#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAJC16	23341	broad.mit.edu	37	1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	548					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(1642-1644)ttC>ttG		DnaJ (Hsp40) homolog, subfamily C, member 16							351.0	366.0	361.0					1																	15892459		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15892459C>G	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1644C>G	1.37:g.15892459C>G	ENSP00000365007:p.Phe548Leu					DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L	p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	12	1808	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	548					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1644C>G	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460830	0.84317	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.70282	-0.46;-0.47;-0.39	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.70275	2.135	0.30461	N	0.774276	D;D	0.71674	0.997;0.998	D;D	0.77004	0.985;0.989	T	0.78137	-0.2321	10	0.29301	T	0.29	-29.7108	12.2689	0.54695	0.0:0.9225:0.0:0.0775	.	548;548	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	L	548	ENSP00000365007:F548L;ENSP00000364998:F548L;ENSP00000365009:F548L	ENSP00000364998:F548L	F	+	3	2	DNAJC16	15765046	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.561000	0.53770	2.816000	0.96949	0.563000	0.77884	TTC		0.443	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		74	258	74	258	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154224082	154224082	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:154224082C>A	ENST00000361546.2	+	13	1659	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S539R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	539					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACCACGAGCGCCTCTTCAA	0.493																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1615-1617)agC>agA		ubiquitin associated protein 2-like							87.0	88.0	88.0					1																	154224082		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154224082C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1617C>A	1.37:g.154224082C>A	ENSP00000355343:p.Ser539Arg					UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S539R	p.S539R	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		14	1784	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		539					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1617C>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558949	0.65538	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13196	2.61;2.62;2.61;2.62	5.09	4.16	0.48862	.	0.092877	0.85682	D	0.000000	T	0.05686	0.0149	N	0.22421	0.69	0.33283	D	0.562511	P;P;P;P;P	0.41748	0.649;0.761;0.761;0.761;0.649	B;B;B;B;B	0.40901	0.171;0.343;0.257;0.257;0.185	T	0.09228	-1.0684	10	0.72032	D	0.01	-3.27	15.2968	0.73916	0.0:0.8599:0.1401:0.0	.	453;550;532;539;539	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	R	539;539;35;35;550;539	ENSP00000345308:S539R;ENSP00000389445:S539R;ENSP00000271877:S550R;ENSP00000355343:S539R	ENSP00000271877:S550R	S	+	3	2	UBAP2L	152490706	0.578000	0.26717	1.000000	0.80357	0.999000	0.98932	-0.195000	0.09546	1.492000	0.48499	0.650000	0.86243	AGC		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		3	98	3	98	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	ENST00000254508.5	-	3	489	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(406-408)gAg>gGg		nucleoporin 210kDa							68.0	63.0	65.0					3																	13438886		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438886T>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.407A>G	3.37:g.13438886T>C	ENSP00000254508:p.Glu136Gly						p.E136G	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			3	489	-	all_neural(104;0.187)		136					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.407A>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548765	0.65311	.	.	ENSG00000132182	ENST00000254508	T	0.05925	3.37	3.96	3.96	0.45880	.	0.106321	0.64402	N	0.000006	T	0.10165	0.0249	L	0.48642	1.525	0.46823	D	0.999215	P	0.49783	0.928	P	0.47603	0.551	T	0.03630	-1.1018	10	0.66056	D	0.02	-0.385	12.309	0.54918	0.0:0.0:0.0:1.0	.	136	Q8TEM1	PO210_HUMAN	G	136	ENSP00000254508:E136G	ENSP00000254508:E136G	E	-	2	0	NUP210	13413886	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.528000	0.53524	1.812000	0.52913	0.454000	0.30748	GAG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		19	41	19	41	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	ENST00000328333.8	-	30	3927	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3820-3822)Cct>Act		collagen, type VII, alpha 1							121.0	137.0	131.0					3																	48623134		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623134G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3820C>A	3.37:g.48623134G>T	ENSP00000332371:p.Pro1274Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	30	3927	-			1274			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3820C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728292	0.15507	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97710	-4.5;-4.5	5.57	4.7	0.59300	.	