ENST00000511976.1_Silent_p.L420L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	834					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGTCGTATAGTGGCTTCATC	0.498																																						uc003hse.1		NaN																	0				ovary(1)|liver(1)	2						c.(2500-2502)CTA>TTA		family with sequence similarity 13, member A1							170.0	136.0	147.0					4																	89660243		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89660243G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2500C>T	4.37:g.89660243G>A						FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.L305L|FAM13A_uc003hsb.1_Silent_p.L508L|FAM13A_uc003hsd.1_Silent_p.L508L|FAM13A_uc003hsc.1_Silent_p.L494L|FAM13A_uc011cdq.1_Silent_p.L480L|FAM13A_uc003hsf.1_Silent_p.L420L|FAM13A_uc003hsg.1_Silent_p.L305L	p.L834L	NM_014883	NP_055698	O94988	FA13A_HUMAN			20	2708	-			834					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.2500C>T	CCDS34029.1																																																																																				0.498	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1				23	62	0	0	0	0.012213	0	23	62		
CCSER1	401145	broad.mit.edu	37	4	91760120	91760120	+	Intron	SNP	C	C	T	rs562839766		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:91760120C>T	ENST00000509176.1	+	8	2382				CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		TTTTCTCTTGCGTCTCTGTCT	0.507																																						uc003hsy.2		NaN																	0					0						c.(67-69)ACG>ACA		thymosin-like 3							117.0	127.0	123.0					4																	91760120		1511	2707	4218	SO:0001627	intron_variant	7117							g.chr4:91760120C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2094+23124C>T	4.37:g.91760120C>T						FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	p.T23T	NM_183049	NP_898870				Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)	1	150	-		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)						Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.69G>A	CCDS47099.1																																																																																				0.507	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3		NM_001145065		9	127	0	0	0	0.006214	0	9	127		
ZGRF1	55345	broad.mit.edu	37	4	113508784	113508784	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:113508784C>G	ENST00000505019.1	-	12	3554	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1143						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCACTTGCTCTGAGTAGATA	0.403																																						uc003iau.2		NaN																	0					0						c.(3427-3429)CAG>CAC		prematurely terminated mRNA decay factor-like							50.0	41.0	44.0					4																	113508784		692	1591	2283	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113508784C>G																												ENST00000505019.1:c.3429G>C	4.37:g.113508784C>G	ENSP00000424737:p.Gln1143His					C4orf21_uc003iav.2_RNA	p.Q1143H	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	12	3640	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3429G>C		.	.	.	.	.	.	.	.	.	.	C	16.25	3.069662	0.55539	.	.	ENSG00000138658	ENST00000505019	D	0.84730	-1.89	5.59	1.86	0.25419	.	.	.	.	.	D	0.82646	0.5082	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.80663	-0.1282	9	0.87932	D	0	.	8.9783	0.35950	0.0:0.2165:0.0:0.7835	.	1143	G5EA02	.	H	1143	ENSP00000424737:Q1143H	ENSP00000404365:Q41H	Q	-	3	2	C4orf21	113728233	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	1.578000	0.36525	0.092000	0.17331	-0.469000	0.05056	CAG		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1				12	41	0	0	0	0.010729	0	12	41		
ANK2	287	broad.mit.edu	37	4	114275328	114275328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275328G>T	ENST00000357077.4	+	38	5607	c.5554G>T	c.(5554-5556)Gag>Tag	p.E1852*	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1819*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1852	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGTAAAACTGAGAAACACTC	0.478																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5554-5556)GAG>TAG		ankyrin 2 isoform 1							173.0	172.0	172.0					4																	114275328		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275328G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5554G>T	4.37:g.114275328G>T	ENSP00000349588:p.Glu1852*					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1867*	p.E1852*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5654	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1819			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.5554G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	44	11.061274	0.99510	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.85	5.85	0.93711	.	0.301725	0.24061	N	0.041916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	.	.	.	X	1852;1819	.	.	E	+	1	0	ANK2	114494777	1.000000	0.71417	0.837000	0.33122	0.870000	0.49936	3.311000	0.51919	2.767000	0.95098	0.655000	0.94253	GAG		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		46	137	1	0	3.40343e-31	0.01441	3.92785e-31	46	137		
ANK2	287	broad.mit.edu	37	4	114275400	114275400	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275400G>A	ENST00000357077.4	+	38	5679	c.5626G>A	c.(5626-5628)Gag>Aag	p.E1876K	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1843K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1876	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTAAAACTGAGAAACACTC	0.458																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5626-5628)GAG>AAG		ankyrin 2 isoform 1							206.0	188.0	194.0					4																	114275400		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275400G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5626G>A	4.37:g.114275400G>A	ENSP00000349588:p.Glu1876Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E1891K	p.E1876K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5726	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1843			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5626G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795855	0.50208	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68903	-0.35;-0.36	5.44	5.44	0.79542	.	0.115053	0.37955	N	0.001861	T	0.61375	0.2342	L	0.51422	1.61	0.80722	D	1	P;P	0.46142	0.799;0.873	B;B	0.42361	0.214;0.385	T	0.60850	-0.7181	9	.	.	.	.	12.149	0.54040	0.081:0.0:0.919:0.0	.	1843;1876	Q01484;Q01484-4	ANK2_HUMAN;.	K	1876;1843	ENSP00000349588:E1876K;ENSP00000264366:E1843K	.	E	+	1	0	ANK2	114494849	0.996000	0.38824	0.979000	0.43373	0.804000	0.45430	0.161000	0.16481	2.832000	0.97577	0.655000	0.94253	GAG		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		43	128	0	0	0	0.01441	0	43	128		
EXOSC9	5393	broad.mit.edu	37	4	122735121	122735121	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122735121G>A	ENST00000243498.5	+	10	1183	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	EXOSC9_ENST00000379663.3_Missense_Mutation_p.E359K|EXOSC9_ENST00000512454.1_Missense_Mutation_p.E343K|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E359K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAGATGATGAAGGCGGTGG	0.453																																						uc003iea.2		NaN																	1	Substitution - Missense(1)		cervix(1)		0						c.(1075-1077)GAA>AAA		exosome component 9 isoform 2							160.0	159.0	159.0					4																	122735121		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122735121G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1075G>A	4.37:g.122735121G>A	ENSP00000243498:p.Glu359Lys					EXOSC9_uc003idz.2_Missense_Mutation_p.E359K|EXOSC9_uc003ieb.2_Missense_Mutation_p.E343K|EXOSC9_uc010inp.1_RNA	p.E359K	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			10	1183	+			359					Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.1075G>A	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475703	0.84640	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.26810	1.71;1.74;1.71	5.49	4.65	0.58169	.	0.348822	0.34291	N	0.004087	T	0.22360	0.0539	L	0.40543	1.245	0.38656	D	0.951951	B;P;B	0.52463	0.051;0.953;0.433	B;P;B	0.45195	0.016;0.473;0.11	T	0.06481	-1.0824	10	0.15066	T	0.55	-30.4547	11.2924	0.49258	0.1456:0.0:0.8544:0.0	.	343;359;359	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	K	359;359;343	ENSP00000243498:E359K;ENSP00000368984:E359K;ENSP00000425782:E343K	ENSP00000243498:E359K	E	+	1	0	EXOSC9	122954571	1.000000	0.71417	0.941000	0.38009	0.945000	0.59286	4.493000	0.60341	1.336000	0.45506	0.551000	0.68910	GAA		0.453	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033		32	87	0	0	0	0.017118	0	32	87		
BBS7	55212	broad.mit.edu	37	4	122766713	122766713	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122766713G>A	ENST00000264499.4	-	11	1359	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	BBS7_ENST00000506636.1_Silent_p.A392A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	392					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGCTGTAACTGGCATCATCTT	0.313									Bardet-Biedl syndrome																													uc003ied.2		NaN																	0				ovary(1)	1						c.(1174-1176)GCC>GCT		Bardet-Biedl syndrome 7 protein isoform a							118.0	114.0	115.0					4																	122766713		2203	4297	6500	SO:0001819	synonymous_variant	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122766713G>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1176C>T	4.37:g.122766713G>A						BBS7_uc003iee.1_Silent_p.A392A	p.A392A	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			11	1350	-			392					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.1176C>T	CCDS3724.1																																																																																				0.313	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1				12	44	0	0	0	0.020292	0	12	44		
C4orf51	646603	broad.mit.edu	37	4	146653608	146653608	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:146653608C>T	ENST00000438731.1	+	6	505	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	169										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TCTCCAGCTTCATGGACGGTG	0.473																																						uc003ikk.2		NaN																	0					0						c.(505-507)CAT>TAT		chromosome 4 open reading frame 51							53.0	55.0	55.0					4																	146653608		1962	4154	6116	SO:0001583	missense	646603							g.chr4:146653608C>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.505C>T	4.37:g.146653608C>T	ENSP00000391404:p.His169Tyr						p.H169Y	NM_001080531	NP_001074000	C9J302	CD051_HUMAN			6	505	+			169						Missense_Mutation	SNP	ENST00000438731.1	37	c.505C>T	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974829	0.34848	.	.	ENSG00000237136	ENST00000438731	.	.	.	3.77	2.93	0.34026	.	.	.	.	.	T	0.24774	0.0601	N	0.14661	0.345	0.20307	N	0.999917	B	0.06786	0.001	B	0.06405	0.002	T	0.14364	-1.0475	8	0.46703	T	0.11	.	7.3291	0.26571	0.0:0.8821:0.0:0.1179	.	169	C9J302	CD051_HUMAN	Y	169	.	ENSP00000391404:H169Y	H	+	1	0	C4orf51	146873058	0.506000	0.26139	0.654000	0.29608	0.220000	0.24768	1.482000	0.35486	1.183000	0.42943	0.555000	0.69702	CAT		0.473	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080531		6	23	0	0	0	0.02938	0	6	23		
DCLK2	166614	broad.mit.edu	37	4	151124998	151124998	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:151124998C>G	ENST00000296550.7	+	5	1767	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	DCLK2_ENST00000302176.8_Missense_Mutation_p.S355C|DCLK2_ENST00000506325.1_Missense_Mutation_p.S338C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	338	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACGAAATCCTCCAGTTCCTCT	0.393																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NaN																	0				ovary(3)	3						c.(1012-1014)TCC>TGC		doublecortin-like kinase 2 isoform a							116.0	107.0	110.0					4																	151124998		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151124998C>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1013C>G	4.37:g.151124998C>G	ENSP00000296550:p.Ser338Cys					DCLK2_uc003iln.3_Missense_Mutation_p.S338C|DCLK2_uc003ilo.3_Missense_Mutation_p.S355C|DCLK2_uc003ilp.3_RNA	p.S338C	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			5	1113	+	all_hematologic(180;0.151)		338			Ser-rich.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1013C>G	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350930	0.82132	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.69561	0.89;0.89;-0.41	5.88	5.88	0.94601	.	0.103999	0.64402	D	0.000002	T	0.79058	0.4382	M	0.64997	1.995	0.52501	D	0.999953	D;D;D	0.71674	0.998;0.996;0.998	P;P;P	0.61722	0.893;0.891;0.847	T	0.78856	-0.2039	10	0.56958	D	0.05	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	355;338;338	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	C	338;338;355	ENSP00000296550:S338C;ENSP00000427235:S338C;ENSP00000303887:S355C	ENSP00000296550:S338C	S	+	2	0	DCLK2	151344448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.045000	0.71020	2.779000	0.95612	0.637000	0.83480	TCC		0.393	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260		18	109	0	0	0	0.012319	0	18	109		
FHDC1	85462	broad.mit.edu	37	4	153893636	153893636	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:153893636G>A	ENST00000511601.1	+	11	1514	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	FHDC1_ENST00000260008.3_Silent_p.L442L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	442	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCATGAAACTGGATGAATGCT	0.393																																						uc003inf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1324-1326)CTG>CTA		FH2 domain containing 1							104.0	108.0	106.0					4																	153893636		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893636G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1326G>A	4.37:g.153893636G>A							p.L442L	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	1401	+	all_hematologic(180;0.093)		442			FH2.			Silent	SNP	ENST00000511601.1	37	c.1326G>A	CCDS34081.1																																																																																				0.393	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2		NM_033393		19	81	0	0	0	0.010504	0	19	81		
GUCY1A3	2982	broad.mit.edu	37	4	156638380	156638380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:156638380C>T	ENST00000296518.7	+	8	1851	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.Q290*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.Q548*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	548	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCATGCTGTTCAGATAGCGCT	0.423																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1642-1644)CAG>TAG		guanylate cyclase 1, soluble, alpha 3 isoform A							146.0	137.0	140.0					4																	156638380		2203	4300	6503	SO:0001587	stop_gained	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156638380C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1642C>T	4.37:g.156638380C>T	ENSP00000296518:p.Gln548*					GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003iow.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqd.2_Nonsense_Mutation_p.Q547*|GUCY1A3_uc003iox.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003ioz.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ioy.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqe.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Nonsense_Mutation_p.Q548*	p.Q548*	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	2178	+	all_hematologic(180;0.24)	Renal(120;0.0854)	548			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1642C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	43	9.835143	0.99276	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	19.6996	0.96048	0.0:1.0:0.0:0.0	.	.	.	.	X	548;548;548;548;290;548;548	.	ENSP00000296518:Q548X	Q	+	1	0	GUCY1A3	156857830	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	4.795000	0.62489	2.646000	0.89796	0.655000	0.94253	CAG		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				14	54	0	0	0	0.0333	0	14	54		
EXOC3	11336	broad.mit.edu	37	5	453801	453801	+	Silent	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:453801T>A	ENST00000512944.1	+	4	870	c.681T>A	c.(679-681)ctT>ctA	p.L227L	EXOC3_ENST00000315013.5_Silent_p.L227L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	238					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCGCATACTTGACCGGAAAA	0.507																																						uc003jba.2		NaN																	0					0						c.(679-681)CTT>CTA		Sec6 protein							111.0	109.0	110.0					5																	453801		1950	4149	6099	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:453801T>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.681T>A	5.37:g.453801T>A							p.L227L	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	809	+		Ovarian(839;0.0563)	238					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.681T>A	CCDS54830.1																																																																																				0.507	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1		NM_007277		21	91	0	0	0	0.01892	0	21	91		
ADCY2	108	broad.mit.edu	37	5	7773096	7773096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:7773096C>T	ENST00000338316.4	+	18	2355	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R576W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	756					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCCTGCGGGTAAACTA	0.502																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2266-2268)CGG>TGG		adenylate cyclase 2							272.0	233.0	246.0					5																	7773096		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773096C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2266C>T	5.37:g.7773096C>T	ENSP00000342952:p.Arg756Trp					ADCY2_uc011cmo.1_Missense_Mutation_p.R576W	p.R756W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2333	+			756					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2266C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610858	0.46527	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.83673	-1.29;-1.75	4.87	3.0	0.34707	.	0.135219	0.52532	D	0.000064	D	0.89322	0.6682	M	0.76328	2.33	0.53688	D	0.999979	D;P	0.89917	1.0;0.481	D;B	0.72075	0.976;0.12	D	0.88789	0.3276	10	0.87932	D	0	.	11.7165	0.51657	0.4705:0.5295:0.0:0.0	.	576;756	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	756;589;576	ENSP00000342952:R756W;ENSP00000444803:R576W	ENSP00000342952:R756W	R	+	1	2	ADCY2	7826096	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.276000	0.43408	0.411000	0.25702	0.467000	0.42956	CGG		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		26	126	0	0	0	0.037714	0	26	126		
