#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RTTN	25914	broad.mit.edu	37	18	67727116	67727116	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr18:67727116C>T	ENST00000255674.6	-	36	5196	c.4910G>A	c.(4909-4911)cGa>cAa	p.R1637Q	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1637					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATGAGCTTGTCGAAAAGCCTT	0.403																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4909-4911)cGa>cAa		rotatin							80.0	82.0	81.0					18																	67727116		1885	4112	5997	SO:0001583	missense	25914						binding	g.chr18:67727116C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4910G>A	18.37:g.67727116C>T	ENSP00000255674:p.Arg1637Gln					RTTN_ENST00000454359.1_3'UTR	p.R1637Q	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			36	5196	-		Esophageal squamous(42;0.129)	1637					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4910G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	c	10.12	1.262052	0.23051	.	.	ENSG00000176225	ENST00000255674	T	0.51574	0.7	5.66	-2.24	0.06909	Armadillo-like helical (1);	1.089020	0.06824	N	0.792790	T	0.27349	0.0671	N	0.19112	0.55	0.18873	N	0.999989	B	0.23058	0.079	B	0.14023	0.01	T	0.18808	-1.0325	10	0.20046	T	0.44	.	6.6872	0.23152	0.0:0.1995:0.1493:0.6513	.	1637	Q86VV8	RTTN_HUMAN	Q	1637	ENSP00000255674:R1637Q	ENSP00000255674:R1637Q	R	-	2	0	RTTN	65878096	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.374000	0.07484	-0.252000	0.09528	-0.127000	0.14921	CGA		0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		9	10	0	0	0	1	0	9	10				
GUCY1A2	2977	broad.mit.edu	37	11	106810250	106810250	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:106810250C>T	ENST00000526355.2	-	4	1610	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R381Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R381Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	381					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGTAGACAGTCGCAGCAGGAC	0.463																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1141-1143)cGa>cAa		guanylate cyclase 1, soluble, alpha 2							93.0	94.0	94.0					11																	106810250		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810250C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1142G>A	11.37:g.106810250C>T	ENSP00000431245:p.Arg381Gln					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R381Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R381Q	p.R381Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1610	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	381					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1142G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936527	0.92458	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88664	-2.41;-2.41;-2.41	5.77	5.77	0.91146	Haem NO binding associated (1);	0.000000	0.42682	U	0.000680	D	0.92655	0.7666	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.995;0.95;0.998	D	0.91264	0.5039	10	0.37606	T	0.19	.	18.9594	0.92671	0.0:1.0:0.0:0.0	.	381;381;381	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	381	ENSP00000431245:R381Q;ENSP00000282249:R381Q;ENSP00000344874:R381Q	ENSP00000282249:R381Q	R	-	2	0	GUCY1A2	106315460	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.591000	0.81541	CGA		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			31	46	0	0	0	1	0	31	46				
KRTAP1-5	83895	broad.mit.edu	37	17	39183231	39183231	+	Silent	SNP	A	A	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr17:39183231A>G	ENST00000361883.5	-	1	223	c.177T>C	c.(175-177)agT>agC	p.S59S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	59	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGCAGCAACTGGAGCTGC	0.617																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(175-177)agT>agC		keratin associated protein 1-5							35.0	41.0	39.0					17																	39183231		2035	4208	6243	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183231A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.177T>C	17.37:g.39183231A>G							p.S59S	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	223	-		Breast(137;0.00043)	59			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.177T>C	CCDS42321.1																																																																																				0.617	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	55	0	0	0	1	0	3	55				
DIDO1	11083	broad.mit.edu	37	20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	349					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTGTACAATCGGTGCCATC	0.463																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1045-1047)gAt>gGt		death inducer-obliterator 1							205.0	185.0	192.0					20																	61541166		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541166T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1046A>G	20.37:g.61541166T>C	ENSP00000266070:p.Asp349Gly					DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G	p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			4	1371	-	Breast(26;5.68e-08)		349					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1046A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.564815	0.27915	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19394	2.99;2.99;2.63;2.63;2.15;2.15;2.15;2.15;2.15	5.35	4.22	0.49857	.	