0.150548	0.30501	N	0.009494	D	0.98040	0.9354	M	0.71206	2.165	0.38153	D	0.93879	D	0.65815	0.995	P	0.62491	0.903	D	0.99243	1.0885	10	0.49607	T	0.09	.	12.6982	0.57016	0.0761:0.0:0.9239:0.0	.	1274	Q02388	CO7A1_HUMAN	T	1274	ENSP00000332371:P1274T;ENSP00000412569:P1274T	ENSP00000332371:P1274T	P	-	1	0	COL7A1	48598138	1.000000	0.71417	0.435000	0.26784	0.604000	0.37047	2.664000	0.46783	1.363000	0.46019	0.563000	0.77884	CCT		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		53	123	53	123	---	---	---	---
RASSF1	11186	broad.mit.edu	37	3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	ENST00000357043.2	-	3	472	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000359365.4_Missense_Mutation_p.Y142C|RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(424-426)tAc>tGc		Ras association (RalGDS/AF-6) domain family member 1							147.0	121.0	130.0					3																	50369518		2203	4300	6503	SO:0001583	missense	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50369518T>C	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.437A>G	3.37:g.50369518T>C	ENSP00000349547:p.Tyr146Cys					RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000395126.3_5'UTR	p.Y142C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	531	-			146						Missense_Mutation	SNP	ENST00000357043.2	37	c.425A>G	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581321	0.86748	.	.	ENSG00000068028	ENST00000327761;ENST00000357043;ENST00000359365	T;D;D	0.88509	1.41;-2.39;-2.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.95205	0.8320	10	0.87932	D	0	-33.2416	14.4425	0.67327	0.0:0.0:0.0:1.0	.	142;146;72	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	C	72;146;142	ENSP00000333327:Y72C;ENSP00000349547:Y146C;ENSP00000352323:Y142C	ENSP00000333327:Y72C	Y	-	2	0	RASSF1	50344522	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.969000	0.87988	2.094000	0.63399	0.379000	0.24179	TAC		0.557	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			3	103	3	103	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	ENST00000399770.2	+	1	209	c.209G>A	c.(208-210)gGt>gAt	p.G70D	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	70					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(208-210)gGt>gAt		glutaredoxin, cysteine rich 1							162.0	170.0	167.0					4																	42895492		2057	4209	6266	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895492G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.209G>A	4.37:g.42895492G>A	ENSP00000382670:p.Gly70Asp						p.G70D	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	209	+			70						Missense_Mutation	SNP	ENST00000399770.2	37	c.209G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968488	0.02232	.	.	ENSG00000215203	ENST00000399770	T	0.32515	1.45	5.34	4.49	0.54785	.	0.639727	0.14736	N	0.301468	T	0.17916	0.0430	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25398	-1.0133	10	0.12766	T	0.61	-11.226	7.5744	0.27926	0.0838:0.0:0.7523:0.1639	.	70	A8MXD5	GRCR1_HUMAN	D	70	ENSP00000382670:G70D	ENSP00000382670:G70D	G	+	2	0	GRXCR1	42590249	0.933000	0.31639	0.569000	0.28460	0.093000	0.18481	2.212000	0.42835	1.463000	0.47967	0.650000	0.86243	GGT		0.463	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		4	154	4	154	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	ENST00000295213.4	+	8	1464	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	364					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1090-1092)Tct>Act		spermatogenesis associated 18							238.0	209.0	219.0					4																	52944970		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52944970T>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1090T>A	4.37:g.52944970T>A	ENSP00000295213:p.Ser364Thr					SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	p.S364T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		8	1464	+			364					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1090T>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	2.677	-0.276202	0.05679	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.32988	1.43;1.59	4.99	-0.893	0.10567	.	0.744958	0.12701	N	0.446341	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B;B;P	0.45902	0.031;0.031;0.868	B;B;P	0.46585	0.019;0.011;0.521	T	0.17137	-1.0379	10	0.09338	T	0.73	-8.7228	5.1742	0.15126	0.4124:0.0828:0.0:0.5048	.	