SEMA5A	9037	broad.mit.edu	37	5	9197325	9197325	+	Silent	SNP	C	C	T	rs373379909		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:9197325C>T	ENST00000382496.5	-	10	1688	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	341	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.S341S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGCCGAGCGCGAGTTTTCTT	0.592																																						uc003jek.2		NaN																	1	Substitution - coding silent(1)		prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(1021-1023)TCG>TCA		semaphorin 5A precursor		C		1,4405	2.1+/-5.4	0,1,2202	90.0	88.0	89.0		1023	-10.6	0.0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA5A	NM_003966.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		341/1075	9197325	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197325C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1023G>A	5.37:g.9197325C>T							p.S341S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			10	1735	-			341			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1023G>A	CCDS3875.1																																																																																				0.592	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				18	64	0	0	0	0.007413	0	18	64		
TRIO	7204	broad.mit.edu	37	5	14387596	14387596	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:14387596G>C	ENST00000344204.4	+	22	3644	c.3620G>C	c.(3619-3621)tGt>tCt	p.C1207S	TRIO_ENST00000537187.1_Missense_Mutation_p.C1207S|TRIO_ENST00000509967.2_Missense_Mutation_p.C1158S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1207					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATGGCTTTTGTGAAAAAGGG	0.448																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3619-3621)TGT>TCT		triple functional domain (PTPRF interacting)							114.0	123.0	120.0					5																	14387596		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387596G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3620G>C	5.37:g.14387596G>C	ENSP00000339299:p.Cys1207Ser					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.C1158S|TRIO_uc003jfh.1_Missense_Mutation_p.C856S	p.C1207S	NM_007118	NP_009049	O75962	TRIO_HUMAN			22	3626	+	Lung NSC(4;0.000742)		1207			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3620G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544936	0.65198	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.41065	1.01;1.01;1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	N	0.22421	0.69	0.58432	D	0.99999	P;B;D	0.53312	0.823;0.007;0.959	B;B;P	0.50049	0.339;0.018;0.629	T	0.05178	-1.0901	10	0.14252	T	0.57	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1158;1207;1207	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	S	1207;1207;1158;894	ENSP00000339299:C1207S;ENSP00000446348:C1207S;ENSP00000445592:C1158S	ENSP00000339299:C1207S	C	+	2	0	TRIO	14440596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.826000	0.97356	0.655000	0.94253	TGT		0.448	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		19	73	0	0	0	0.014323	0	19	73		
ITGA2	3673	broad.mit.edu	37	5	52377489	52377489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:52377489C>T	ENST00000296585.5	+	26	3250	c.3107C>T	c.(3106-3108)tCt>tTt	p.S1036F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1036					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCTGTATCTTTCAAAAGT	0.398																																						uc003joy.2		NaN																	0				lung(1)	1						c.(3106-3108)TCT>TTT		integrin alpha 2 precursor							90.0	84.0	86.0					5																	52377489		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52377489C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3107C>T	5.37:g.52377489C>T	ENSP00000296585:p.Ser1036Phe					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S960F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.S1036F	NM_002203	NP_002194	P17301	ITA2_HUMAN			26	3250	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1036			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.3107C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718623	0.48622	.	.	ENSG00000164171	ENST00000296585	T	0.50277	0.75	6.08	5.21	0.72293	Integrin alpha-2 (1);	0.243014	0.42294	D	0.000724	T	0.44244	0.1284	N	0.24115	0.695	0.41190	D	0.986297	P	0.40875	0.731	P	0.47118	0.538	T	0.41805	-0.9488	10	0.42905	T	0.14	.	14.8841	0.70555	0.1436:0.8564:0.0:0.0	.	1036	P17301	ITA2_HUMAN	F	1036	ENSP00000296585:S1036F	ENSP00000296585:S1036F	S	+	2	0	ITGA2	52413246	0.996000	0.38824	0.997000	0.53966	0.846000	0.48090	3.752000	0.55172	1.568000	0.49683	0.655000	0.94253	TCT		0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		NM_002203		6	20	0	0	0	0.00308	0	6	20		
MAP1B	4131	broad.mit.edu	37	5	71490041	71490041	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:71490041G>A	ENST00000296755.7	+	5	1157	c.859G>A	c.(859-861)Gga>Aga	p.G287R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	287					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCAATGGCGGATCAGAGAG	0.483																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(859-861)GGA>AGA		microtubule-associated protein 1B							81.0	86.0	84.0					5																	71490041		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490041G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.859G>A	5.37:g.71490041G>A	ENSP00000296755:p.Gly287Arg					MAP1B_uc010iyw.1_Missense_Mutation_p.G304R|MAP1B_uc010iyx.1_Missense_Mutation_p.G161R|MAP1B_uc010iyy.1_Missense_Mutation_p.G161R	p.G287R	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1100	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	287					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.859G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157437	0.78114	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.08008	3.14;3.14;3.14	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.36276	0.0961	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04140	-1.0974	10	0.87932	D	0	-19.4778	20.6525	0.99598	0.0:0.0:1.0:0.0	.	161;287	A2BDK6;P46821	.;MAP1B_HUMAN	R	287;304;161	ENSP00000296755:G287R;ENSP00000423444:G304R;ENSP00000423416:G161R	ENSP00000296755:G287R	G	+	1	0	MAP1B	71525797	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GGA		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		17	95	0	0	0	0.0333	0	17	95		
ANKRD34B	340120	broad.mit.edu	37	5	79854455	79854455	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:79854455C>A	ENST00000338682.3	-	5	2056	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	462						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ACATTGATATCTGAGATGGGA	0.413																																						uc010jam.2		NaN																	0				pancreas(1)	1						c.(1384-1386)GAT>TAT		ankyrin repeat domain 34B							157.0	162.0	160.0					5																	79854455		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854455C>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1384G>T	5.37:g.79854455C>A	ENSP00000339802:p.Asp462Tyr					ANKRD34B_uc003kgw.2_Missense_Mutation_p.D462Y|ANKRD34B_uc010jan.2_Missense_Mutation_p.D462Y	p.D462Y	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1734	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	462					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1384G>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613041	0.46631	.	.	ENSG00000189127	ENST00000338682	T	0.23348	1.91	6.04	6.04	0.98038	.	0.147923	0.39687	N	0.001284	T	0.53254	0.1785	M	0.77313	2.365	0.58432	D	0.999993	D	0.89917	1.0	D	0.63488	0.915	T	0.53556	-0.8422	10	0.87932	D	0	-13.2946	19.1729	0.93588	0.0:1.0:0.0:0.0	.	462	A5PLL1	AN34B_HUMAN	Y	462	ENSP00000339802:D462Y	ENSP00000339802:D462Y	D	-	1	0	ANKRD34B	79890211	1.000000	0.71417	0.116000	0.21606	0.440000	0.31957	5.757000	0.68766	2.873000	0.98535	0.563000	0.77884	GAT		0.413	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1		NM_001004441		31	160	1	0	6.97489e-18	0.021022	7.8521e-18	31	160		
YTHDC2	64848	broad.mit.edu	37	5	112915339	112915339	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:112915339A>G	ENST00000161863.4	+	24	3514	c.3301A>G	c.(3301-3303)Aat>Gat	p.N1101D		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1101					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACTACAGCTAATTTGGCAGC	0.373																																						uc003kqn.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(3301-3303)AAT>GAT		YTH domain containing 2							173.0	175.0	174.0					5																	112915339		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112915339A>G	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3301A>G	5.37:g.112915339A>G	ENSP00000161863:p.Asn1101Asp						p.N1101D	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	24	3484	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1101					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3301A>G	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652655	0.47362	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02606	4.23	5.82	3.41	0.39046	.	0.237456	0.42420	D	0.000705	T	0.02267	0.0070	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35649	-0.9780	10	0.06236	T	0.91	.	8.1884	0.31352	0.7949:0.1358:0.0693:0.0	.	1101	Q9H6S0	YTDC2_HUMAN	D	1101;1011	ENSP00000161863:N1101D	ENSP00000161863:N1101D	N	+	1	0	YTHDC2	112943238	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.480000	0.45206	0.994000	0.38892	0.533000	0.62120	AAT		0.373	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2		NM_022828		61	138	0	0	0	0.01441	0	61	138		
PAIP2	51247	broad.mit.edu	37	5	138700267	138700267	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:138700267A>T	ENST00000394795.2	+	3	1144	c.153A>T	c.(151-153)ttA>ttT	p.L51F	CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000265192.4_Missense_Mutation_p.L51F|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.L51F			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	51	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAGGAGTTATGGGAAGAAG	0.348																																						uc003led.2		NaN																	0					0						c.(151-153)TTA>TTT		poly(A) binding protein interacting protein 2							66.0	66.0	66.0					5																	138700267		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138700267A>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.153A>T	5.37:g.138700267A>T	ENSP00000378275:p.Leu51Phe					PAIP2_uc003lee.2_Missense_Mutation_p.L51F|PAIP2_uc003lef.2_Missense_Mutation_p.L51F	p.L51F	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	330	+			51			Glu-rich.|PABPC1-interacting motif-1 (PAM1).		B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.153A>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.578550	0.86645	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	6.03	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.70290	0.3207	M	0.74467	2.265	0.43103	D	0.994793	D	0.64830	0.994	D	0.75484	0.986	T	0.71391	-0.4607	9	0.87932	D	0	-11.0219	5.5281	0.16968	0.413:0.0:0.587:0.0	.	51	Q9BPZ3	PAIP2_HUMAN	F	51	.	ENSP00000265192:L51F	L	+	3	2	PAIP2	138728166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.051000	0.41307	1.116000	0.41820	0.533000	0.62120	TTA		0.348	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1		NM_016480		7	49	0	0	0	0.008291	0	7	49		
PCDHA8	56140	broad.mit.edu	37	5	140222772	140222772	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140222772C>T	ENST00000531613.1	+	1	1866	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	PCDHA8_ENST00000378123.3_Silent_p.F622F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	622	Cadherin 6. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.647																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1864-1866)TTC>TTT		protocadherin alpha 8 isoform 1 precursor							100.0	99.0	99.0					5																	140222772		2198	4271	6469	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222772C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1866C>T	5.37:g.140222772C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F622F	p.F622F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1866	+			622			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1866C>T	CCDS54919.1																																																																																				0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		49	109	0	0	0	0.01441	0	49	109		
PCDHB14	56122	broad.mit.edu	37	5	140603436	140603436	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140603436A>G	ENST00000239449.4	+	1	359	c.359A>G	c.(358-360)gAg>gGg	p.E120G	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGGTTTGAGCTGTGTGTC	0.423																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NaN																	0				ovary(1)	1						c.(358-360)GAG>GGG		protocadherin beta 14 precursor							84.0	94.0	90.0					5																	140603436		2202	4300	6502	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603436A>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.359A>G	5.37:g.140603436A>G	ENSP00000239449:p.Glu120Gly					PCDHB14_uc011dal.1_Intron	p.E120G	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	359	+			120			Extracellular (Potential).|Cadherin 1.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.359A>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	19.23	3.787899	0.70337	.	.	ENSG00000120327	ENST00000239449	T	0.56776	0.44	4.92	4.92	0.64577	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.76630	0.4014	H	0.95539	3.685	0.80722	D	1	D	0.53151	0.958	P	0.56648	0.803	D	0.84621	0.0684	9	0.87932	D	0	.	14.5321	0.67934	1.0:0.0:0.0:0.0	.	120	Q9Y5E9	PCDBE_HUMAN	G	120	ENSP00000239449:E120G	ENSP00000239449:E120G	E	+	2	0	PCDHB14	140583620	0.000000	0.05858	0.990000	0.47175	0.945000	0.59286	0.163000	0.16520	1.971000	0.57363	0.528000	0.53228	GAG		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2		NM_018934		24	85	0	0	0	0.009535	0	24	85		
POU4F3	5459	broad.mit.edu	37	5	145719138	145719138	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:145719138G>C	ENST00000230732.4	+	2	237	c.148G>C	c.(148-150)Gat>Cat	p.D50H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	50					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGCTTTGATGAGAGCCT	0.537																																						uc003loa.2		NaN																	0					0						c.(148-150)GAT>CAT		POU class 4 homeobox 3							64.0	67.0	66.0					5																	145719138		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719138G>C	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.148G>C	5.37:g.145719138G>C	ENSP00000230732:p.Asp50His						p.D50H	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	237	+			50					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.148G>C	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190840	0.58017	.	.	ENSG00000091010	ENST00000230732	T	0.26223	1.75	4.63	3.76	0.43208	.	0.130960	0.50627	D	0.000105	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.55717	-0.8097	10	0.87932	D	0	.	11.732	0.51744	0.0881:0.0:0.9119:0.0	.	50	Q15319	PO4F3_HUMAN	H	50	ENSP00000230732:D50H	ENSP00000230732:D50H	D	+	1	0	POU4F3	145699331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.530000	0.98051	1.160000	0.42584	0.462000	0.41574	GAT		0.537	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2		NM_002700		31	46	0	0	0	0.017118	0	31	46		
KIF4B	285643	broad.mit.edu	37	5	154395261	154395261	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:154395261G>A	ENST00000435029.4	+	1	2002	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	614					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.K614N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTGAAGAAGAAACTGAATG	0.463																																						uc010jih.1		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(1840-1842)AAG>AAA		kinesin family member 4B							123.0	119.0	120.0					5																	154395261		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395261G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1842G>A	5.37:g.154395261G>A							p.K614K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2002	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	614			Potential.			Silent	SNP	ENST00000435029.4	37	c.1842G>A	CCDS47324.1																																																																																				0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1				29	54	0	0	0	0.019004	0	29	54		
ITK	3702	broad.mit.edu	37	5	156679642	156679642	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:156679642C>T	ENST00000422843.3	+	17	1969	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCAGCCTTCTCCAGACTGCTG	0.468			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NaN		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(1816-1818)TCC>TTC		IL2-inducible T-cell kinase							105.0	109.0	108.0					5																	156679642		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156679642C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1817C>T	5.37:g.156679642C>T	ENSP00000398655:p.Ser606Phe						p.S606F	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		17	1899	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	606			Protein kinase.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.1817C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831277	0.71258	.	.	ENSG00000113263	ENST00000422843	D	0.83837	-1.77	5.45	4.58	0.56647	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.337573	0.35870	N	0.002926	T	0.81969	0.4935	M	0.69358	2.11	0.40345	D	0.97907	P	0.42871	0.792	B	0.41236	0.351	T	0.83281	-0.0038	10	0.52906	T	0.07	.	13.3357	0.60516	0.0:0.8302:0.1698:0.0	.	606	Q08881	ITK_HUMAN	F	606	ENSP00000398655:S606F	ENSP00000398655:S606F	S	+	2	0	ITK	156612220	0.996000	0.38824	0.994000	0.49952	0.995000	0.86356	3.429000	0.52800	1.305000	0.44909	0.561000	0.74099	TCC		0.468	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2				37	67	0	0	0	0.01441	0	37	67		
TFAP2A	7020	broad.mit.edu	37	6	10404842	10404842	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:10404842G>A	ENST00000482890.1	-	5	1015	c.663C>T	c.(661-663)ctC>ctT	p.L221L	TFAP2A_ENST00000379604.2_Silent_p.L221L|TFAP2A_ENST00000379608.3_Silent_p.L215L|TFAP2A_ENST00000319516.4_Silent_p.L217L|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Silent_p.L223L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	221					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGTGGAGCTGAGGAGCGAGA	0.622																																						uc003myr.2		NaN																	0				ovary(1)	1						c.(661-663)CTC>CTT		transcription factor AP-2 alpha isoform a							61.0	56.0	58.0					6																	10404842		2203	4300	6503	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404842G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.663C>T	6.37:g.10404842G>A						TFAP2A_uc003myq.2_Silent_p.L215L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.L221L|TFAP2A_uc003myt.2_Silent_p.L217L|TFAP2A_uc003myu.1_Silent_p.L221L	p.L221L	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	915	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	221					Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.663C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853090	0.32699	.	.	ENSG00000137203	ENST00000475264	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	T	0.61553	0.2356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60403	-0.7270	4	.	.	.	-12.7551	14.3161	0.66452	0.0735:0.0:0.9265:0.0	.	.	.	.	L	126	.	.	S	-	2	0	TFAP2A	10512828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.558000	0.86282	0.655000	0.94253	TCA		0.622	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		14	29	0	0	0	0.0333	0	14	29		