0.156070	0.29508	N	0.011958	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	0.999998	P;B;P;P	0.43826	0.818;0.452;0.573;0.666	B;B;B;B	0.36567	0.228;0.164;0.202;0.162	T	0.09952	-1.0651	10	0.29301	T	0.29	-20.1485	11.2771	0.49174	0.0:0.0:0.1529:0.8471	.	349;349;349;349	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	G	349	ENSP00000266070:D349G;ENSP00000378752:D349G;ENSP00000378749:D349G;ENSP00000378744:D349G;ENSP00000359397:D349G;ENSP00000359394:D349G;ENSP00000346692:D349G;ENSP00000359391:D349G;ENSP00000266071:D349G	ENSP00000266070:D349G	D	-	2	0	DIDO1	61011611	0.981000	0.34729	0.168000	0.22838	0.022000	0.10575	3.455000	0.52993	0.939000	0.37446	0.454000	0.30748	GAT		0.463	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		30	68	0	0	0	1	0	30	68				
SPATA5	166378	broad.mit.edu	37	4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:123848881G>C	ENST00000274008.4	+	2	325	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	86					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGACCAGTGTTGCTTAC	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(256-258)Gtg>Ctg		spermatogenesis associated 5							133.0	130.0	131.0					4																	123848881		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848881G>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.256G>C	4.37:g.123848881G>C	ENSP00000274008:p.Val86Leu					SPATA5_ENST00000422835.2_3'UTR	p.V86L	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	325	+			86					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.256G>C	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611871	0.66558	.	.	ENSG00000145375	ENST00000274008	D	0.87334	-2.24	4.38	4.38	0.52667	Aspartate decarboxylase-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88112	0.6349	L	0.59436	1.845	0.45867	D	0.998721	D;D	0.61697	0.982;0.99	B;P	0.49301	0.401;0.606	D	0.89810	0.3981	10	0.72032	D	0.01	-15.0092	15.7091	0.77609	0.0:0.0:1.0:0.0	.	86;86	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	86	ENSP00000274008:V86L	ENSP00000274008:V86L	V	+	1	0	SPATA5	124068331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.828000	0.69307	2.459000	0.83118	0.655000	0.94253	GTG		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		34	55	0	0	0	1	0	34	55				
ASB6	140459	broad.mit.edu	37	9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T	rs372239131		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:132401543C>T	ENST00000277458.4	-	4	614	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	150					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCAGGCGCTCAGGCTC	0.652																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(448-450)cGc>cAc		ankyrin repeat and SOCS box containing 6		C	HIS/ARG,HIS/ARG,	0,4406		0,0,2203	66.0	68.0	67.0		449,449,	5.3	1.0	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	ASB6	NM_001202403.1,NM_017873.3,NM_177999.2	29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	150/393,150/422,	132401543	1,13005	2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132401543C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.449G>A	9.37:g.132401543C>T	ENSP00000277458:p.Arg150His					ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Missense_Mutation_p.R71H	p.R150H	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			4	614	-		Ovarian(14;0.00556)	150					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.449G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568431	0.86439	0.0	1.16E-4	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.62639	0.01;0.01	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.049176	0.85682	D	0.000000	T	0.56485	0.1988	N	0.02142	-0.665	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.984	T	0.66224	-0.5977	10	0.25751	T	0.34	-41.7797	17.942	0.89028	0.0:1.0:0.0:0.0	.	71;150;150	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	150;71	ENSP00000277458:R150H;ENSP00000416172:R71H	ENSP00000277458:R150H	R	-	2	0	ASB6	131441364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.696000	0.68287	2.464000	0.83262	0.561000	0.74099	CGC		0.652	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		25	69	0	0	0	1	0	25	69				
CROCCP2	84809	broad.mit.edu	37	1	16946393	16946393	+	lincRNA	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCTGCTGCAGGGCAGCAATC	0.662																																						ENST00000412962.1																			0																																																			0							g.chr1:16946393G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946393G>A														0	1126	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	22	0	0	0	1	0	3	22				