332;364;364	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	T	364;332	ENSP00000295213:S364T;ENSP00000415309:S332T	ENSP00000295213:S364T	S	+	1	0	SPATA18	52639727	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.359000	0.20233	0.043000	0.15746	-0.274000	0.10170	TCT		0.378	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		6	111	6	111	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	ENST00000446444.1	-	6	1407	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	467					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1399-1401)Gtc>Ttc		UDP glucuronosyltransferase 2 family, polypeptide B11							126.0	124.0	125.0					4																	70066349		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70066349C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1399G>T	4.37:g.70066349C>A	ENSP00000387683:p.Val467Phe					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.V467F	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			6	1407	-			467					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1399G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.912	1.209689	0.22289	.	.	ENSG00000213759	ENST00000446444	T	0.69685	-0.42	1.27	1.27	0.21489	.	0.210926	0.30593	U	0.009295	D	0.85553	0.5723	H	0.97829	4.085	0.22819	N	0.998697	D	0.89917	1.0	D	0.79784	0.993	T	0.74910	-0.3503	10	0.87932	D	0	.	8.4963	0.33130	0.0:1.0:0.0:0.0	.	467	O75310	UDB11_HUMAN	F	467	ENSP00000387683:V467F	ENSP00000387683:V467F	V	-	1	0	UGT2B11	70100938	1.000000	0.71417	0.995000	0.50966	0.206000	0.24218	1.826000	0.39092	1.023000	0.39654	0.184000	0.17185	GTC		0.438	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		27	99	27	99	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	ENST00000295488.3	-	4	1435	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	425	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1273-1275)Act>Gct	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							90.0	87.0	88.0					4																	84368107		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84368107T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1273A>G	4.37:g.84368107T>C	ENSP00000295488:p.Thr425Ala					HELQ_ENST00000510985.1_Intron	p.T425A	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN			4	1435	-			425			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1273A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	9.812	1.183325	0.21870	.	.	ENSG00000163312	ENST00000295488	T	0.14640	2.49	5.34	0.343	0.16001	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.426079	0.27298	N	0.020020	T	0.06280	0.0162	N	0.13352	0.335	0.36709	D	0.88053	B	0.12013	0.005	B	0.19946	0.027	T	0.38887	-0.9640	10	0.08837	T	0.75	-5.3889	8.838	0.35123	0.0:0.29:0.0:0.71	.	425	Q8TDG4	HELQ_HUMAN	A	425	ENSP00000295488:T425A	ENSP00000295488:T425A	T	-	1	0	HELQ	84587131	0.994000	0.37717	0.941000	0.38009	0.927000	0.56198	0.790000	0.26900	0.113000	0.18004	0.477000	0.44152	ACT		0.353	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		12	48	12	48	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183675933	183675933	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:183675933C>T	ENST00000511685.1	+	22	4536	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1471					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGCCAAACTCAGTGCCCCAT	0.498																																						ENST00000511685.1																			0											c.(4411-4413)ctC>ctT		teneurin transmembrane protein 3							81.0	84.0	83.0					4																	183675933		2009	4184	6193	SO:0001819	synonymous_variant	55714							g.chr4:183675933C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4413C>T	4.37:g.183675933C>T						TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR	p.L1471L							22	4536	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.4413C>T	CCDS47165.1																																																																																				0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			14	46	14	46	---	---	---	---
TAS2R5	54429	broad.mit.edu	37	7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	ENST00000247883.4	+	1	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	103					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(307-309)tAt>tGt		taste receptor, type 2, member 5							83.0	79.0	80.0					7																	141490469		2203	4300	6503	SO:0001583	missense	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490469A>G	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.308A>G	7.37:g.141490469A>G	ENSP00000247883:p.Tyr103Cys						p.Y103C	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	453	+	Melanoma(164;0.0171)		103					Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	c.308A>G	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948472	0.53186	.	.	ENSG00000127366	ENST00000247883	T	0.37058	1.22	4.46	-0.693	0.11298	.	.	.	.	.	T	0.52821	0.1758	M	0.84326	2.69	0.22266	N	0.999247	D	0.89917	1.0	D	0.97110	1.0	T	0.44081	-0.9351	9	0.87932	D	0	.	0.4505	0.00500	0.428:0.1836:0.2108:0.1777	.	