HSPA1L	3305	broad.mit.edu	37	6	31777967	31777967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:31777967C>T	ENST00000375654.4	-	2	1972	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D595N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	595					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTTATGATCAAACTCATCT	0.448																																						uc003nxh.2		NaN																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1783-1785)GAT>AAT		heat shock 70kDa protein 1-like							130.0	118.0	122.0					6																	31777967		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31777967C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1783G>A	6.37:g.31777967C>T	ENSP00000364805:p.Asp595Asn					HSPA1L_uc010jte.2_Missense_Mutation_p.D595N	p.D595N	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1966	-			595					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1783G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504483	0.26949	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.14022	2.54;2.54	5.94	5.94	0.96194	.	0.219620	0.23091	N	0.052027	T	0.06781	0.0173	L	0.38531	1.155	0.34223	D	0.675624	B	0.22480	0.07	B	0.29176	0.099	T	0.08411	-1.0723	10	0.87932	D	0	-11.4741	11.1641	0.48533	0.0:0.9171:0.0:0.0829	.	595	P34931	HS71L_HUMAN	N	595;595;540	ENSP00000364805:D595N;ENSP00000387691:D595N	ENSP00000364804:D540N	D	-	1	0	HSPA1L	31885946	1.000000	0.71417	0.990000	0.47175	0.214000	0.24535	5.116000	0.64661	2.807000	0.96579	0.591000	0.81541	GAT		0.448	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2				32	97	0	0	0	0.030466	0	32	97		
GPSM3	63940	broad.mit.edu	37	6	32159216	32159216	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:32159216T>C	ENST00000375040.3	-	4	802	c.410A>G	c.(409-411)gAg>gGg	p.E137G	GPSM3_ENST00000487761.1_Missense_Mutation_p.E134G|GPSM3_ENST00000375043.3_Missense_Mutation_p.E137G|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	137	GoLoco 3. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CAGCAGCAACTCCAGGAGCTC	0.642																																						uc003oay.3		NaN																	0					0						c.(409-411)GAG>GGG		G-protein signaling modulator 3 (AGS3-like, C.							54.0	61.0	59.0					6																	32159216		2203	4300	6503	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159216T>C	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.410A>G	6.37:g.32159216T>C	ENSP00000364180:p.Glu137Gly					PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.E114G|GPSM3_uc003oaz.2_Missense_Mutation_p.E137G	p.E137G	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN			4	803	-			137			GoLoco 3.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.410A>G	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.681865	0.68042	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.51	4.51	0.55191	GoLoco motif (3);	0.285616	0.23232	U	0.050442	T	0.33731	0.0873	N	0.08118	0	0.34659	D	0.722515	D;D	0.71674	0.995;0.998	D;D	0.72338	0.926;0.977	T	0.48906	-0.8993	9	0.72032	D	0.01	-27.4375	10.1513	0.42796	0.0:0.0:0.0:1.0	.	137;137	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	G	134;137;137	.	ENSP00000364180:E137G	E	-	2	0	GPSM3	32267194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.386000	0.44380	1.898000	0.54952	0.460000	0.39030	GAG		0.642	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1		NM_022107		31	51	0	0	0	0.010818	0	31	51		
COL21A1	81578	broad.mit.edu	37	6	56006588	56006588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:56006588C>G	ENST00000244728.5	-	12	1934	c.1537G>C	c.(1537-1539)Gac>Cac	p.D513H	COL21A1_ENST00000370819.1_Missense_Mutation_p.D510H|COL21A1_ENST00000535941.1_Missense_Mutation_p.D513H	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	513	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTACCTTGTCACCATCTCGC	0.388																																						uc003pcs.2		NaN																	0				ovary(2)	2						c.(1537-1539)GAC>CAC		collagen, type XXI, alpha 1 precursor							174.0	159.0	164.0					6																	56006588		1933	4143	6076	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006588C>G	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1537G>C	6.37:g.56006588C>G	ENSP00000244728:p.Asp513His					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D513H|COL21A1_uc003pcu.1_Missense_Mutation_p.D510H	p.D513H	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1769	-	Lung NSC(77;0.0483)		513					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1537G>C	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669537	0.29693	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.16597	2.33;2.33;2.33	5.15	2.25	0.28309	.	1.356430	0.04983	N	0.465906	T	0.06872	0.0175	L	0.49778	1.585	0.58432	D	0.999999	B;B	0.27559	0.177;0.181	B;B	0.17979	0.015;0.02	T	0.25257	-1.0137	10	0.49607	T	0.09	.	5.8955	0.18937	0.0:0.6127:0.2031:0.1842	.	510;513	Q96P44-3;Q96P44	.;COLA1_HUMAN	H	513;510;513;510	ENSP00000244728:D513H;ENSP00000359855:D510H;ENSP00000444384:D513H	ENSP00000244728:D513H	D	-	1	0	COL21A1	56114547	0.984000	0.35163	0.997000	0.53966	0.868000	0.49771	0.201000	0.17276	0.595000	0.29777	-0.137000	0.14449	GAC		0.388	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2				19	59	0	0	0	0.01892	0	19	59		
ZNF292	23036	broad.mit.edu	37	6	87971379	87971379	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:87971379A>G	ENST00000369577.3	+	8	8075	c.8032A>G	c.(8032-8034)Act>Gct	p.T2678A	ZNF292_ENST00000339907.4_Missense_Mutation_p.T2673A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2678						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAGATTGCACTGAGCTTGT	0.348																																						uc003plm.3		NaN																	0				ovary(4)	4						c.(8032-8034)ACT>GCT		zinc finger protein 292							53.0	50.0	51.0					6																	87971379		1832	4080	5912	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87971379A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.8032A>G	6.37:g.87971379A>G	ENSP00000358590:p.Thr2678Ala						p.T2678A	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	8073	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2678					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.8032A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	0.049	-1.257265	0.01457	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06528	3.29;3.3	6.05	4.87	0.63330	.	0.261378	0.44688	D	0.000424	T	0.02888	0.0086	L	0.57536	1.79	0.25596	N	0.986642	B	0.16166	0.016	B	0.16289	0.015	T	0.35400	-0.9790	10	0.31617	T	0.26	.	12.3348	0.55060	0.8698:0.0:0.0:0.1302	.	2678	O60281	ZN292_HUMAN	A	2678;2673	ENSP00000358590:T2678A;ENSP00000342847:T2673A	ENSP00000342847:T2673A	T	+	1	0	ZNF292	88028098	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.587000	0.36622	1.061000	0.40601	0.528000	0.53228	ACT		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021		7	16	0	0	0	0.02938	0	7	16		
AIM1	202	broad.mit.edu	37	6	106975304	106975304	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:106975304G>C	ENST00000369066.3	+	5	3800	c.3313G>C	c.(3313-3315)Gat>Cat	p.D1105H		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCAGAGTCTGATAAGCCAGT	0.403																																						uc003prh.2		NaN																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3313-3315)GAT>CAT		absent in melanoma 1							247.0	236.0	240.0					6																	106975304		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106975304G>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3313G>C	6.37:g.106975304G>C	ENSP00000358062:p.Asp1105His						p.D1105H	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3800	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1105			Beta/gamma crystallin 'Greek key' 2.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3313G>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	1.732	-0.493798	0.04322	.	.	ENSG00000112297	ENST00000369066	T	0.72167	-0.63	5.29	-0.994	0.10225	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	1.591160	0.02986	N	0.146226	T	0.38214	0.1032	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.32241	-0.9914	10	0.37606	T	0.19	.	10.0962	0.42478	0.2087:0.5707:0.2206:0.0	.	1105	Q9Y4K1	AIM1_HUMAN	H	1105	ENSP00000358062:D1105H	ENSP00000358062:D1105H	D	+	1	0	AIM1	107081997	0.000000	0.05858	0.002000	0.10522	0.111000	0.19643	-0.056000	0.11787	-0.179000	0.10654	0.650000	0.86243	GAT		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1				52	258	0	0	0	0.01441	0	52	258		
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(2077-2079)GGG>GAG		laminin alpha 2 subunit isoform a precursor							69.0	67.0	68.0					6																	129573422		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129573422G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2078G>A	6.37:g.129573422G>A	ENSP00000400365:p.Gly693Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.G693E	p.G693E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	14	2183	+			693			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2078G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702818	0.30232	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.53	3.73	0.42828	Laminin B type IV (2);Laminin B, subgroup (1);	0.126999	0.53938	D	0.000054	T	0.14442	0.0349	L	0.33792	1.035	0.41195	D	0.986335	B;B	0.17852	0.024;0.024	B;B	0.20384	0.029;0.029	T	0.04347	-1.0958	10	0.56958	D	0.05	.	11.0658	0.47974	0.0674:0.0:0.8036:0.1289	.	693;693	A6NF00;P24043	.;LAMA2_HUMAN	E	693	ENSP00000400365:G693E	ENSP00000346769:G693E	G	+	2	0	LAMA2	129615115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.039000	0.57325	0.790000	0.33803	0.585000	0.79938	GGG		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				7	62	0	0	0	0.00308	0	7	62		
EPB41L2	2037	broad.mit.edu	37	6	131190961	131190961	+	Silent	SNP	C	C	T	rs186506443	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:131190961C>T	ENST00000337057.3	-	15	2530	c.2349G>A	c.(2347-2349)ccG>ccA	p.P783P	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.P713P|EPB41L2_ENST00000527411.1_Silent_p.P713P|EPB41L2_ENST00000368128.2_Silent_p.P783P|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.P713P|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Silent_p.P161P|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Silent_p.P713P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	783					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGCTGCCGGGCGGGGTT	0.577																																						uc003qch.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2347-2349)CCG>CCA		erythrocyte membrane protein band 4.1-like 2		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	154.0	157.0	156.0		,,2139,2139,2349	1.9	0.3	6		156	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,coding-synonymous,coding-synonymous,coding-synonymous	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,	,,713/853,713/853,783/1006	131190961	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190961C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2349G>A	6.37:g.131190961C>T						EPB41L2_uc003qce.1_Silent_p.P161P|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Silent_p.P713P|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Silent_p.P713P|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Silent_p.P180P	p.P783P	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2531	-	Breast(56;0.0639)		783					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.2349G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092060	0.01858	2.27E-4	1.16E-4	ENSG00000079819	ENST00000456097	.	.	.	5.6	1.92	0.25849	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.21105	N	0.999786	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	.	9.0471	0.36354	0.0:0.3303:0.0:0.6697	.	.	.	.	S	326	.	.	G	-	1	0	EPB41L2	131232654	0.000000	0.05858	0.313000	0.25210	0.471000	0.32888	-0.237000	0.08990	0.415000	0.25817	-1.587000	0.00848	GGC		0.577	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3				47	220	0	0	0	0.01441	0	47	220		
TAAR9	134860	broad.mit.edu	37	6	132860331	132860331	+	RNA	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:132860331T>A	ENST00000434551.1	+	0	903					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGTGTGTTTATTATAATTCAG	0.348																																					Colon(10;433 445 15992 45047 47213)	uc011eci.1		NaN																	0					0						c.(901-903)TAT>TAA		trace amine associated receptor 9							93.0	85.0	87.0					6																	132860331		1856	4106	5962			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860331T>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860331T>A							p.Y301*	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	905	+	Breast(56;0.112)		301			Helical; Name=7; (Potential).			Nonsense_Mutation	SNP	ENST00000434551.1	37	c.903T>A																																																																																					0.348	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2		NM_175057		4	12	0	0	0	0.014758	0	4	12		
SHPRH	257218	broad.mit.edu	37	6	146256489	146256489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:146256489C>G	ENST00000367505.2	-	12	2922	c.2658G>C	c.(2656-2658)aaG>aaC	p.K886N	SHPRH_ENST00000438092.2_Missense_Mutation_p.K886N|SHPRH_ENST00000367503.3_Missense_Mutation_p.K886N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K886N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	886					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGGATTCTTCTTGCAGTAAG	0.393																																						uc003qlf.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2656-2658)AAG>AAC		SNF2 histone linker PHD RING helicase isoform a							92.0	84.0	87.0					6																	146256489		1885	4109	5994	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146256489C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2658G>C	6.37:g.146256489C>G	ENSP00000356475:p.Lys886Asn					SHPRH_uc003qld.2_Missense_Mutation_p.K886N|SHPRH_uc003qle.2_Missense_Mutation_p.K886N|SHPRH_uc003qlg.1_Missense_Mutation_p.K442N|SHPRH_uc003qlj.1_Missense_Mutation_p.K775N|SHPRH_uc003qlh.2_5'Flank	p.K886N	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	12	3057	-		Ovarian(120;0.0365)	886					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2658G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637363	0.47049	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.84	4.06	0.47325	SNF2-related (1);	0.208534	0.38605	N	0.001633	D	0.83746	0.5321	L	0.27944	0.81	0.36861	D	0.888392	B;P;P	0.36837	0.277;0.571;0.515	B;B;B	0.43123	0.157;0.409;0.286	T	0.81306	-0.0992	10	0.24483	T	0.36	-13.9752	9.8335	0.40956	0.0:0.7868:0.0:0.2132	.	775;886;886	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	N	886	ENSP00000356475:K886N;ENSP00000356473:K886N;ENSP00000412797:K886N;ENSP00000275233:K886N	ENSP00000275233:K886N	K	-	3	2	SHPRH	146298182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.926000	0.28804	1.475000	0.48197	0.655000	0.94253	AAG		0.393	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2		NM_173082		14	47	0	0	0	0.020292	0	14	47		
IPCEF1	26034	broad.mit.edu	37	6	154521101	154521101	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:154521101G>T	ENST00000265198.4	-	10	763	c.608C>A	c.(607-609)aCa>aAa	p.T203K	IPCEF1_ENST00000519091.1_5'UTR|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.T175K|IPCEF1_ENST00000367220.4_Missense_Mutation_p.T204K|IPCEF1_ENST00000422970.2_Missense_Mutation_p.T204K	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	203	Ser-rich.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGTCTTCACTGTATTTTCCAG	0.433																																						uc003qpx.2		NaN																	0					0						c.(607-609)ACA>AAA		phosphoinositide-binding protein PIP3-E isoform							112.0	109.0	110.0					6																	154521101		2203	4300	6503	SO:0001583	missense	26034				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity	g.chr6:154521101G>T	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.608C>A	6.37:g.154521101G>T	ENSP00000265198:p.Thr203Lys					OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Missense_Mutation_p.T74K|IPCEF1_uc003qpw.2_Missense_Mutation_p.T204K|IPCEF1_uc010kjh.2_Missense_Mutation_p.T204K	p.T203K	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN			10	764	-			203			Ser-rich.		A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.608C>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	G	2.299	-0.360644	0.05103	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.14144	2.54;2.53;2.53;2.54	5.88	0.47	0.16747	.	0.656569	0.16754	N	0.200911	T	0.01940	0.0061	L	0.45581	1.43	0.09310	N	1	B;B;B	0.28783	0.222;0.169;0.169	B;B;B	0.27380	0.036;0.079;0.079	T	0.45483	-0.9258	10	0.05620	T	0.96	-13.9444	1.2387	0.01958	0.2655:0.1475:0.4354:0.1516	.	203;204;175	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	K	203;204;204;175	ENSP00000265198:T203K;ENSP00000394751:T204K;ENSP00000356189:T204K;ENSP00000430287:T175K	ENSP00000265198:T203K	T	-	2	0	IPCEF1	154562793	0.011000	0.17503	0.000000	0.03702	0.310000	0.27922	1.854000	0.39368	0.046000	0.15833	0.655000	0.94253	ACA		0.433	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2		NM_001130699		8	91	1	0	0.00621372	0.006214	0.00631699	8	91		