HTR1E	3354	broad.mit.edu	37	6	87725912	87725912	+	Missense_Mutation	SNP	G	G	A	rs61735411		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:87725912G>A	ENST00000305344.5	+	2	1563	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R287Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCAGGGAACGGAAGGCAGCA	0.502																																						ENST00000305344.4																			1	Substitution - Missense(1)	p.R287Q(1)	kidney(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(859-861)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						175.0	162.0	167.0					6																	87725912		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725912G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.860G>A	6.37:g.87725912G>A	ENSP00000307766:p.Arg287Gln					HTR1E_ENST00000369584.1_Missense_Mutation_p.R287Q	p.R287Q	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1563	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	287					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.860G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979157	0.53827	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72835	-0.69;-0.69	4.44	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.75384	0.3842	M	0.68593	2.085	0.47819	D	0.999527	D	0.89917	1.0	D	0.74674	0.984	T	0.77153	-0.2692	10	0.49607	T	0.09	.	13.4304	0.61051	0.0:0.0:0.8416:0.1583	rs61735411	287	P28566	5HT1E_HUMAN	Q	287	ENSP00000307766:R287Q;ENSP00000358597:R287Q	ENSP00000307766:R287Q	R	+	2	0	HTR1E	87782631	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	9.219000	0.95173	0.821000	0.34540	0.205000	0.17691	CGG		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		31	84	0	0	0	1	0	31	84				
ATM	472	broad.mit.edu	37	11	108199783	108199783	+	Silent	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:108199783T>C	ENST00000452508.2	+	50	7314	c.7125T>C	c.(7123-7125)agT>agC	p.S2375S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.S2375S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2375	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGAGAAAGTAGTGATGAGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7123-7125)agT>agC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							67.0	71.0	69.0					11																	108199783		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199783T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7125T>C	11.37:g.108199783T>C		TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.S2375S	p.S2375S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	49	7510	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2375			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.7125T>C	CCDS31669.1																																																																																				0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	27	0	0	0	1	0	17	27				
EPB41L4A	64097	broad.mit.edu	37	5	111540132	111540132	+	Missense_Mutation	SNP	G	G	A	rs201974109		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr5:111540132G>A	ENST00000261486.5	-	15	1592	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	439						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TCGGCGACGCGTGTAAGGGAA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16066	0.0		0.0	False		,,,				2504	0.0					ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1315-1317)aCg>aTg		erythrocyte membrane protein band 4.1 like 4A							184.0	185.0	185.0					5																	111540132		1959	4150	6109	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111540132G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1316C>T	5.37:g.111540132G>A	ENSP00000261486:p.Thr439Met					EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA	p.T439M	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	15	1592	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	439					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1316C>T	CCDS43350.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.51	1.659365	0.29515	.	.	ENSG00000129595	ENST00000261486	D	0.82711	-1.64	5.99	5.12	0.69794	.	0.659430	0.15962	N	0.236182	T	0.67297	0.2878	N	0.08118	0	0.09310	N	1	P;B	0.35793	0.521;0.145	B;B	0.31337	0.128;0.021	T	0.61778	-0.6993	10	0.52906	T	0.07	.	12.5635	0.56295	0.0776:0.0:0.9224:0.0	.	439;66	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	M	439	ENSP00000261486:T439M	ENSP00000261486:T439M	T	-	2	0	EPB41L4A	111568031	0.296000	0.24398	0.002000	0.10522	0.606000	0.37113	3.724000	0.54962	1.538000	0.49270	0.655000	0.94253	ACG		0.498	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			33	78	0	0	0	1	0	33	78				
SPAG16	79582	broad.mit.edu	37	2	215274874	215274874	+	Silent	SNP	A	A	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|VWC2L_ENST00000427124.1_5'Flank|VWC2L_ENST00000312504.5_5'Flank|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCGAGTTTTAGCTCAGGCAA	0.413																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1729-1731)ttA>ttG		sperm associated antigen 16							79.0	76.0	77.0					2																	215274874		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274874A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1731A>G	2.37:g.215274874A>G						AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L	p.L577L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1826	+		Renal(323;0.00461)	577					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1731A>G	CCDS2396.1																																																																																				0.413	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		3	48	0	0	0	1	0	3	48				