103	Q9NYW4	TA2R5_HUMAN	C	103	ENSP00000247883:Y103C	ENSP00000247883:Y103C	Y	+	2	0	TAS2R5	141136938	0.996000	0.38824	0.808000	0.32385	0.917000	0.54804	1.580000	0.36547	0.268000	0.21939	0.459000	0.35465	TAT		0.517	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			11	28	11	28	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151970814	151970814	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:151970814G>T	ENST00000262189.6	-	7	1206	c.988C>A	c.(988-990)Cac>Aac	p.H330N	KMT2C_ENST00000355193.2_Missense_Mutation_p.H330N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	330					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGTCAATGTGTTCTGGACAA	0.393																																						ENST00000355193.2																			0											c.(988-990)Cac>Aac		lysine (K)-specific methyltransferase 2C							246.0	229.0	235.0					7																	151970814		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970814G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.988C>A	7.37:g.151970814G>T	ENSP00000262189:p.His330Asn					KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N	p.H330N							7	1206	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.988C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217809	0.58560	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45606	U	0.000358	D	0.94928	0.8360	H	0.95850	3.73	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96110	0.9076	10	0.54805	T	0.06	.	18.1678	0.89734	0.0:0.0:1.0:0.0	.	330	Q8NEZ4	MLL3_HUMAN	N	330	ENSP00000262189:H330N;ENSP00000347325:H330N	ENSP00000262189:H330N	H	-	1	0	MLL3	151601747	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.900000	0.87376	2.375000	0.81037	0.585000	0.79938	CAC		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	196	4	196	---	---	---	---
EN2	2020	broad.mit.edu	37	7	155255151	155255151	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	ENST00000297375.4	+	2	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	257					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(769-771)caG>caA		engrailed homeobox 2							66.0	71.0	70.0					7																	155255151		2203	4300	6503	SO:0001819	synonymous_variant	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255151G>A		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.771G>A	7.37:g.155255151G>A							p.Q257Q	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1020	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	257					A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	c.771G>A	CCDS5940.1																																																																																				0.592	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		12	52	12	52	---	---	---	---
PLPPR1	54886	broad.mit.edu	37	9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	ENST00000374874.3	+	8	1392	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y|SNORA31_ENST00000517232.1_RNA	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		318					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										CAGAATCACTCTGCGTCCATG	0.418																																						ENST00000374874.3																			0											c.(952-954)tCt>tAt									165.0	128.0	140.0					9																	104086314		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104086314C>A																												ENST00000374874.3:c.953C>A	9.37:g.104086314C>A	ENSP00000364008:p.Ser318Tyr					LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			8	1392	+			318					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.953C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670016	0.67814	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.32988	1.43;1.43	5.24	5.24	0.73138	.	0.153934	0.44902	D	0.000401	T	0.50051	0.1593	L	0.54323	1.7	0.80722	D	1	P;D	0.65815	0.877;0.995	B;D	0.72982	0.427;0.979	T	0.30090	-0.9990	10	0.22706	T	0.39	-33.5072	17.8069	0.88604	0.0:1.0:0.0:0.0	.	302;318	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	Y	318	ENSP00000364008:S318Y;ENSP00000378496:S318Y	ENSP00000364005:S318Y	S	+	2	0	RP11-35N6.1	103126135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.013000	0.70776	2.449000	0.82847	0.650000	0.86243	TCT		0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			4	47	4	47	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95849072	95849072	+	Intron	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:95849072A>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V|PLCE1_ENST00000371375.1_Missense_Mutation_p.E74V|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCGCTCTCTGAGGTACCCAAT	0.512																																						ENST00000371375.1																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(220-222)gAg>gTg		phospholipase C, epsilon 1							147.0	131.0	136.0					10																	95849072		1568	3582	5150	SO:0001627	intron_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95849072A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42859A>T	10.37:g.95849072A>T						PLCE1_ENST00000371380.3_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V	p.E74V			Q9P212	PLCE1_HUMAN			1	221	+		Colorectal(252;0.0458)	0					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.221A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822663	0.16678	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.25414	1.8;1.8	5.92	-0.836	0.10770	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	8	0.62326	D	0.03	.	