FNDC1	84624	broad.mit.edu	37	6	159653694	159653694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:159653694C>G	ENST00000297267.9	+	11	2350	c.2150C>G	c.(2149-2151)tCa>tGa	p.S717*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.S654*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	717	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCACCCTCAAGACTTTCT	0.657																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2149-2151)TCA>TGA		fibronectin type III domain containing 1							22.0	26.0	24.0					6																	159653694		1976	4136	6112	SO:0001587	stop_gained	84624					extracellular region		g.chr6:159653694C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2150C>G	6.37:g.159653694C>G	ENSP00000297267:p.Ser717*					FNDC1_uc010kjw.1_Nonsense_Mutation_p.S602*	p.S717*	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2350	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	717			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	ENST00000297267.9	37	c.2150C>G	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	38	6.805684	0.97853	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	.	.	.	4.87	3.07	0.35406	.	1.899140	0.02526	N	0.093045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	2.7528	7.9632	0.30083	0.0:0.7507:0.1604:0.0889	.	.	.	.	X	717;654	.	ENSP00000297267:S717X	S	+	2	0	FNDC1	159573684	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.167000	0.16602	0.449000	0.26747	0.655000	0.94253	TCA		0.657	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		7	16	0	0	0	0.02938	0	7	16		
ZNF12	7559	broad.mit.edu	37	7	6730643	6730643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730643G>A	ENST00000405858.1	-	5	2471	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.R570W|ZNF12_ENST00000342651.5_Missense_Mutation_p.R606W|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	644					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATGACATCCGAGAGAAGGCT	0.393																																						uc003sqt.1		NaN																	0					0						c.(1930-1932)CGG>TGG		zinc finger protein 12 isoform a							89.0	95.0	93.0					7																	6730643		2197	4299	6496	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730643G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1930C>T	7.37:g.6730643G>A	ENSP00000385939:p.Arg644Trp					ZNF12_uc011jxa.1_Missense_Mutation_p.R482W|ZNF12_uc003sqs.1_Missense_Mutation_p.R606W	p.R644W	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2484	-		Ovarian(82;0.0776)	644			C2H2-type 14.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1930C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911772	0.52439	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.19806	2.12;2.12;2.12	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36893	N	0.002346	T	0.33731	0.0873	L	0.43598	1.365	0.30170	N	0.801338	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.04840	-1.0923	10	0.38643	T	0.18	.	9.6549	0.39919	0.0:0.0:0.7923:0.2077	.	644;606	P17014;P17014-5	ZNF12_HUMAN;.	W	570;644;606;702	ENSP00000384405:R570W;ENSP00000385939:R644W;ENSP00000344745:R606W	ENSP00000344745:R606W	R	-	1	2	ZNF12	6697168	0.000000	0.05858	0.999000	0.59377	0.914000	0.54420	-0.447000	0.06828	2.624000	0.88883	0.655000	0.94253	CGG		0.393	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		46	95	0	0	0	0.01441	0	46	95		
ZNF12	7559	broad.mit.edu	37	7	6730858	6730858	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730858G>A	ENST00000405858.1	-	5	2256	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.S498L|ZNF12_ENST00000342651.5_Missense_Mutation_p.S534L|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	572					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTTCTCTCCTGAATGAATTCT	0.413																																						uc003sqt.1		NaN																	0					0						c.(1714-1716)TCA>TTA		zinc finger protein 12 isoform a							49.0	53.0	51.0					7																	6730858		2181	4293	6474	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730858G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1715C>T	7.37:g.6730858G>A	ENSP00000385939:p.Ser572Leu					ZNF12_uc011jxa.1_Missense_Mutation_p.S410L|ZNF12_uc003sqs.1_Missense_Mutation_p.S534L	p.S572L	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2269	-		Ovarian(82;0.0776)	572					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1715C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483942	0.84854	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.18960	2.18;2.18;2.18	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31847	N	0.006961	T	0.25901	0.0631	L	0.34521	1.04	0.44123	D	0.996906	P;P	0.50943	0.94;0.649	P;B	0.51487	0.671;0.228	T	0.02539	-1.1144	10	0.87932	D	0	.	14.4017	0.67050	0.0:0.0:1.0:0.0	.	572;534	P17014;P17014-5	ZNF12_HUMAN;.	L	498;572;534;630	ENSP00000384405:S498L;ENSP00000385939:S572L;ENSP00000344745:S534L	ENSP00000344745:S534L	S	-	2	0	ZNF12	6697383	0.978000	0.34361	0.997000	0.53966	0.998000	0.95712	3.822000	0.55708	2.521000	0.84997	0.655000	0.94253	TCA		0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		16	65	0	0	0	0.012319	0	16	65		
ZNF12	7559	broad.mit.edu	37	7	6730881	6730881	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730881G>C	ENST00000405858.1	-	5	2233	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Silent_p.L490L|ZNF12_ENST00000342651.5_Silent_p.L526L|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	564					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GATGTATAGTGAGGTATGACA	0.408																																						uc003sqt.1		NaN																	0					0						c.(1690-1692)CTC>CTG		zinc finger protein 12 isoform a							46.0	50.0	49.0					7																	6730881		2157	4285	6442	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730881G>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1692C>G	7.37:g.6730881G>C						ZNF12_uc011jxa.1_Silent_p.L402L|ZNF12_uc003sqs.1_Silent_p.L526L	p.L564L	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2246	-		Ovarian(82;0.0776)	564			C2H2-type 11.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.1692C>G	CCDS47538.1																																																																																				0.408	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2		NM_016265		15	58	0	0	0	0.008871	0	15	58		
DGKB	1607	broad.mit.edu	37	7	14724975	14724975	+	Missense_Mutation	SNP	C	C	T	rs184790928		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:14724975C>T	ENST00000403951.2	-	10	1143	c.724G>A	c.(724-726)Gat>Aat	p.D242N	DGKB_ENST00000258767.5_Missense_Mutation_p.D242N|DGKB_ENST00000399322.3_Missense_Mutation_p.D242N|DGKB_ENST00000407950.1_Missense_Mutation_p.D235N|DGKB_ENST00000444700.2_Missense_Mutation_p.D235N|DGKB_ENST00000406247.3_Missense_Mutation_p.D242N|DGKB_ENST00000402815.1_Missense_Mutation_p.D242N|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	242					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGCTGTCCATCATCCTTCACG	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20744	0.0		0.0	False		,,,				2504	0.0					uc003ssz.2		NaN																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(724-726)GAT>AAT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						94.0	94.0	94.0					7																	14724975		2197	4291	6488	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14724975C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.724G>A	7.37:g.14724975C>T	ENSP00000385780:p.Asp242Asn					DGKB_uc011jxt.1_Missense_Mutation_p.D235N|DGKB_uc003sta.2_Missense_Mutation_p.D242N|DGKB_uc011jxu.1_Missense_Mutation_p.D242N|DGKB_uc011jxv.1_Missense_Mutation_p.D242N	p.D242N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			9	911	-			242					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.724G>A	CCDS47547.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.472081	0.96274	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;0.981;1.0	D;P;P;D	0.97110	1.0;0.86;0.86;0.998	D	0.90036	0.4138	10	0.36615	T	0.2	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	242;235;242;242	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	N	242;242;242;242;235;235;242	ENSP00000385780:D242N;ENSP00000382260:D242N;ENSP00000258767:D242N;ENSP00000384909:D242N;ENSP00000385031:D235N;ENSP00000388451:D235N;ENSP00000386066:D242N	ENSP00000258767:D242N	D	-	1	0	DGKB	14691500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAT		0.463	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2		NM_004080		19	72	0	0	0	0.021523	0	19	72		
DNAH11	8701	broad.mit.edu	37	7	21723453	21723453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:21723453G>T	ENST00000409508.3	+	32	5543	c.5512G>T	c.(5512-5514)Gag>Tag	p.E1838*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E1845*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1845	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCACCGATGGGAGGATACCCA	0.458									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5533-5535)GAG>TAG		dynein, axonemal, heavy chain 11							299.0	276.0	283.0					7																	21723453		1914	4118	6032	SO:0001587	stop_gained	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723453G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5512G>T	7.37:g.21723453G>T	ENSP00000475939:p.Glu1838*						p.E1845*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5564	+			1845			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.5533G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.148593	0.99723	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.93	5.93	0.95920	.	0.401569	0.28360	N	0.015625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.9467	0.97184	0.0:0.0:1.0:0.0	.	.	.	.	X	1845	.	ENSP00000330671:E1845X	E	+	1	0	DNAH11	21689978	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.855000	0.39378	2.814000	0.96858	0.563000	0.77884	GAG		0.458	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		50	279	1	0	3.28156e-27	0.01441	3.76353e-27	50	279		
STK31	56164	broad.mit.edu	37	7	23802426	23802426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:23802426G>A	ENST00000355870.3	+	11	1419	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	STK31_ENST00000433467.2_Missense_Mutation_p.G434R|STK31_ENST00000428484.1_Missense_Mutation_p.G411R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.G411R	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	434						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAGAGTGAAGGGAATATTTT	0.333																																						uc003sws.3		NaN																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1300-1302)GGG>AGG		serine/threonine kinase 31 isoform a							100.0	100.0	100.0					7																	23802426		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23802426G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1300G>A	7.37:g.23802426G>A	ENSP00000348132:p.Gly434Arg					STK31_uc003swt.3_Missense_Mutation_p.G411R|STK31_uc011jze.1_Missense_Mutation_p.G434R|STK31_uc010kuq.2_Missense_Mutation_p.G411R	p.G434R	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			11	1367	+			434					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1300G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298085	0.40694	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.24	4.35	0.52113	.	0.227351	0.37437	N	0.002084	T	0.14570	0.0352	L	0.50333	1.59	0.29911	N	0.823545	B;B	0.29612	0.251;0.251	B;B	0.24701	0.055;0.055	T	0.05402	-1.0887	10	0.59425	D	0.04	-10.6956	13.6275	0.62173	0.0:0.2968:0.7031:0.0	.	434;434	B4DZ06;Q9BXU1	.;STK31_HUMAN	R	434;434;411;411	ENSP00000348132:G434R;ENSP00000411852:G434R;ENSP00000346660:G411R;ENSP00000406146:G411R	ENSP00000346660:G411R	G	+	1	0	STK31	23768951	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	2.150000	0.42254	1.327000	0.45338	-0.283000	0.09986	GGG		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414		37	66	0	0	0	0.027894	0	37	66		
ADCYAP1R1	117	broad.mit.edu	37	7	31132288	31132288	+	Missense_Mutation	SNP	G	G	T	rs376664570		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:31132288G>T	ENST00000304166.4	+	13	1274	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V329F|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V308F|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V329F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	329					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGCATTATCGTCATCCTTGT	0.428																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1		NaN																	0				ovary(1)	1						c.(985-987)GTC>TTC		adenylate cyclase activating polypeptide 1							107.0	99.0	102.0					7																	31132288		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31132288G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.985G>T	7.37:g.31132288G>T	ENSP00000306620:p.Val329Phe					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V308F|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.V31F	p.V329F	NM_001118	NP_001109	P41586	PACR_HUMAN			13	1208	+			329			Helical; Name=5; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.985G>T	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.28|13.28	2.189244|2.189244	0.38707|0.38707	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000436116|ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	.|T;T;T;T	.|0.39592	.|1.09;1.07;1.33;1.33	5.72|5.72	-0.828|-0.828	0.10799|0.10799	.|GPCR, family 2-like (1);	.|0.402640	.|0.26574	.|N	.|0.023613	T|T	0.19685|0.19685	0.0473|0.0473	N|N	0.12182|0.12182	0.205|0.205	0.39305|0.39305	D|D	0.964977|0.964977	.|B;B;B;B;B	.|0.09022	.|0.002;0.002;0.002;0.002;0.0	.|B;B;B;B;B	.|0.18871	.|0.015;0.009;0.023;0.016;0.009	T|T	0.03095|0.03095	-1.1073|-1.1073	5|10	.|0.72032	.|D	.|0.01	.|.	3.927|3.927	0.09269|0.09269	0.4045:0.0:0.3352:0.2603|0.4045:0.0:0.3352:0.2603	.|.	.|329;329;329;308;329	.|B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.|.;.;.;.;PACR_HUMAN	L|F	45|329;100;308;329;329	.|ENSP00000306620:V329F;ENSP00000387335:V308F;ENSP00000379514:V329F;ENSP00000386395:V329F	.|ENSP00000306620:V329F	R|V	+|+	2|1	0|0	ADCYAP1R1|ADCYAP1R1	31098813|31098813	0.302000|0.302000	0.24454|0.24454	0.938000|0.938000	0.37757|0.37757	0.943000|0.943000	0.58893|0.58893	0.056000|0.056000	0.14256|0.14256	-0.113000|-0.113000	0.11958|0.11958	-0.311000|-0.311000	0.09066|0.09066	CGT|GTC		0.428	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3		NM_001118		15	73	1	0	4.7546e-09	0.028581	5.20878e-09	15	73		
OGDH	4967	broad.mit.edu	37	7	44734097	44734097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:44734097C>T	ENST00000222673.5	+	12	1632	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	OGDH_ENST00000444676.1_Silent_p.I545I|OGDH_ENST00000449767.1_Silent_p.I526I|OGDH_ENST00000439616.2_Silent_p.I380I|OGDH_ENST00000543843.1_Silent_p.I481I|OGDH_ENST00000447398.1_Silent_p.I541I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	530					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACAAGCAGATCCGCAAGCAGA	0.572																																						uc003tln.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1588-1590)ATC>ATT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						128.0	108.0	115.0					7																	44734097		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44734097C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1590C>T	7.37:g.44734097C>T						OGDH_uc011kbx.1_Silent_p.I526I|OGDH_uc011kby.1_Silent_p.I380I|OGDH_uc003tlp.2_Silent_p.I541I|OGDH_uc011kbz.1_Silent_p.I325I|OGDH_uc003tlo.1_Silent_p.I363I	p.I530I	NM_002541	NP_002532	Q02218	ODO1_HUMAN			12	1699	+			530					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1590C>T	CCDS34627.1																																																																																				0.572	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				25	61	0	0	0	0.037714	0	25	61		
HUS1	3364	broad.mit.edu	37	7	48004979	48004979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:48004979G>A	ENST00000258774.5	-	8	840	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q252*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	273					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATGAAATACTGAAGGGACACG	0.483								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	uc003tod.1		NaN																	0				ovary(2)|lung(2)|kidney(1)	5						c.(817-819)CAG>TAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	HUS1 checkpoint protein							188.0	145.0	159.0					7																	48004979		2203	4300	6503	SO:0001587	stop_gained	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48004979G>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.817C>T	7.37:g.48004979G>A	ENSP00000258774:p.Gln273*					HUS1_uc003toe.1_Nonsense_Mutation_p.Q273*|HUS1_uc011kce.1_RNA	p.Q273*	NM_004507	NP_004498	O60921	HUS1_HUMAN			8	947	-		Breast(660;0.00139)	273					B4DFI9	Nonsense_Mutation	SNP	ENST00000258774.5	37	c.817C>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161551	0.94727	.	.	ENSG00000136273	ENST00000258774;ENST00000432325	.	.	.	5.15	5.15	0.70609	.	0.117765	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-12.2772	16.4761	0.84132	0.0:0.0:1.0:0.0	.	.	.	.	X	273;252	.	ENSP00000258774:Q273X	Q	-	1	0	HUS1	47971504	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	7.528000	0.81941	2.553000	0.86117	0.655000	0.94253	CAG		0.483	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1		NM_004507		33	115	0	0	0	0.025465	0	33	115		
CCT6A	908	broad.mit.edu	37	7	56126340	56126340	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56126340C>G	ENST00000275603.4	+	8	1132	c.913C>G	c.(913-915)Ctt>Gtt	p.L305V	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.L274V|CCT6A_ENST00000335503.3_Missense_Mutation_p.L260V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	305					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTAGATGCTCTTTCAAAAGA	0.343																																						uc003trl.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(913-915)CTT>GTT		chaperonin containing TCP1, subunit 6A isoform							58.0	60.0	59.0					7																	56126340		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56126340C>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.913C>G	7.37:g.56126340C>G	ENSP00000275603:p.Leu305Val					PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.L260V|CCT6A_uc011kcu.1_Missense_Mutation_p.L274V|SNORA15_uc003trn.1_5'Flank	p.L305V	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1077	+	Breast(14;0.214)		305					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.913C>G	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147595	0.77888	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	D;D;D	0.88046	-2.33;-2.33;-2.33	5.52	4.64	0.57946	.	0.112746	0.64402	D	0.000008	D	0.95191	0.8441	H	0.98577	4.27	0.80722	D	1	D;D;D	0.60575	0.977;0.971;0.988	P;P;P	0.58577	0.824;0.841;0.824	D	0.96269	0.9197	10	0.87932	D	0	-4.7047	12.9333	0.58299	0.0:0.921:0.0:0.079	.	274;260;305	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	V	305;260;274;163	ENSP00000275603:L305V;ENSP00000352019:L260V;ENSP00000438488:L274V	ENSP00000275603:L305V	L	+	1	0	CCT6A	56093834	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	5.409000	0.66374	1.318000	0.45170	0.491000	0.48974	CTT		0.343	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2		NM_001762		14	45	0	0	0	0.0333	0	14	45		