WAPAL	23063	broad.mit.edu	37	10	88260094	88260094	+	Silent	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr10:88260094C>T	ENST00000298767.5	-	3	1378	c.906G>A	c.(904-906)acG>acA	p.T302T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	302	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGGAGGATTTCGTTTTATTGG	0.428																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(904-906)acG>acA		wings apart-like homolog (Drosophila)							139.0	128.0	131.0					10																	88260094		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260094C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.906G>A	10.37:g.88260094C>T							p.T302T	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1378	-			302			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.906G>A	CCDS7375.1																																																																																				0.428	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		49	91	0	0	0	1	0	49	91				
FLG2	388698	broad.mit.edu	37	1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTAGACTCATGCTGGCCAC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1366-1368)caT>caA		filaggrin family member 2							188.0	181.0	183.0					1																	152328894		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328894A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1368T>A	1.37:g.152328894A>T	ENSP00000373370:p.His456Gln					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H456Q	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1440	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		456			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1368T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.785	1.176370	0.21704	.	.	ENSG00000143520	ENST00000388718	T	0.26518	1.73	3.36	-2.0	0.07433	.	.	.	.	.	T	0.05044	0.0135	L	0.46157	1.445	0.09310	N	1	B	0.34290	0.447	B	0.29440	0.102	T	0.38134	-0.9675	9	0.13470	T	0.59	.	5.5191	0.16923	0.3277:0.5125:0.1597:0.0	.	456	Q5D862	FILA2_HUMAN	Q	456	ENSP00000373370:H456Q	ENSP00000373370:H456Q	H	-	3	2	FLG2	150595518	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.343000	0.02642	-0.514000	0.06488	0.459000	0.35465	CAT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	154	0	0	0	1	0	4	154				
PTGDS	5730	broad.mit.edu	37	9	139874417	139874417	+	Silent	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:139874417C>T	ENST00000371625.3	+	4	425	c.351C>T	c.(349-351)tcC>tcT	p.S117S	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Silent_p.S151S	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	117					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTACTCCGTGTCAGTGG	0.632																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(451-453)tcC>tcT		prostaglandin D2 synthase 21kDa (brain)							96.0	99.0	98.0					9																	139874417		2203	4300	6503	SO:0001819	synonymous_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874417C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.351C>T	9.37:g.139874417C>T						PTGDS_ENST00000371625.3_Silent_p.S117S	p.S151S			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	4	528	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	117					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	c.453C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	5.877	0.345893	0.11126	.	.	ENSG00000107317	ENST00000446677	.	.	.	4.83	-9.66	0.00534	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08700	-1.0709	4	.	.	.	-2.3179	4.1797	0.10369	0.2255:0.213:0.4371:0.1243	.	.	.	.	C	140	.	.	R	+	1	0	PTGDS	138994238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.763000	0.01802	-3.482000	0.00155	-1.088000	0.02184	CGT		0.632	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		6	127	0	0	0	1	0	6	127				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	105	0	0	0	1	0	5	105				
PROC	5624	broad.mit.edu	37	2	128186098	128186098	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:128186098C>T	ENST00000234071.3	+	9	1049	c.962C>T	c.(961-963)cCg>cTg	p.P321L	PROC_ENST00000453608.2_Missense_Mutation_p.P376L|PROC_ENST00000409048.1_Missense_Mutation_p.P355L|PROC_ENST00000422777.3_Missense_Mutation_p.P321L	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	321	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		P -> L (in THPH3). {ECO:0000269|PubMed:8292730, ECO:0000269|PubMed:8499565}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATCTGCCTCCCGGACAGCGGC	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	GRCh37	CM930618	PROC	M		c.(1126-1128)cCg>cTg		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						97.0	90.0	92.0					2																	128186098		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186098C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.962C>T	2.37:g.128186098C>T	ENSP00000234071:p.Pro321Leu					PROC_ENST00000409048.1_Missense_Mutation_p.P355L|PROC_ENST00000422777.3_Missense_Mutation_p.P321L|PROC_ENST00000234071.3_Missense_Mutation_p.P321L	p.P376L			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1135	+	Colorectal(110;0.1)		321			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1127C>T	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.228254|4.228254	0.79576|0.79576	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.94931|.	-3.56;-3.56;-3.56;-3.56|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.43416|.	D|.	0.000562|.	D|D	0.83238|0.83238	0.5211|0.5211	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.84545|0.84545	0.0641|0.0641	10|5	0.87932|.	D|.	0|.	.|.	19.5099|19.5099	0.95137|0.95137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	376;377;355;321|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	L|W	321;280;376;355;321|96	ENSP00000234071:P321L;ENSP00000404030:P376L;ENSP00000386679:P355L;ENSP00000409543:P321L|.	ENSP00000234071:P321L|.	P|R	+|+	2|1	0|2	PROC|PROC	127902568|127902568	1.000000|1.000000	0.71417|0.71417	0.686000|0.686000	0.30086|0.30086	0.251000|0.251000	0.25915|0.25915	7.671000|7.671000	0.83941|0.83941	2.627000|2.627000	0.88993|0.88993	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		22	52	0	0	0	1	0	22	52				