0.6769	0.00868	0.3451:0.2733:0.2152:0.1664	.	74	Q9P212-2	.	V	74	ENSP00000360438:E74V;ENSP00000360426:E74V	ENSP00000360426:E74V	E	+	2	0	PLCE1	95839062	0.000000	0.05858	0.230000	0.23976	0.844000	0.47949	-0.123000	0.10611	0.035000	0.15519	-0.267000	0.10333	GAG		0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	79	6	79	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	ENST00000368679.4	-	2	422	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(112-114)aGa>aCa		ADAM metallopeptidase domain 12							129.0	130.0	130.0					10																	128019054		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:128019054C>G	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.113G>C	10.37:g.128019054C>G	ENSP00000357668:p.Arg38Thr					ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	2	422	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	38					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.113G>C	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	4.658	0.122308	0.08931	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.19938	4.89;2.11;3.83	4.93	1.6	0.23607	.	0.629773	0.12305	U	0.480753	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.002	T	0.40421	-0.9564	10	0.14252	T	0.57	.	4.617	0.12432	0.0:0.3183:0.5112:0.1705	.	38;38;38;38;38	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	38	ENSP00000357668:R38T;ENSP00000357665:R38T;ENSP00000391268:R38T	ENSP00000357665:R38T	R	-	2	0	ADAM12	128009044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	0.245000	0.21373	0.655000	0.94253	AGA		0.458	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			20	89	20	89	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61196740	61196740	+	5'UTR	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:61196740T>C	ENST00000394888.4	-	0	140				CPSF7_ENST00000439958.3_5'UTR|RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|SDHAF2_ENST00000537782.1_5'Flank|CPSF7_ENST00000448745.1_5'UTR|SDHAF2_ENST00000534878.1_5'Flank|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000340437.4_Missense_Mutation_p.I33V|SDHAF2_ENST00000542074.1_5'Flank	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTCCGGAGGATGGACAAAGTA	0.502																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(97-99)Atc>Gtc		cleavage and polyadenylation specific factor 7, 59kDa							103.0	100.0	101.0					11																	61196740		2202	4299	6501	SO:0001623	5_prime_UTR_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196740T>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.-33A>G	11.37:g.61196740T>C						CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000439958.3_5'UTR	p.I33V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			2	177	-			0					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.97A>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635311	0.29068	.	.	ENSG00000149532	ENST00000340437	.	.	.	3.94	-7.87	0.01183	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.20638	N	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	7	0.22109	T	0.4	.	6.3875	0.21569	0.0:0.2411:0.336:0.4228	.	33	Q8N684-3	.	V	33	.	ENSP00000345412:I33V	I	-	1	0	CPSF7	60953316	0.000000	0.05858	0.000000	0.03702	0.505000	0.33919	-1.798000	0.01747	-1.879000	0.01126	0.460000	0.39030	ATC		0.502	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		18	61	18	61	---	---	---	---
PRKAG1	5571	broad.mit.edu	37	12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	98	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TGATTTATAGTAGCGGTGCAG	0.478																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(292-294)tAc>tGc		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							127.0	123.0	124.0					12																	49399105		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49399105T>C	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.293A>G	12.37:g.49399105T>C	ENSP00000447433:p.Tyr98Cys					RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C	p.Y98C			P54619	AAKG1_HUMAN			5	749	-			98			CBS 1.