CROT	54677	broad.mit.edu	37	7	87020948	87020948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87020948C>T	ENST00000331536.3	+	14	1530	c.1345C>T	c.(1345-1347)Cat>Tat	p.H449Y	CROT_ENST00000442291.1_Missense_Mutation_p.H449Y|CROT_ENST00000419147.2_Missense_Mutation_p.H477Y	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	449					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACATTTTTATCATGGCCGTAC	0.388																																						uc003uit.2		NaN																	0				ovary(2)|lung(1)	3						c.(1345-1347)CAT>TAT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						121.0	113.0	116.0					7																	87020948		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87020948C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1345C>T	7.37:g.87020948C>T	ENSP00000331981:p.His449Tyr					CROT_uc003uiu.2_Missense_Mutation_p.H477Y	p.H449Y	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			14	1590	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		449					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1345C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122723	0.94429	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89875	-2.58;-2.58;-2.58	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95690	0.8739	10	0.66056	D	0.02	-25.3052	19.6609	0.95871	0.0:1.0:0.0:0.0	.	477;449	E7EQF2;Q9UKG9	.;OCTC_HUMAN	Y	477;449;449	ENSP00000413575:H477Y;ENSP00000331981:H449Y;ENSP00000411983:H449Y	ENSP00000331981:H449Y	H	+	1	0	CROT	86858884	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.386000	0.79775	2.736000	0.93811	0.655000	0.94253	CAT		0.388	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1		NM_021151		23	46	0	0	0	0.037714	0	23	46		
DBF4	10926	broad.mit.edu	37	7	87529553	87529553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87529553A>G	ENST00000265728.1	+	9	1202	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	233					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGGCCATTTTATCTTCAGCTG	0.299																																						uc003ujf.1		NaN																	0				lung(2)	2						c.(697-699)TAT>TGT		activator of S phase kinase							55.0	62.0	59.0					7																	87529553		2192	4295	6487	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87529553A>G	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.698A>G	7.37:g.87529553A>G	ENSP00000265728:p.Tyr233Cys					DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Missense_Mutation_p.Y9C|DBF4_uc011khf.1_Intron	p.Y233C	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			9	1202	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	233					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.698A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.786703	0.70337	.	.	ENSG00000006634	ENST00000265728	T	0.11930	2.73	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.71036	2.16	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	T	0.12477	-1.0546	10	0.87932	D	0	-14.1308	14.4502	0.67379	1.0:0.0:0.0:0.0	.	233	Q9UBU7	DBF4A_HUMAN	C	233	ENSP00000265728:Y233C	ENSP00000265728:Y233C	Y	+	2	0	DBF4	87367489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.953000	0.70290	2.205000	0.71048	0.477000	0.44152	TAT		0.299	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1		NM_006716		9	66	0	0	0	0.008291	0	9	66		
MTERF1	7978	broad.mit.edu	37	7	91503486	91503486	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:91503486G>C	ENST00000351870.3	-	3	715	c.622C>G	c.(622-624)Ctt>Gtt	p.L208V	MTERF_ENST00000406735.2_Missense_Mutation_p.L188V|MTERF_ENST00000419292.1_Missense_Mutation_p.L188V|MTERF_ENST00000481516.1_5'Flank	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		208					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTCAGATCAAGACTATTGGAG	0.383																																						uc003ulb.1		NaN																	0					0						c.(622-624)CTT>GTT		mitochondrial transcription termination factor							62.0	62.0	62.0					7																	91503486		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503486G>C																												ENST00000351870.3:c.622C>G	7.37:g.91503486G>C	ENSP00000248643:p.Leu208Val					MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.L208V|MTERF_uc011khm.1_Missense_Mutation_p.L188V|MTERF_uc010leu.1_Missense_Mutation_p.L188V	p.L208V	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	666	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		208					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.622C>G	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482603	0.04383	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.17854	2.27;2.25;2.27	4.88	4.88	0.63580	.	0.093582	0.43919	D	0.000503	T	0.12817	0.0311	L	0.50333	1.59	0.27241	N	0.959142	B	0.33883	0.43	B	0.28232	0.087	T	0.15292	-1.0442	10	0.12430	T	0.62	-10.4055	9.1896	0.37191	0.0:0.1563:0.6826:0.161	.	208	Q99551	MTERF_HUMAN	V	188;208;188	ENSP00000414116:L188V;ENSP00000248643:L208V;ENSP00000384986:L188V	ENSP00000248643:L208V	L	-	1	0	MTERF	91341422	0.717000	0.27966	0.994000	0.49952	0.916000	0.54674	0.205000	0.17356	2.649000	0.89929	0.585000	0.79938	CTT		0.383	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1				12	66	0	0	0	0.013537	0	12	66		
COL1A2	1278	broad.mit.edu	37	7	94053674	94053674	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:94053674G>A	ENST00000297268.6	+	41	3063	c.2592G>A	c.(2590-2592)caG>caA	p.Q864Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	864					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)	CAGGTCCTCAGGGTCTTCTTG	0.498										HNSCC(75;0.22)																												uc003ung.1		NaN																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2590-2592)CAG>CAA		alpha 2 type I collagen precursor	Collagenase(DB00048)						153.0	141.0	145.0					7																	94053674		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:94053674G>A	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.2592G>A	7.37:g.94053674G>A		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.Q864Q	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3063	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		864					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2592G>A	CCDS34682.1																																																																																				0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089		10	94	0	0	0	0.020292	0	10	94		
TMEM130	222865	broad.mit.edu	37	7	98449087	98449087	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:98449087G>C	ENST00000416379.2	-	6	967	c.963C>G	c.(961-963)atC>atG	p.I321M	TMEM130_ENST00000339375.4_Missense_Mutation_p.I321M|TMEM130_ENST00000450876.1_Missense_Mutation_p.I237M|TMEM130_ENST00000546258.1_Missense_Mutation_p.I302M|TMEM130_ENST00000345589.4_Missense_Mutation_p.I219M			Q8N3G9	TM130_HUMAN	transmembrane protein 130	321						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCTTGCTGATGATATTCT	0.582																																						uc003upo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(961-963)ATC>ATG		transmembrane protein 130 isoform a							199.0	145.0	163.0					7																	98449087		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98449087G>C		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.963C>G	7.37:g.98449087G>C	ENSP00000413163:p.Ile321Met					TMEM130_uc011kiq.1_Missense_Mutation_p.I302M|TMEM130_uc011kir.1_Missense_Mutation_p.I321M|TMEM130_uc003upn.2_Missense_Mutation_p.I219M	p.I321M	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1152	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		321			Extracellular (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.963C>G	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206587	0.58343	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.16	5.16	0.70880	PKD domain (1);	0.225697	0.37136	N	0.002227	T	0.25232	0.0613	L	0.54323	1.7	0.42146	D	0.991535	P;P;P;P	0.44195	0.828;0.571;0.828;0.571	P;B;P;P	0.45856	0.495;0.373;0.495;0.495	T	0.01725	-1.1287	10	0.66056	D	0.02	-42.7837	16.15	0.81611	0.0:0.0:1.0:0.0	.	321;302;321;219	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	M	321;321;237;219;302	ENSP00000413163:I321M;ENSP00000341256:I321M;ENSP00000390200:I237M;ENSP00000330262:I219M;ENSP00000445869:I302M	ENSP00000341256:I321M	I	-	3	3	TMEM130	98287023	1.000000	0.71417	0.991000	0.47740	0.396000	0.30629	2.157000	0.42320	2.410000	0.81850	0.561000	0.74099	ATC		0.582	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1		NM_152913		11	106	0	0	0	0.016723	0	11	106		
ZKSCAN5	23660	broad.mit.edu	37	7	99123756	99123756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:99123756C>T	ENST00000394170.2	+	6	1344	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R365W|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R365W	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TATTCAGCATCGGCGCATCCA	0.537																																						uc003uqv.2		NaN																	0				ovary(1)	1						c.(1093-1095)CGG>TGG		zinc finger with KRAB and SCAN domains 5							73.0	68.0	70.0					7																	99123756		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123756C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1093C>T	7.37:g.99123756C>T	ENSP00000377725:p.Arg365Trp					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.R292W|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.R101W	p.R365W	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			6	1217	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		365			C2H2-type 1.		A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1093C>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737738	0.69304	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.18810	2.19;2.19;2.19	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.275741	0.26324	N	0.025036	T	0.48750	0.1517	M	0.76838	2.35	0.35256	D	0.779106	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.60616	-0.7228	10	0.56958	D	0.05	.	16.7316	0.85436	0.0:1.0:0.0:0.0	.	365;365	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	W	365	ENSP00000322872:R365W;ENSP00000392104:R365W;ENSP00000377725:R365W	ENSP00000322872:R365W	R	+	1	2	ZKSCAN5	98961692	0.611000	0.26992	1.000000	0.80357	0.998000	0.95712	1.142000	0.31540	2.638000	0.89438	0.655000	0.94253	CGG		0.537	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1		NM_014569		14	82	0	0	0	0.020292	0	14	82		
VGF	7425	broad.mit.edu	37	7	100806828	100806828	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:100806828C>T	ENST00000249330.2	-	2	1536	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	VGF_ENST00000445482.2_Missense_Mutation_p.E433K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	433	Asp/Glu-rich (acidic).				defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					tctgtcccctcggcctccttc	0.687																																						uc003uxx.3		NaN																	0					0						c.(1297-1299)GAG>AAG		VGF nerve growth factor inducible precursor							28.0	32.0	31.0					7																	100806828		2202	4300	6502	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100806828C>T	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1297G>A	7.37:g.100806828C>T	ENSP00000249330:p.Glu433Lys						p.E433K	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1515	-	Lung NSC(181;0.168)|all_lung(186;0.215)		433			Asp/Glu-rich (acidic).		Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.1297G>A	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248399	0.10130	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	T	0.16685	0.0401	N	0.14661	0.345	0.27687	N	0.946243	P	0.34546	0.456	B	0.27500	0.08	T	0.11372	-1.0590	8	0.10111	T	0.7	-4.2723	8.6648	0.34114	0.0:0.8875:0.0:0.1125	.	433	O15240	VGF_HUMAN	K	433	.	ENSP00000249330:E433K	E	-	1	0	VGF	100593548	0.732000	0.28121	0.881000	0.34555	0.321000	0.28281	1.191000	0.32138	1.048000	0.40298	-0.263000	0.10527	GAG		0.687	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1		NM_003378		9	9	0	0	0	0.004482	0	9	9		
PTPRZ1	5803	broad.mit.edu	37	7	121650934	121650934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:121650934G>A	ENST00000393386.2	+	12	2245	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E612K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	612					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTTCCTCCGAAAACCCAGA	0.418																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1834-1836)GAA>AAA		protein tyrosine phosphatase, receptor-type,							47.0	49.0	48.0					7																	121650934		2202	4299	6501	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650934G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1834G>A	7.37:g.121650934G>A	ENSP00000377047:p.Glu612Lys					PTPRZ1_uc003vjz.2_Missense_Mutation_p.E612K|PTPRZ1_uc011knt.1_Missense_Mutation_p.E62K	p.E612K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2229	+			612			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1834G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907153	0.33628	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.47869	0.93;0.83	5.14	5.14	0.70334	.	0.233240	0.37348	N	0.002132	T	0.40546	0.1121	L	0.56769	1.78	0.28853	N	0.895968	B;B;P	0.45078	0.272;0.327;0.85	B;B;B	0.31191	0.039;0.026;0.125	T	0.48328	-0.9045	10	0.22109	T	0.4	.	18.947	0.92626	0.0:0.0:1.0:0.0	.	612;612;612	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	K	612	ENSP00000377047:E612K;ENSP00000410000:E612K	ENSP00000377047:E612K	E	+	1	0	PTPRZ1	121438170	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.237000	0.58681	2.561000	0.86390	0.655000	0.94253	GAA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		12	33	0	0	0	0.024245	0	12	33		
PLXNA4	91584	broad.mit.edu	37	7	131866328	131866328	+	Missense_Mutation	SNP	C	C	T	rs200118897		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:131866328C>T	ENST00000359827.3	-	18	4266	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1102T			Q9HCM2	PLXA4_HUMAN	plexin A4	1102	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGACCCAGAGCGAGGGCGGGC	0.577																																						uc003vra.3		NaN																	0				ovary(1)	1						c.(3304-3306)GCT>ACT		plexin A4 isoform 1		C	THR/ALA	5,3839		0,5,1917	66.0	70.0	69.0		3304	2.4	1.0	7		69	0,8234		0,0,4117	yes	missense	PLXNA4	NM_020911.1	58	0,5,6034	TT,TC,CC		0.0,0.1301,0.0414	benign	1102/1895	131866328	5,12073	1922	4117	6039	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866328C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3304G>A	7.37:g.131866328C>T	ENSP00000352882:p.Ala1102Thr						p.A1102T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3533	-			1102			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3304G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035933	0.19590	0.001301	0.0	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.59772	0.24;0.24	5.25	2.37	0.29283	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.222821	0.46758	N	0.000261	T	0.28034	0.0691	N	0.04297	-0.235	0.48395	D	0.999641	B	0.23316	0.083	B	0.12156	0.007	T	0.05886	-1.0858	10	0.10111	T	0.7	.	9.1366	0.36877	0.0:0.7556:0.0:0.2444	.	1102	Q9HCM2	PLXA4_HUMAN	T	1102	ENSP00000323194:A1102T;ENSP00000352882:A1102T	ENSP00000323194:A1102T	A	-	1	0	PLXNA4	131516868	0.014000	0.17966	0.968000	0.41197	0.639000	0.38242	0.137000	0.15995	0.190000	0.20209	0.561000	0.74099	GCT		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		21	36	0	0	0	0.014323	0	21	36		
DGKI	9162	broad.mit.edu	37	7	137150661	137150661	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:137150661C>T	ENST00000288490.5	-	27	2629	c.2629G>A	c.(2629-2631)Gcc>Acc	p.A877T	DGKI_ENST00000424189.2_Missense_Mutation_p.A890T|DGKI_ENST00000446122.1_Missense_Mutation_p.A859T|DGKI_ENST00000453654.2_Missense_Mutation_p.A587T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	877					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACCCCGAGGCTTGTTCCACC	0.542																																						uc003vtt.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2629-2631)GCC>ACC		diacylglycerol kinase, iota							64.0	62.0	63.0					7																	137150661		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137150661C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2629G>A	7.37:g.137150661C>T	ENSP00000288490:p.Ala877Thr					DGKI_uc003vtu.2_Missense_Mutation_p.A587T	p.A877T	NM_004717	NP_004708	O75912	DGKI_HUMAN			27	2630	-			877					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2629G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445139	0.43429	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34072	1.91;1.38;1.58	5.82	5.82	0.92795	.	0.210753	0.39909	N	0.001235	T	0.28532	0.0706	L	0.29908	0.895	0.43246	D	0.995161	B;B	0.17268	0.014;0.021	B;B	0.15484	0.003;0.013	T	0.04005	-1.0985	10	0.24483	T	0.36	.	15.5618	0.76256	0.0:0.8628:0.1372:0.0	.	587;877	E9PFX6;O75912	.;DGKI_HUMAN	T	587;835;880;877;859	ENSP00000392161:A587T;ENSP00000288490:A877T;ENSP00000399131:A859T	ENSP00000288490:A877T	A	-	1	0	DGKI	136801201	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.308000	0.43690	2.767000	0.95098	0.655000	0.94253	GCC		0.542	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3		NM_004717		10	59	0	0	0	0.013537	0	10	59		
FAM115C	285966	broad.mit.edu	37	7	143417071	143417071	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:143417071C>G	ENST00000441159.2	+	3	985	c.919C>G	c.(919-921)Cta>Gta	p.L307V	FAM115C_ENST00000444908.2_Missense_Mutation_p.L307V|FAM115C_ENST00000409703.3_Missense_Mutation_p.L143V|FAM115C_ENST00000425618.2_Missense_Mutation_p.L26V|FAM115C_ENST00000411935.1_Missense_Mutation_p.L143V|FAM115C_ENST00000411497.2_Missense_Mutation_p.L26V|FAM115C_ENST00000357344.4_Missense_Mutation_p.L307V			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	307					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GAACACAAATCTAAAAGATCT	0.572																																						uc003wdf.2		NaN																	0					0						c.(919-921)CTA>GTA		hypothetical protein LOC285966 isoform A							1.0	1.0	1.0					7																	143417071		90	220	310	SO:0001583	missense	285966							g.chr7:143417071C>G	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.919C>G	7.37:g.143417071C>G	ENSP00000404265:p.Leu307Val					FAM115C_uc003wdg.2_Missense_Mutation_p.L26V|FAM115C_uc011ktk.1_Missense_Mutation_p.L307V|FAM115C_uc003wdh.2_Missense_Mutation_p.L307V|FAM115C_uc011ktm.1_Missense_Mutation_p.L307V|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.L143V|FAM115C_uc003wdi.1_Missense_Mutation_p.L26V	p.L307V	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			3	1002	+			307					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37	c.919C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.12|11.12	1.545956|1.545956	0.27652|0.27652	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618|ENST00000518791	T;T;T;T;T|.	0.37235|.	1.21;1.21;1.21;1.21;1.21|.	3.43|3.43	1.52|1.52	0.23074|0.23074	.|.	0.131354|.	0.51477|.	D|.	0.000081|.	T|T	0.47948|0.47948	0.1473|0.1473	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	1|1	D;P;P;P|.	0.71674|.	0.998;0.697;0.666;0.917|.	D;B;B;P|.	0.69142|.	0.962;0.275;0.376;0.584|.	T|T	0.44112|0.44112	-0.9349|-0.9349	10|5	0.36615|.	T|.	0.2|.	-8.9277|-8.9277	3.449|3.449	0.07491|0.07491	0.2025:0.5661:0.0:0.2314|0.2025:0.5661:0.0:0.2314	.|.	143;307;26;307|.	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2|.	.;F115C_HUMAN;.;.|.	V|C	307;26;307;307;143;143;26|121	ENSP00000412724:L307V;ENSP00000349902:L307V;ENSP00000404265:L307V;ENSP00000389100:L143V;ENSP00000386405:L143V|.	ENSP00000349902:L307V|.	L|S	+|+	1|2	2|0	FAM115C|FAM115C	143048004|143048004	0.358000|0.358000	0.24947|0.24947	0.001000|0.001000	0.08648|0.08648	0.743000|0.743000	0.42351|0.42351	1.158000|1.158000	0.31737|0.31737	0.208000|0.208000	0.20626|0.20626	0.411000|0.411000	0.27672|0.27672	CTA|TCT		0.572	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1		NM_173678		5	26	0	0	0	0.014758	0	5	26		