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.293A>G	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618474	0.66787	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605;ENST00000547082	D;D;D;D;D;D;D;D;D;D;D;T;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-1.43;-2.89	6.16	6.16	0.99307	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (1);	0.056912	0.64402	N	0.000001	D	0.96062	0.8717	M	0.80332	2.49	0.80722	D	1	D;P;D	0.89917	1.0;0.876;0.993	D;P;D	0.91635	0.999;0.493;0.934	D	0.96080	0.9053	10	0.56958	D	0.05	-12.8029	15.7887	0.78332	0.0:0.0:0.0:1.0	.	98;107;98	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	C	14;47;107;98;66;73;47;14;66;66;66;14;66	ENSP00000378599:Y14C;ENSP00000448873:Y47C;ENSP00000323867:Y107C;ENSP00000447433:Y98C;ENSP00000448972:Y66C;ENSP00000449121:Y73C;ENSP00000447671:Y47C;ENSP00000450112:Y14C;ENSP00000449637:Y66C;ENSP00000448251:Y66C;ENSP00000448739:Y66C;ENSP00000449104:Y14C;ENSP00000448290:Y66C	ENSP00000323867:Y107C	Y	-	2	0	PRKAG1	47685372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.905000	0.87416	2.367000	0.80283	0.528000	0.53228	TAC		0.478	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		26	80	26	80	---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	ENST00000400017.2	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	576					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1726-1728)Gaa>Taa		retinitis pigmentosa GTPase regulator interacting protein 1							87.0	84.0	85.0					14																	21790127		1893	4119	6012	SO:0001587	stop_gained	57096				response to stimulus|visual perception	cilium		g.chr14:21790127G>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1726G>T	14.37:g.21790127G>T	ENSP00000382895:p.Glu576*					RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*	p.E576*			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	13	1726	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	576					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	c.1726G>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280607	0.98182	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	.	.	.	4.58	4.58	0.56647	.	0.059512	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.6075	16.6482	0.85182	0.0:0.0:1.0:0.0	.	.	.	.	X	549;549;576;576;218;51;49	.	ENSP00000206660:E576X	E	+	1	0	RPGRIP1	20859967	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.628000	0.83189	2.538000	0.85594	0.305000	0.20034	GAA		0.443	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		5	26	5	26	---	---	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12847399	12847399	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:12847399G>A	ENST00000379672.5	+	10	1047	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_ENST00000262444.9_Silent_p.E249E|ARHGAP44_ENST00000340825.3_Silent_p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	249	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTGGGTAGAGAAGCCTTCCT	0.572																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(745-747)gaG>gaA		Rho GTPase activating protein 44							27.0	33.0	31.0					17																	12847399		1987	4174	6161	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847399G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.747G>A	17.37:g.12847399G>A						ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E	p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			10	1047	+			249			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.747G>A	CCDS45616.1																																																																																				0.572	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		3	13	3	13	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	ENST00000379751.4	-	1	448	c.242T>A	c.(241-243)cTc>cAc	p.L81H	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	81	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(241-243)cTc>cAc		centromere protein B, 80kDa							70.0	67.0	68.0					20																	3766889		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766889A>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.242T>A	20.37:g.3766889A>T	ENSP00000369075:p.Leu81His						p.L81H	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	448	-			81			HTH CENPB-type.		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.242T>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.960221	0.53400	.	.	ENSG00000125817	ENST00000379751	T	0.33865	1.39	3.28	2.12	0.27331	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.30830	U	0.008786	T	0.63780	0.2540	H	0.94345	3.525	0.29147	N	0.878633	D	0.89917	1.0	D	0.91635	0.999	T	0.60424	-0.7266	10	0.87932	D	0	.	5.3106	0.15828	0.7376:0.0:0.2624:0.0	.	81	P07199	CENPB_HUMAN	H	81	ENSP00000369075:L81H	ENSP00000369075:L81H	L	-	2	0	CENPB	3714889	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	1.039000	0.30266	0.173000	0.19788	0.149000	0.16113	CTC		0.652	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		21	44	21	44	---	---	---	---