ANK1	286	broad.mit.edu	37	8	41554068	41554068	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:41554068A>T	ENST00000347528.4	-	26	2856	c.2773T>A	c.(2773-2775)Tcc>Acc	p.S925T	ANK1_ENST00000396942.1_Missense_Mutation_p.S925T|ANK1_ENST00000379758.2_Missense_Mutation_p.S925T|ANK1_ENST00000265709.8_Missense_Mutation_p.S966T|ANK1_ENST00000396945.1_Missense_Mutation_p.S925T|ANK1_ENST00000289734.7_Missense_Mutation_p.S925T|ANK1_ENST00000352337.4_Missense_Mutation_p.S925T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	925	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTCTCATGGAACCACCCCGG	0.637																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2773-2775)TCC>ACC		ankyrin 1 isoform 1							50.0	45.0	47.0					8																	41554068		2202	4300	6502	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554068A>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2773T>A	8.37:g.41554068A>T	ENSP00000339620:p.Ser925Thr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S241T|ANK1_uc003xoi.2_Missense_Mutation_p.S925T|ANK1_uc003xoj.2_Missense_Mutation_p.S925T|ANK1_uc003xol.2_Missense_Mutation_p.S925T|ANK1_uc003xom.2_Missense_Mutation_p.S966T	p.S925T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2857	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	925			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2773T>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.094552|5.094552	0.94149|0.94149	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.67|5.67	5.67|5.67	0.87782|0.87782	.|ZU5 (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P	.|0.76494	.|0.995;0.999;0.997;0.96;0.995;0.88	.|D;D;D;P;D;P	.|0.80764	.|0.994;0.99;0.951;0.664;0.994;0.855	T|T	0.56226|0.56226	-0.8014|-0.8014	5|10	.|0.56958	.|D	.|0.05	.|.	15.9043|15.9043	0.79412|0.79412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|966;925;925;925;925;241	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Y|T	246|925;925;925;925;925;925;966;925	.|ENSP00000339620:S925T;ENSP00000289734:S925T;ENSP00000369082:S925T;ENSP00000380149:S925T;ENSP00000380147:S925T;ENSP00000309131:S925T;ENSP00000265709:S966T	.|ENSP00000265709:S966T	F|S	-|-	2|1	0|0	ANK1|ANK1	41673225|41673225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.898000|0.898000	0.52572|0.52572	7.428000|7.428000	0.80296|0.80296	2.169000|2.169000	0.68431|0.68431	0.459000|0.459000	0.35465|0.35465	TTC|TCC		0.637	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		14	25	0	0	0	0.020292	0	14	25		
SPIDR	23514	broad.mit.edu	37	8	48309024	48309024	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:48309024C>T	ENST00000297423.4	+	6	998	c.614C>T	c.(613-615)cCt>cTt	p.P205L	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.P145L|SPIDR_ENST00000541342.1_Missense_Mutation_p.P135L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	205	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TCAGAATCCCCTCACAAATAC	0.363																																						uc003xqd.2		NaN																	0					0						c.(613-615)CCT>CTT		hypothetical protein LOC23514							107.0	102.0	103.0					8																	48309024		1878	4111	5989	SO:0001583	missense	23514							g.chr8:48309024C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.614C>T	8.37:g.48309024C>T	ENSP00000297423:p.Pro205Leu					KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.P205L|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P135L|KIAA0146_uc011ldd.1_Missense_Mutation_p.P145L|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	p.P205L	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			6	623	+		Lung NSC(58;0.175)	205					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.614C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830965	0.71258	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	5.69	3.8	0.43715	.	0.304453	0.26704	N	0.022938	T	0.42177	0.1191	L	0.47716	1.5	0.45822	D	0.998696	B;B;P;P	0.36535	0.386;0.386;0.557;0.557	B;B;B;B	0.33620	0.124;0.124;0.167;0.124	T	0.48364	-0.9042	9	0.72032	D	0.01	.	9.1246	0.36807	0.1486:0.7707:0.0:0.0806	.	145;135;205;205	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	L	205;145;135	.	ENSP00000297423:P205L	P	+	2	0	KIAA0146	48471577	0.016000	0.18221	0.997000	0.53966	0.970000	0.65996	0.685000	0.25378	2.684000	0.91462	0.650000	0.86243	CCT		0.363	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		14	87	0	0	0	0.024245	0	14	87		
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:71520314C>G	ENST00000262213.2	-	1	290	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000536748.1_Missense_Mutation_p.E10Q|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NaN																	0				ovary(1)	1						c.(121-123)GAG>CAG		translocation associated membrane protein 1							34.0	33.0	33.0					8																	71520314		2203	4299	6502	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520314C>G	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.121G>C	8.37:g.71520314C>G	ENSP00000262213:p.Glu41Gln					TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q	p.E41Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	291	-			41			Helical; (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.121G>C	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532371	0.45073	.	.	ENSG00000067167	ENST00000262213;ENST00000536748;ENST00000518678	T;T	0.29917	1.55;1.56	5.09	3.16	0.36331	.	0.155079	0.56097	D	0.000026	T	0.18299	0.0439	N	0.24115	0.695	0.58432	D	0.999999	B	0.24368	0.102	B	0.25614	0.062	T	0.05257	-1.0896	10	0.15066	T	0.55	-6.065	9.9138	0.41421	0.0:0.7831:0.139:0.0779	.	41	Q15629	TRAM1_HUMAN	Q	41;10;10	ENSP00000262213:E41Q;ENSP00000439359:E10Q	ENSP00000262213:E41Q	E	-	1	0	TRAM1	71682868	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.214000	0.65236	1.128000	0.42052	0.563000	0.77884	GAG		0.692	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		NM_014294		3	33	0	0	0	0.004672	0	3	33		
ZNF572	137209	broad.mit.edu	37	8	125987911	125987911	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125987911C>T	ENST00000319286.5	+	2	183	c.29C>T	c.(28-30)tCa>tTa	p.S10L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTTGGTCTCAGATTCTAAC	0.388										HNSCC(60;0.17)																												uc003yrr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(28-30)TCA>TTA		zinc finger protein 572							117.0	114.0	115.0					8																	125987911		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125987911C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.29C>T	8.37:g.125987911C>T	ENSP00000319305:p.Ser10Leu	HNSCC(60;0.17)					p.S10L	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		2	184	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		10					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.29C>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	7.451	0.642782	0.14451	.	.	ENSG00000180938	ENST00000319286	T	0.09073	3.02	4.53	4.53	0.55603	.	0.631229	0.13190	N	0.406826	T	0.07369	0.0186	N	0.24115	0.695	0.09310	N	1	B	0.23377	0.084	B	0.23574	0.047	T	0.24154	-1.0168	10	0.35671	T	0.21	.	12.9426	0.58354	0.0:1.0:0.0:0.0	.	10	Q7Z3I7	ZN572_HUMAN	L	10	ENSP00000319305:S10L	ENSP00000319305:S10L	S	+	2	0	ZNF572	126057092	0.000000	0.05858	0.021000	0.16686	0.016000	0.09150	0.295000	0.19065	2.507000	0.84556	0.650000	0.86243	TCA		0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1		NM_152412		16	117	0	0	0	0.014323	0	16	117		
ZNF572	137209	broad.mit.edu	37	8	125988884	125988884	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125988884C>T	ENST00000319286.5	+	3	528	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGCAGAATTCATCCTTTGTA	0.428										HNSCC(60;0.17)																												uc003yrr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(373-375)TCA>TTA		zinc finger protein 572							90.0	93.0	92.0					8																	125988884		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988884C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.374C>T	8.37:g.125988884C>T	ENSP00000319305:p.Ser125Leu	HNSCC(60;0.17)					p.S125L	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	529	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		125					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.374C>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	4.316	0.057959	0.08339	.	.	ENSG00000180938	ENST00000319286	T	0.08720	3.06	4.66	1.9	0.25705	.	1.474110	0.04554	N	0.390398	T	0.05410	0.0143	N	0.10733	0.035	0.09310	N	0.999998	B	0.11235	0.004	B	0.11329	0.006	T	0.37979	-0.9682	10	0.30854	T	0.27	2.2098	7.9678	0.30109	0.0:0.7182:0.0:0.2818	.	125	Q7Z3I7	ZN572_HUMAN	L	125	ENSP00000319305:S125L	ENSP00000319305:S125L	S	+	2	0	ZNF572	126058065	0.000000	0.05858	0.007000	0.13788	0.606000	0.37113	0.373000	0.20484	0.706000	0.31912	0.655000	0.94253	TCA		0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1		NM_152412		14	120	0	0	0	0.020292	0	14	120		
ZNF572	137209	broad.mit.edu	37	8	125989705	125989705	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125989705C>G	ENST00000319286.5	+	3	1349	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGCTCCCATCTCATTAGACA	0.428										HNSCC(60;0.17)																												uc003yrr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1195-1197)CTC>GTC		zinc finger protein 572							88.0	84.0	86.0					8																	125989705		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989705C>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1195C>G	8.37:g.125989705C>G	ENSP00000319305:p.Leu399Val	HNSCC(60;0.17)					p.L399V	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1350	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		399			C2H2-type 9.		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.1195C>G	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368315	0.61513	.	.	ENSG00000180938	ENST00000319286	T	0.52983	0.64	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000470	T	0.71384	0.3333	M	0.84326	2.69	0.29734	N	0.837675	D	0.89917	1.0	D	0.91635	0.999	T	0.71447	-0.4590	10	0.87932	D	0	-9.6235	16.2176	0.82239	0.0:1.0:0.0:0.0	.	399	Q7Z3I7	ZN572_HUMAN	V	399	ENSP00000319305:L399V	ENSP00000319305:L399V	L	+	1	0	ZNF572	126058886	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.589000	0.23939	2.692000	0.91855	0.655000	0.94253	CTC		0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1		NM_152412		15	107	0	0	0	0.008871	0	15	107		
EFR3A	23167	broad.mit.edu	37	8	132991207	132991207	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:132991207G>T	ENST00000254624.5	+	13	1665	c.1440G>T	c.(1438-1440)ttG>ttT	p.L480F	EFR3A_ENST00000334503.4_Missense_Mutation_p.L480F|EFR3A_ENST00000519656.1_Missense_Mutation_p.L444F	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	480						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGTTGGTCTTGGAAGTAATGC	0.418																																						uc003yte.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1438-1440)TTG>TTT		EFR3 homolog A							172.0	154.0	160.0					8																	132991207		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132991207G>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1440G>T	8.37:g.132991207G>T	ENSP00000254624:p.Leu480Phe						p.L480F	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		13	1641	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		480					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1440G>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702333	0.48307	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.68624	3.25;3.25;-0.34	5.71	4.84	0.62591	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.72894	2.215	0.44603	D	0.997575	P	0.35600	0.511	B	0.39027	0.288	T	0.67452	-0.5667	10	0.54805	T	0.06	-10.2768	8.6709	0.34149	0.0753:0.0:0.7743:0.1504	.	480	Q14156	EFR3A_HUMAN	F	480;480;480;444	ENSP00000254624:L480F;ENSP00000334769:L480F;ENSP00000428086:L444F	ENSP00000254624:L480F	L	+	3	2	EFR3A	133060389	0.988000	0.35896	1.000000	0.80357	0.965000	0.64279	0.138000	0.16016	1.443000	0.47586	0.650000	0.86243	TTG		0.418	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1		NM_015137		21	184	1	0	3.65163e-15	0.030593	4.09831e-15	21	184		
PLEC	5339	broad.mit.edu	37	8	144991923	144991923	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:144991923G>T	ENST00000322810.4	-	32	12646	c.12477C>A	c.(12475-12477)ctC>ctA	p.L4159L	PLEC_ENST00000527096.1_Silent_p.L4045L|PLEC_ENST00000357649.2_Silent_p.L4026L|PLEC_ENST00000345136.3_Silent_p.L4022L|PLEC_ENST00000354958.2_Silent_p.L4000L|PLEC_ENST00000354589.3_Silent_p.L4022L|PLEC_ENST00000436759.2_Silent_p.L4049L|PLEC_ENST00000356346.3_Silent_p.L4008L|PLEC_ENST00000398774.2_Silent_p.L3990L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4159	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGAGGGAGATGAGCTTCCCAG	0.632																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12475-12477)CTC>CTA		plectin isoform 1							50.0	57.0	55.0					8																	144991923		2108	4196	6304	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991923G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12477C>A	8.37:g.144991923G>T						PLEC_uc003zab.1_Silent_p.L4022L|PLEC_uc003zac.1_Silent_p.L4026L|PLEC_uc003zad.2_Silent_p.L4022L|PLEC_uc003zae.1_Silent_p.L3990L|PLEC_uc003zag.1_Silent_p.L4000L|PLEC_uc003zah.2_Silent_p.L4008L|PLEC_uc003zaj.2_Silent_p.L4049L	p.L4159L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12647	-			4159			Globular 2.|Plectin 24.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12477C>A	CCDS43772.1																																																																																				0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		12	54	1	0	2.61681e-11	0.020292	2.91021e-11	12	54		
MFSD3	113655	broad.mit.edu	37	8	145736008	145736008	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:145736008G>T	ENST00000301327.4	+	3	1118	c.858G>T	c.(856-858)gtG>gtT	p.V286V	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	286	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGGTCGGTGCTGCGCTTCC	0.617																																						uc003zdi.1		NaN																	0				central_nervous_system(2)	2						c.(856-858)GTG>GTT		major facilitator superfamily domain containing							91.0	100.0	97.0					8																	145736008		2203	4300	6503	SO:0001819	synonymous_variant	113655				transmembrane transport	integral to membrane		g.chr8:145736008G>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.858G>T	8.37:g.145736008G>T							p.V286V	NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1023	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		286			Leu-rich.			Silent	SNP	ENST00000301327.4	37	c.858G>T	CCDS6431.1																																																																																				0.617	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		36	190	1	0	2.68985e-26	0.01441	3.07531e-26	36	190		
DMRT2	10655	broad.mit.edu	37	9	1057268	1057268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:1057268C>T	ENST00000358146.2	+	3	1681	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	DMRT2_ENST00000302441.6_Nonsense_Mutation_p.Q561*|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Nonsense_Mutation_p.Q561*|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	561					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)		TCGTGTCTCTCAGTGAAAGGC	0.383																																						uc003zha.2		NaN																	0					0						c.(1681-1683)CAG>TAG		doublesex and mab-3 related transcription factor							57.0	57.0	57.0					9																	1057268		2203	4299	6502	SO:0001587	stop_gained	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057268C>T	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.1681C>T	9.37:g.1057268C>T	ENSP00000350865:p.Gln561*					DMRT2_uc003zgx.3_Nonsense_Mutation_p.Q328*|DMRT2_uc010mgz.2_Nonsense_Mutation_p.Q328*|DMRT2_uc003zgy.3_Nonsense_Mutation_p.Q405*|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Nonsense_Mutation_p.Q561*	p.Q561*	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1881	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	561					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Nonsense_Mutation	SNP	ENST00000358146.2	37	c.1681C>T	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	37	6.635036	0.97722	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	.	.	.	5.94	5.94	0.96194	.	0.210010	0.42053	D	0.000762	.	.	.	.	.	.	0.31976	N	0.60656	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.9886	16.5003	0.84255	0.0:0.8691:0.1309:0.0	.	.	.	.	X	561	.	ENSP00000305785:Q561X	Q	+	1	0	DMRT2	1047268	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.534000	0.60622	2.812000	0.96745	0.557000	0.71058	CAG		0.383	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1		NM_006557		18	112	0	0	0	0.012319	0	18	112		
GLIS3	169792	broad.mit.edu	37	9	3898796	3898796	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:3898796C>G	ENST00000324333.10	-	6	1751	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	GLIS3_ENST00000381971.3_Missense_Mutation_p.D675H|GLIS3_ENST00000461870.1_5'UTR|GLIS3-AS1_ENST00000451340.2_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	520					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGAGGCAATCTGTGAGCAGG	0.587																																						uc003zhw.1		NaN																	0				ovary(1)	1						c.(1558-1560)GAT>CAT		GLIS family zinc finger 3 isoform b							64.0	65.0	64.0					9																	3898796		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3898796C>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1558G>C	9.37:g.3898796C>G	ENSP00000325494:p.Asp520His					GLIS3_uc003zhx.1_Missense_Mutation_p.D675H|GLIS3_uc010mhf.1_Missense_Mutation_p.D69H|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.D453H|GLIS3_uc003zhz.1_Missense_Mutation_p.D453H|C9orf70_uc003zia.2_RNA	p.D520H	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	6	1752	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	520					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1558G>C	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542442	0.65198	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.48201	0.82;0.82	5.72	4.63	0.57726	.	0.241615	0.27185	N	0.020536	T	0.55609	0.1931	L	0.29908	0.895	0.42468	D	0.992815	D;P;P;P;D	0.76494	0.999;0.835;0.751;0.913;0.99	D;P;P;P;P	0.66351	0.943;0.569;0.708;0.73;0.688	T	0.59904	-0.7366	10	0.87932	D	0	.	15.5981	0.76602	0.0:0.9234:0.0:0.0766	.	115;188;188;675;520	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	H	520;675	ENSP00000325494:D520H;ENSP00000371398:D675H	ENSP00000325494:D520H	D	-	1	0	GLIS3	3888796	0.976000	0.34144	0.733000	0.30861	0.749000	0.42624	3.391000	0.52530	2.695000	0.91970	0.655000	0.94253	GAT		0.587	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		NM_152629		29	55	0	0	0	0.010818	0	29	55		
RIC1	57589	broad.mit.edu	37	9	5746003	5746003	+	Missense_Mutation	SNP	G	G	A	rs199560727		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:5746003G>A	ENST00000414202.2	+	11	1359	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	KIAA1432_ENST00000381532.2_Missense_Mutation_p.D311N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D311N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D311N|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D390N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AATTGAGTCTGACCTCAGGAG	0.408																																						uc003zji.2		NaN																	0					0						c.(931-933)GAC>AAC		connexin 43-interacting protein 150 isoform a							154.0	148.0	150.0					9																	5746003		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5746003G>A																												ENST00000414202.2:c.1168G>A	9.37:g.5746003G>A	ENSP00000416696:p.Asp390Asn					KIAA1432_uc003zjh.2_Missense_Mutation_p.D311N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D311N|KIAA1432_uc003zjj.1_5'UTR	p.D311N	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	10	1024	+		Acute lymphoblastic leukemia(23;0.154)	390						Missense_Mutation	SNP	ENST00000414202.2	37	c.931G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	2.210	-0.380829	0.05000	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	6.17	4.33	0.51752	.	0.652243	0.17000	N	0.190945	T	0.29588	0.0738	L	0.47716	1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.28332	-1.0047	10	0.12766	T	0.61	-11.0486	4.3221	0.11022	0.2503:0.0:0.5879:0.1618	.	311;390;390	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	N	390;390;311;311;311	ENSP00000251879:D390N;ENSP00000416696:D390N;ENSP00000370943:D311N;ENSP00000402240:D311N;ENSP00000398823:D311N	ENSP00000251879:D390N	D	+	1	0	KIAA1432	5736003	0.939000	0.31865	0.534000	0.28014	0.150000	0.21749	1.927000	0.40094	0.920000	0.36970	-0.182000	0.12963	GAC		0.408	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3				21	126	0	0	0	0.024334	0	21	126		
IFNA16	3449	broad.mit.edu	37	9	21216778	21216778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:21216778G>C	ENST00000380216.1	-	1	532	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	176					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAAGGATCT	0.373																																						uc003zor.1		NaN																	0				skin(1)	1						c.(526-528)TCT>TGT		interferon, alpha 16 precursor							221.0	213.0	216.0					9																	21216778		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216778G>C		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.527C>G	9.37:g.21216778G>C	ENSP00000369564:p.Ser176Cys					IFNA14_uc003zoo.1_Intron	p.S176C	NM_002173	NP_002164	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	533	-			176					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.527C>G	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	9.278	1.047416	0.19827	.	.	ENSG00000147885	ENST00000380216	T	0.06371	3.31	2.62	0.408	0.16377	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.595864	0.16365	N	0.217597	T	0.13670	0.0331	M	0.93375	3.41	0.09310	N	1	B	0.28324	0.207	B	0.36134	0.218	T	0.34279	-0.9835	10	0.87932	D	0	.	1.1114	0.01705	0.1489:0.2196:0.4079:0.2236	.	176	P05015	IFN16_HUMAN	C	176	ENSP00000369564:S176C	ENSP00000369564:S176C	S	-	2	0	IFNA16	21206778	0.000000	0.05858	0.022000	0.16811	0.368000	0.29767	-0.043000	0.12043	0.435000	0.26365	0.184000	0.17185	TCT		0.373	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1		NM_002173		169	278	0	0	0	0.01441	0	169	278		
LINGO2	158038	broad.mit.edu	37	9	27950351	27950351	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:27950351G>A	ENST00000379992.2	-	6	768	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	LINGO2_ENST00000308675.3_Silent_p.L107L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	107						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGAACGCAGGTTAAAGAGA	0.448																																						uc003zqu.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(319-321)CTG>TTG		leucine rich repeat and Ig domain containing 2							181.0	181.0	181.0					9																	27950351		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27950351G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.319C>T	9.37:g.27950351G>A						LINGO2_uc010mjf.1_Silent_p.L107L|LINGO2_uc003zqv.1_Silent_p.L107L	p.L107L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	513	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	107			LRR 3.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.319C>T	CCDS6524.1																																																																																				0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2		NM_152570		78	121	0	0	0	0.01441	0	78	121		
TAF1L	138474	broad.mit.edu	37	9	32632499	32632499	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:32632499G>A	ENST00000242310.4	-	1	3168	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1027					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAAATTTACGTAGAAGTTGC	0.473																																						uc003zrg.1		NaN																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3079-3081)CGT>TGT		TBP-associated factor RNA polymerase 1-like							234.0	227.0	229.0					9																	32632499		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632499G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3079C>T	9.37:g.32632499G>A	ENSP00000418379:p.Arg1027Cys					uc003zrh.1_5'Flank	p.R1027C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3169	-			1027					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3079C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635622	0.67130	.	.	ENSG00000122728	ENST00000242310	T	0.15952	2.38	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28038	-1.0056	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1027	Q8IZX4	TAF1L_HUMAN	C	1027	ENSP00000418379:R1027C	ENSP00000418379:R1027C	R	-	1	0	TAF1L	32622499	1.000000	0.71417	0.992000	0.48379	0.625000	0.37756	3.272000	0.51616	0.507000	0.28148	0.195000	0.17529	CGT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2				42	275	0	0	0	0.01441	0	42	275		
TRPM6	140803	broad.mit.edu	37	9	77376712	77376712	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:77376712G>C	ENST00000360774.1	-	27	4922	c.4685C>G	c.(4684-4686)tCt>tGt	p.S1562C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1557C|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1557C|TRPM6_ENST00000451710.3_Missense_Mutation_p.S1562C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1562C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1562					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TATTTCTGAAGAGCCTGAAAG	0.428																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4684-4686)TCT>TGT		transient receptor potential cation channel,							134.0	124.0	127.0					9																	77376712		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376712G>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4685C>G	9.37:g.77376712G>C	ENSP00000354006:p.Ser1562Cys					TRPM6_uc004ajk.1_Missense_Mutation_p.S1557C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S518C	p.S1562C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			27	4923	-			1562			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4685C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063383	0.36373	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.56275	0.57;0.57;0.57;0.57;0.47	5.68	1.79	0.24919	.	1.546970	0.03438	N	0.208807	T	0.56470	0.1987	L	0.54323	1.7	0.09310	N	0.999999	P;D;D	0.53885	0.938;0.963;0.963	B;P;P	0.50378	0.436;0.639;0.639	T	0.30179	-0.9987	10	0.49607	T	0.09	.	4.3029	0.10933	0.1407:0.1249:0.6051:0.1294	.	1562;1557;1557	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1562;1562;1557;1557;1562	ENSP00000354006:S1562C;ENSP00000407341:S1562C;ENSP00000396672:S1557C;ENSP00000354962:S1557C;ENSP00000366060:S1562C	ENSP00000354006:S1562C	S	-	2	0	TRPM6	76566532	0.163000	0.22920	0.035000	0.18076	0.382000	0.30200	0.813000	0.27225	0.136000	0.18733	0.655000	0.94253	TCT		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		15	43	0	0	0	0.008871	0	15	43		
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	C	T	rs372019796		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:79898509C>T	ENST00000360280.3	+	31	3542	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	VPS13A_ENST00000376636.3_Silent_p.N1055N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.N1094N|VPS13A_ENST00000357409.5_Silent_p.N1094N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1094					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGAAATAAACGCAAAGCTAA	0.284																																						uc004akr.2		NaN																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3280-3282)AAC>AAT		vacuolar protein sorting 13A isoform A		T	,,,	0,4404		0,0,2202	50.0	52.0	52.0		3165,3282,3282,3282	3.3	1.0	9		52	1,8587	808.3+/-407.2	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,,	1055/3136,1094/3070,1094/3096,1094/3175	79898509	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898509C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3282C>T	9.37:g.79898509C>T						VPS13A_uc004akp.3_Silent_p.N1094N|VPS13A_uc004akq.3_Silent_p.N1094N|VPS13A_uc004aks.2_Silent_p.N1055N	p.N1094N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			31	3542	+			1094					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3282C>T	CCDS6655.1																																																																																				0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186		18	28	0	0	0	0.014323	0	18	28		
TLE1	7088	broad.mit.edu	37	9	84230956	84230956	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:84230956G>C	ENST00000376499.3	-	11	1923	c.859C>G	c.(859-861)Cca>Gca	p.P287A	TLE1_ENST00000376484.1_5'Flank|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	287	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTGGAAGCTGGACTGCTAGAA	0.502																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NaN																	0				ovary(1)|skin(1)	2						c.(859-861)CCA>GCA		transducin-like enhancer protein 1							111.0	108.0	109.0					9																	84230956		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84230956G>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.859C>G	9.37:g.84230956G>C	ENSP00000365682:p.Pro287Ala					TLE1_uc004alz.2_Missense_Mutation_p.P297A|TLE1_uc011lsr.1_Missense_Mutation_p.P287A|TLE1_uc004ama.1_Missense_Mutation_p.P287A|TLE1_uc011lss.1_Missense_Mutation_p.P213A	p.P287A	NM_005077	NP_005068	Q04724	TLE1_HUMAN			11	1300	-			287			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.859C>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846791	0.91277	.	.	ENSG00000196781	ENST00000376499	T	0.52057	0.68	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	M	0.81802	2.56	0.80722	D	1	P;B;P;B	0.49447	0.924;0.053;0.752;0.386	P;B;P;B	0.62298	0.9;0.059;0.507;0.265	T	0.73294	-0.4028	10	0.87932	D	0	-11.5354	19.3887	0.94570	0.0:0.0:1.0:0.0	.	213;287;314;287	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	A	287	ENSP00000365682:P287A	ENSP00000365682:P287A	P	-	1	0	TLE1	83420776	1.000000	0.71417	0.996000	0.52242	0.756000	0.42949	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	CCA		0.502	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077		15	75	0	0	0	0.024245	0	15	75		
MRPL50	54534	broad.mit.edu	37	9	104153059	104153059	+	Missense_Mutation	SNP	G	G	C	rs532542087		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:104153059G>C	ENST00000374865.4	-	2	187	c.166C>G	c.(166-168)Cga>Gga	p.R56G	MRPL50_ENST00000539624.1_Missense_Mutation_p.R56G	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	56						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCTCGGCTTCGTAAAGGTGGA	0.408																																						uc004bbe.2		NaN																	0					0						c.(166-168)CGA>GGA		mitochondrial ribosomal protein L50							143.0	142.0	143.0					9																	104153059		2203	4300	6503	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104153059G>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.166C>G	9.37:g.104153059G>C	ENSP00000363999:p.Arg56Gly					MRPL50_uc011lvj.1_Missense_Mutation_p.R56G	p.R56G	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN			2	211	-		Acute lymphoblastic leukemia(62;0.0559)	56					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.166C>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500243	0.64298	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.56275	0.47	5.62	4.71	0.59529	.	0.120919	0.37809	N	0.001928	T	0.48822	0.1521	L	0.34521	1.04	0.37503	D	0.91685	B;D	0.54207	0.034;0.965	B;P	0.47603	0.015;0.551	T	0.58691	-0.7592	10	0.66056	D	0.02	-1.8928	13.493	0.61407	0.0:0.1568:0.8432:0.0	.	56;56	B7Z358;Q8N5N7	.;RM50_HUMAN	G	56	ENSP00000363999:R56G	ENSP00000363999:R56G	R	-	1	2	MRPL50	103192880	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.523000	0.53488	1.345000	0.45676	0.557000	0.71058	CGA		0.408	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1		NM_019051		18	58	0	0	0	0.021523	0	18	58		
OR13C5	138799	broad.mit.edu	37	9	107360932	107360932	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:107360932T>C	ENST00000374779.2	-	1	856	c.763A>G	c.(763-765)Atc>Gtc	p.I255V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ATGAGGAAGATGGTCCCACAG	0.438																																						uc011lvp.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(763-765)ATC>GTC		olfactory receptor, family 13, subfamily C,							142.0	127.0	132.0					9																	107360932		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360932T>C		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.763A>G	9.37:g.107360932T>C	ENSP00000363911:p.Ile255Val						p.I255V	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	763	-			255			Helical; Name=6; (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.763A>G	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463103	0.26248	.	.	ENSG00000255800	ENST00000374779	T	0.00115	8.71	4.03	-4.19	0.03835	GPCR, rhodopsin-like superfamily (1);	0.454663	0.16088	U	0.230185	T	0.00144	0.0004	L	0.41356	1.27	0.09310	N	1	P	0.39601	0.68	B	0.40940	0.344	T	0.33523	-0.9865	10	0.40728	T	0.16	.	11.4064	0.49900	0.0:0.5448:0.0:0.4552	.	255	Q8NGS8	O13C5_HUMAN	V	255	ENSP00000363911:I255V	ENSP00000363911:I255V	I	-	1	0	OR13C5	106400753	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-3.078000	0.00615	-0.760000	0.04677	0.347000	0.21830	ATC		0.438	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2		NM_001004482		30	49	0	0	0	0.017118	0	30	49		
SRPX	8406	broad.mit.edu	37	X	38019289	38019289	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:38019289G>A	ENST00000378533.3	-	7	1042	c.936C>T	c.(934-936)ggC>ggT	p.G312G	SRPX_ENST00000544439.1_Silent_p.G292G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.G299G|SRPX_ENST00000538295.1_Silent_p.G312G|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Silent_p.G253G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	312	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGGGCTCCGTGCCAGACCAAG	0.567																																						uc004ddy.1		NaN																	0					0						c.(934-936)GGC>GGT		sushi-repeat-containing protein, X-linked							60.0	46.0	50.0					X																	38019289		2202	4300	6502	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38019289G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.936C>T	X.37:g.38019289G>A						SRPX_uc004ddz.1_Silent_p.G292G|SRPX_uc011mkh.1_Silent_p.G253G|SRPX_uc011mki.1_Silent_p.G312G	p.G312G	NM_006307	NP_006298	P78539	SRPX_HUMAN			7	1022	-			312			Sushi 3.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.936C>T	CCDS14245.1																																																																																				0.567	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1		NM_006307		4	7	0	0	0	0.014758	0	4	7		
SMC1A	8243	broad.mit.edu	37	X	53438989	53438989	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:53438989C>T	ENST00000322213.4	-	6	1196	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	357					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCTGACTCTCTTCTTCCATC	0.527																																						uc004dsg.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1069-1071)GAG>AAG		structural maintenance of chromosomes 1A							115.0	70.0	85.0					X																	53438989		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53438989C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1069G>A	X.37:g.53438989C>T	ENSP00000323421:p.Glu357Lys					SMC1A_uc011moe.1_Missense_Mutation_p.E335K|SMC1A_uc011mof.1_Intron	p.E357K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	1138	-			357			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1069G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186271	0.57909	.	.	ENSG00000072501	ENST00000322213	T	0.79141	-1.24	4.73	3.84	0.44239	RecF/RecN/SMC (1);	0.057551	0.64402	D	0.000003	T	0.68860	0.3047	L	0.33792	1.035	0.80722	D	1	B;P	0.39576	0.196;0.679	B;B	0.39935	0.083;0.314	T	0.68465	-0.5401	10	0.49607	T	0.09	.	12.4605	0.55729	0.1691:0.8309:0.0:0.0	.	335;357	Q6MZR8;Q14683	.;SMC1A_HUMAN	K	357	ENSP00000323421:E357K	ENSP00000323421:E357K	E	-	1	0	SMC1A	53455714	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.200000	0.77838	0.877000	0.35895	0.600000	0.82982	GAG		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		NM_006306		4	6	0	0	0	0.009096	0	4	6		