ZRSR2	8233	broad.mit.edu	37	X	15809137	15809137	+	Splice_Site	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	ENST00000307771.7	+	2	145		c.e2+1		ZRSR2_ENST00000380308.3_Splice_Site|ZRSR2_ENST00000468028.1_Splice_Site	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2						mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.e2+1		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							74.0	66.0	69.0					X																	15809137		2203	4300	6503	SO:0001630	splice_region_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15809137G>T	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.121+1G>T	X.37:g.15809137G>T						ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			2	145	+	Hepatocellular(33;0.183)							Q14D69	Splice_Site	SNP	ENST00000307771.7	37		CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195344	0.58126	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6035	0.56511	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZRSR2	15719058	1.000000	0.71417	0.969000	0.41365	0.750000	0.42670	3.134000	0.50538	2.116000	0.64780	0.429000	0.28392	.		0.458	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	Intron	6	13	6	13	---	---	---	---
MT-ND2	4536	broad.mit.edu	37	M	2622	2622	+	5'Flank	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:2622G>A	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND1_ENST00000361390.2_5'Flank			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						tccttaaatagggacctgtat	0.507																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2622G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2622G>A	Exception_encountered							NR_039705.1						0	952	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.507	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		14	6	14	6	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	11383	11383	+	Silent	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:11383T>C	ENST00000361381.2	+	1	624	c.624T>C	c.(622-624)ccT>ccC	p.P208P	MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	208					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GTAAAGATACCTCTTTACGGA	0.433																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(622-624)ccT>ccC		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11383T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.624T>C	M.37:g.11383T>C							p.P208P							1	624	+								Q6RL39|Q6RQN9|Q8HNR8	Silent	SNP	ENST00000361381.2	37	c.624T>C																																																																																					0.433	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		6	5	6	5	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49437439	49437440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49437439_49437440insA	ENST00000301067.7	-	23	5444_5445	c.5445_5446insT	c.(5443-5448)aaggaafs	p.E1816fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1816					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGGGAGTTCCTTCCTTTCTG	0.525											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301067.7																			0											c.(5443-5448)aaggaafs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49437439_49437440insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5445_5446insT	12.37:g.49437439_49437440insA	ENSP00000301067:p.Glu1816fs		OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.E1816fs	NM_003482.3	NP_003473.3					23	5444_5445	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.5445_5446insT	CCDS44873.1																																																																																				0.525	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	45	13	45	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-	rs561419089		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	ENST00000301030.4	-	9	3494_3496	c.3034_3036delAAG	c.(3034-3036)aagdel	p.K1012del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.				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)		CGGGGCCATCCTTCTTCTCCTTC	0.512																																						ENST00000301030.4																			0				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						c.(3034-3036)aagdel		ankyrin repeat domain 11																																				SO:0001651	inframe_deletion	29123					nucleus		g.chr16:89349914_89349916delCTT	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.3034_3036delAAG	16.37:g.89349917_89349919delCTT	ENSP00000301030:p.Lys1012del					ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	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	3494_3496	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1012			Lys-rich.		Q6NTG1|Q6QMF8	In_Frame_Del	DEL	ENST00000301030.4	37	c.3034_3036delAAG	CCDS32513.1																																																																																				0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		27	94	27	94	---	---	---	---