USP51	158880	broad.mit.edu	37	X	55514287	55514287	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:55514287C>G	ENST00000500968.3	-	2	1168	c.1086G>C	c.(1084-1086)ctG>ctC	p.L362L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	362					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGCCCTCTCAGGCCTACAG	0.403																																						uc004dun.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1084-1086)CTG>CTC		ubiquitin specific protease 51							112.0	108.0	109.0					X																	55514287		2203	4300	6503	SO:0001819	synonymous_variant	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514287C>G	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1086G>C	X.37:g.55514287C>G						USP51_uc011moo.1_Silent_p.L66L	p.L362L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1165	-			362					Q8IWJ8	Silent	SNP	ENST00000500968.3	37	c.1086G>C	CCDS14370.1																																																																																				0.403	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2		NM_201286		20	32	0	0	0	0.014323	0	20	32		
PHKA1	5255	broad.mit.edu	37	X	71840611	71840611	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:71840611A>C	ENST00000373542.4	-	19	2260	c.2101T>G	c.(2101-2103)Tcc>Gcc	p.S701A	PHKA1_ENST00000339490.3_Missense_Mutation_p.S701A|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.S701A|PHKA1_ENST00000373545.3_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	701					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTCACCAAGGACATTAAGTCG	0.552																																						uc004eax.3		NaN																	0				ovary(3)|skin(1)	4						c.(2101-2103)TCC>GCC		phosphorylase kinase, alpha 1 (muscle) isoform							139.0	93.0	108.0					X																	71840611		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71840611A>C		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2101T>G	X.37:g.71840611A>C	ENSP00000362643:p.Ser701Ala					PHKA1_uc004eay.3_Missense_Mutation_p.S701A|PHKA1_uc011mqi.1_Intron	p.S701A	NM_002637	NP_002628	P46020	KPB1_HUMAN			19	2402	-	Renal(35;0.156)		701					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2101T>G	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882705	0.51908	.	.	ENSG00000067177	ENST00000373542;ENST00000339490;ENST00000373539	D;D;D	0.91464	-2.85;-2.79;-2.81	5.58	5.58	0.84498	Glycoside hydrolase 15-related (1);	0.050877	0.85682	D	0.000000	D	0.87908	0.6296	L	0.49640	1.575	0.80722	D	1	B;B	0.20052	0.016;0.041	B;B	0.25405	0.043;0.06	D	0.84208	0.0454	10	0.40728	T	0.16	-28.2474	12.5015	0.55957	1.0:0.0:0.0:0.0	.	701;701	P46020-2;P46020	.;KPB1_HUMAN	A	701	ENSP00000362643:S701A;ENSP00000342469:S701A;ENSP00000362640:S701A	ENSP00000342469:S701A	S	-	1	0	PHKA1	71757336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.301000	0.59086	1.858000	0.53909	0.486000	0.48141	TCC		0.552	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1				5	38	0	0	0	0.021553	0	5	38		
L1CAM	3897	broad.mit.edu	37	X	153131202	153131202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153131202G>A	ENST00000370060.1	-	20	2693	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L	L1CAM_ENST00000543994.1_Missense_Mutation_p.P837L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P835L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P837L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P830L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P830L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P835L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	835	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTCCACCGGCCGCCACTT	0.587																																						uc004fjb.2		NaN																	0				ovary(8)|central_nervous_system(1)	9						c.(2503-2505)CCG>CTG		L1 cell adhesion molecule isoform 1 precursor							96.0	97.0	97.0					X																	153131202		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153131202G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2504C>T	X.37:g.153131202G>A	ENSP00000359077:p.Pro835Leu					L1CAM_uc004fjc.2_Missense_Mutation_p.P835L|L1CAM_uc010nuo.2_Missense_Mutation_p.P830L	p.P835L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			19	2612	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		835			Extracellular (Potential).|Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2504C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050362	0.36181	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	4.49	3.58	0.41010	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112791	0.37906	N	0.001898	T	0.62829	0.2460	M	0.82193	2.58	0.52501	D	0.999959	P;P;P	0.43607	0.775;0.587;0.812	B;B;B	0.43809	0.224;0.187;0.432	T	0.66685	-0.5861	10	0.72032	D	0.01	.	10.6132	0.45434	0.0:0.0:0.8062:0.1938	.	830;835;835	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	835;837;835;837;830;830;835	ENSP00000359077:P835L;ENSP00000438430:P837L;ENSP00000359074:P835L;ENSP00000439645:P837L;ENSP00000354712:P830L;ENSP00000359072:P830L;ENSP00000355380:P835L	ENSP00000355380:P835L	P	-	2	0	L1CAM	152784396	0.965000	0.33210	0.462000	0.27118	0.592000	0.36648	2.791000	0.47829	0.745000	0.32763	0.436000	0.28706	CCG		0.587	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003		35	98	0	0	0	0.01441	0	35	98		
DNASE1L1	1774	broad.mit.edu	37	X	153631496	153631496	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153631496G>A	ENST00000393638.1	-	7	847	c.561C>T	c.(559-561)tgC>tgT	p.C187C	DNASE1L1_ENST00000369809.1_Silent_p.C187C|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	187					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGTGAAGCGCAGTCAGCAT	0.602																																						uc004fks.1		NaN																	0					0						c.(559-561)TGC>TGT		deoxyribonuclease I-like 1 precursor							75.0	71.0	72.0					X																	153631496		2203	4300	6503	SO:0001819	synonymous_variant	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631496G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.561C>T	X.37:g.153631496G>A						RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.C187C|DNASE1L1_uc004fku.1_Silent_p.C187C|DNASE1L1_uc004fkv.1_Silent_p.C187C|DNASE1L1_uc004fkw.1_Silent_p.C187C	p.C187C	NM_006730	NP_006721	P49184	DNSL1_HUMAN			7	752	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187					D3DWW7|Q5HY41	Silent	SNP	ENST00000393638.1	37	c.561C>T	CCDS14747.1																																																																																				0.602	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2				5	84	0	0	0	0.021553	0	5	84		
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						uc001joo.2		NaN																	0				ovary(6)|large_intestine(1)	7						c.(961-963)GAGfs		cell-cycle and apoptosis regulatory protein 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.1_RNA	p.E321fs	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2		NM_018237		8	65	NaN	NaN	NaN	NaN	NaN	8	65	---	---
C10orf55	414236	broad.mit.edu	37	10	75673458	75673459	+	Intron	DEL	GT	GT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:75673458_75673459delGT	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Frame_Shift_Del_p.V208fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Frame_Shift_Del_p.V191fs|PLAU_ENST00000372762.4_Frame_Shift_Del_p.V172fs|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TGTCACCTACGTGTGTGGAGGC	0.599																																						uc001jwa.2		NaN																	0				ovary(2)|kidney(1)	3						c.(622-624)GTGfs		plasminogen activator, urokinase isoform 1	Amiloride(DB00594)|Urokinase(DB00013)																																			SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673458_75673459delGT		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-625AC>-	10.37:g.75673462_75673463delGT						C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Frame_Shift_Del_p.V191fs|PLAU_uc010qkx.1_Frame_Shift_Del_p.V122fs|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Frame_Shift_Del_p.V208fs|PLAU_uc009xrq.1_Frame_Shift_Del_p.V172fs	p.V208fs	NM_002658	NP_002649	P00749	UROK_HUMAN			7	768_769	+	Prostate(51;0.0112)		208			Peptidase S1.		Q3KRG4|Q8NAK4	Frame_Shift_Del	DEL	ENST00000409178.1	37	c.622_623delGT	CCDS53541.1																																																																																				0.599	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1		NM_001001791		202	79	NaN	NaN	NaN	NaN	NaN	202	79	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						uc001oxt.2		NaN																	0					0						c.(13-15)CTGdel		tsukushin precursor																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del						p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	185_187	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1		NM_015516		9	108	NaN	NaN	NaN	NaN	NaN	9	108	---	---
KMT2A	4297	broad.mit.edu	37	11	118374297	118374298	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			-	CCTC	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:118374297_118374298insCCTC	ENST00000389506.5	+	27	7681_7682	c.7681_7682insCCTC	c.(7681-7683)gccfs	p.-2562fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.-2565fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.-2524fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACCAATTTCAGCCTCTGAAAAT	0.431																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7681-7683)GCCfs		myeloid/lymphoid or mixed-lineage leukemia																																				SO:0001589	frameshift_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374297_118374298insCCTC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7682_7685dupCCTC	11.37:g.118374298_118374301dupCCTC	ENSP00000374157:p.Ser2562fs					MLL_uc001ptb.2_Frame_Shift_Ins_p.A2564fs	p.A2561fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7704_7705	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2561					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.7681_7682insCCTC	CCDS31686.1																																																																																				0.431	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		20	60	NaN	NaN	NaN	NaN	NaN	20	60	---	---
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32861134_32861135delAG	ENST00000549701.1	+	4	419_420	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs			O00429	DNM1L_HUMAN	dynamin 1-like	116	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262																																						uc001rld.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(343-348)ACAGAAfs		dynamin 1-like isoform 1																																				SO:0001589	frameshift_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861134_32861135delAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.345_346delAG	12.37:g.32861134_32861135delAG	ENSP00000450399:p.Glu116fs					DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Frame_Shift_Del_p.T115fs|DNM1L_uc001rlf.2_Frame_Shift_Del_p.T115fs|DNM1L_uc010skh.1_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlg.2_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlh.2_Frame_Shift_Del_p.T168fs|DNM1L_uc010ski.1_Intron	p.T115fs	NM_012062	NP_036192	O00429	DNM1L_HUMAN			4	506_507	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		115_116			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	c.345_346delAG	CCDS8729.1																																																																																				0.262	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1		NM_012062		45	49	NaN	NaN	NaN	NaN	NaN	45	49	---	---
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	GCA	-	rs369257660		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:103352172_103352174delGCA	ENST00000266744.3	+	1	709_711	c.150_152delGCA	c.(148-153)gcgcag>gcg	p.Q62del		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						cgcagagcgcgcagcagcagcag	0.754																																						uc001tjr.3		NaN																	0					0						c.(148-153)GCGCAG>GCG		achaete-scute complex homolog 1																																				SO:0001651	inframe_deletion	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352172_103352174delGCA	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.150_152delGCA	12.37:g.103352181_103352183delGCA	ENSP00000266744:p.Gln62del						p.Q62del	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	721_723	+			62	Q -> QQQ (in Ref. 1).		Poly-Gln.		A8K3C4|Q9BQ30	In_Frame_Del	DEL	ENST00000266744.3	37	c.150_152delGCA	CCDS31886.1																																																																																				0.754	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NaN																	0					0						c.(814-819)GAGGCC>GCC		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_uc001yhp.2_In_Frame_Del_p.E208del|BEGAIN_uc001yhq.2_In_Frame_Del_p.E272del	p.E272del	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			6	961_963	-		Melanoma(154;0.212)	272					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.815_817delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1		NM_020836		7	18	NaN	NaN	NaN	NaN	NaN	7	18	---	---
C17orf50	146853	broad.mit.edu	37	17	34093889	34093889	+	IGR	DEL	C	C	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:34093889delC	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50														Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCTTGGGGCCCCGGAACCT	0.682											OREG0024329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hjy.1		NaN																	0				skin(1)	1						c.(1192-1194)GGCfs		matrix metalloproteinase 28 isoform 1							6.0	7.0	6.0					17																	34093889		1827	4000	5827	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34093889delC	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093889delC			OREG0024329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	845	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.G398fs	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	10	1452	-		Ovarian(249;0.17)	398			Hemopexin-like 2.		Q6Q621	Frame_Shift_Del	DEL	ENST00000285023.4	37	c.1193delG	CCDS42298.1																																																																																				0.682	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1		NM_145272		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(2185-2187)AAGfs		ZXD family zinc finger C isoform 1							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs					ZXDC_uc010hsh.2_Intron|ZXDC_uc003eix.2_3'UTR	p.K729fs	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2240	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		10	890	NaN	NaN	NaN	NaN	NaN	10	890	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249748	140249748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140249748delT	ENST00000398640.2	+	1	1060	c.1060delT	c.(1060-1062)ttgfs	p.L354fs	PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	354	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGACTTCCTTGTCCCTCCC	0.572																																						uc003lia.2		NaN																	0				breast(1)	1						c.(1060-1062)TTGfs		protocadherin alpha 11 isoform 1 precursor							74.0	77.0	76.0					5																	140249748		2203	4300	6503	SO:0001589	frameshift_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249748delT	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1060delT	5.37:g.140249748delT	ENSP00000381636:p.Leu354fs					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Frame_Shift_Del_p.L354fs	p.L354fs	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1918	+			354			Cadherin 4.|Extracellular (Potential).		B2RN58|O75279	Frame_Shift_Del	DEL	ENST00000398640.2	37	c.1060delT	CCDS47284.1																																																																																				0.572	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		43	66	NaN	NaN	NaN	NaN	NaN	43	66	---	---
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-	rs139106189		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56087292delC	ENST00000395471.3	-	5	1081		c.e5+1		PSPH_ENST00000275605.3_Splice_Site|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577																																						uc003trg.2		NaN																	0				ovary(1)|skin(1)	2						c.e4+1		phosphoserine phosphatase							44.0	41.0	42.0					7																	56087292		2203	4300	6503	SO:0001630	splice_region_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56087292delC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.275+1G>-	7.37:g.56087292delC						PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	p.R92_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	638	-	Breast(14;0.214)							B2RCR5|Q7Z3S5	Splice_Site	DEL	ENST00000395471.3	37	c.275_splice	CCDS5522.1																																																																																				0.577	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1		NM_004577	Intron	9	98	NaN	NaN	NaN	NaN	NaN	9	98	---	---
ZNF777	27153	broad.mit.edu	37	7	149128965	149128966	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:149128965_149128966delGC	ENST00000247930.4	-	6	2720_2721	c.2397_2398delGC	c.(2395-2400)gcgcacfs	p.H800fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGCCCGTGTGCGCGCGCTGGT	0.678																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(2395-2400)GCGCACfs		zinc finger protein 777																																				SO:0001589	frameshift_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149128965_149128966delGC	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2397_2398delGC	7.37:g.149128971_149128972delGC	ENSP00000247930:p.His800fs						p.A799fs	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2560_2561	-	Melanoma(164;0.165)		Error:Variant_position_missing_in_Q9ULD5_after_alignment					Q8N2R2|Q8N659	Frame_Shift_Del	DEL	ENST00000247930.4	37	c.2397_2398delGC	CCDS43675.1																																																																																				0.678	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		8	43	NaN	NaN	NaN	NaN	NaN	8	43	---	---
ITIH6	347365	broad.mit.edu	37	X	54824559	54824560	+	Frame_Shift_Ins	INS	-	-	G	rs184772252		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:54824559_54824560insG	ENST00000218436.6	-	1	113_114	c.84_85insC	c.(82-87)cccgctfs	p.A29fs		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	29	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTGATGAAGCGGGGACAGGGG	0.48																																						uc004dtj.2		NaN																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(82-87)CCCGCTfs		inter-alpha (globulin) inhibitor H5-like																																				SO:0001589	frameshift_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54824559_54824560insG	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.85dupC	X.37:g.54824563_54824563dupG	ENSP00000218436:p.Ala29fs						p.P28fs	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			1	114_115	-			28_29			VIT.		A6NN03	Frame_Shift_Ins	INS	ENST00000218436.6	37	c.84_85insC	CCDS14361.1																																																																																				0.480	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