NSMF	26012	broad.mit.edu	37	9	140347026	140347026	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:140347026C>T	ENST00000371475.3	-	11	1375	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T	NSMF_ENST00000371468.1_3'UTR|NSMF_ENST00000541195.1_Missense_Mutation_p.A179T|NSMF_ENST00000371482.1_Missense_Mutation_p.A46T|NSMF_ENST00000437259.1_Missense_Mutation_p.A359T|NSMF_ENST00000371473.3_Missense_Mutation_p.A352T|NSMF_ENST00000371472.2_Missense_Mutation_p.A380T|NSMF_ENST00000392812.4_Missense_Mutation_p.A359T|NSMF_ENST00000265663.7_Missense_Mutation_p.A380T|NSMF_ENST00000339554.3_Missense_Mutation_p.A179T|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.A357T	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	382					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										TCGAAGGTTGCGTGCTCATGG	0.657																																						ENST00000371475.3																			0											c.(1144-1146)Gca>Aca		NMDA receptor synaptonuclear signaling and neuronal migration factor							60.0	56.0	57.0					9																	140347026		2196	4292	6488	SO:0001583	missense	26012							g.chr9:140347026C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1144G>A	9.37:g.140347026C>T	ENSP00000360530:p.Ala382Thr					NSMF_ENST00000371482.1_Missense_Mutation_p.A46T|NSMF_ENST00000541195.1_Missense_Mutation_p.A179T|NSMF_ENST00000339554.3_Missense_Mutation_p.A179T|NSMF_ENST00000371474.3_Missense_Mutation_p.A357T|NSMF_ENST00000392812.4_Missense_Mutation_p.A359T|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.A359T|NSMF_ENST00000371473.3_Missense_Mutation_p.A352T|NSMF_ENST00000371472.2_Missense_Mutation_p.A380T|NSMF_ENST00000371468.1_3'UTR|NSMF_ENST00000265663.7_Missense_Mutation_p.A380T	p.A382T	NM_001130969.1	NP_001124441.1					11	1375	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.1144G>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854417	0.91355	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.994;0.901;0.933;0.994;0.995;0.992;0.992	T	0.61520	-0.7046	10	0.59425	D	0.04	-11.0978	16.289	0.82738	0.0:1.0:0.0:0.0	.	359;179;133;357;352;382;380	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	T	179;382;380;359;359;357;352;46;380;179	ENSP00000342966:A179T;ENSP00000360530:A382T;ENSP00000265663:A380T;ENSP00000412007:A359T;ENSP00000376559:A359T;ENSP00000360529:A357T;ENSP00000360528:A352T;ENSP00000360537:A46T;ENSP00000360527:A380T;ENSP00000444177:A179T	ENSP00000265663:A380T	A	-	1	0	NELF	139466847	1.000000	0.71417	0.631000	0.29282	0.586000	0.36452	7.439000	0.80444	2.456000	0.83038	0.455000	0.32223	GCA		0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		7	19	0	0	0	1	0	7	19				
EXOC1	55763	broad.mit.edu	37	4	56755065	56755065	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:56755065C>G	ENST00000381295.2	+	11	1690	c.1342C>G	c.(1342-1344)Cga>Gga	p.R448G	EXOC1_ENST00000349598.6_Intron|EXOC1_ENST00000346134.7_Missense_Mutation_p.R448G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	448					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TACACTGCCTCGAAAAGAAAG	0.373																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1342-1344)Cga>Gga		exocyst complex component 1							189.0	168.0	175.0					4																	56755065		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56755065C>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1342C>G	4.37:g.56755065C>G	ENSP00000370695:p.Arg448Gly					EXOC1_ENST00000349598.6_Intron|EXOC1_ENST00000346134.7_Missense_Mutation_p.R448G	p.R448G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			11	1690	+	Glioma(25;0.08)|all_neural(26;0.101)		448					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1342C>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026617	0.75390	.	.	ENSG00000090989	ENST00000381295;ENST00000346134	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.02011	-0.69	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.24225	-1.0166	9	0.15499	T	0.54	.	19.3563	0.94416	0.0:1.0:0.0:0.0	.	448	Q9NV70	EXOC1_HUMAN	G	448	.	ENSP00000326514:R448G	R	+	1	2	EXOC1	56449822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	2.574000	0.86865	0.557000	0.71058	CGA		0.373	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		15	44	0	0	0	1	0	15	44				
LRRC37A2	474170	broad.mit.edu	37	17	44594556	44594556	+	Intron	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr17:44594556G>A	ENST00000576629.1	+	3	3104				ARL17A_ENST00000329240.4_Silent_p.C101C|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000337845.7_Missense_Mutation_p.A190V|LRRC37A2_ENST00000333412.3_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CGGTGACCCCGCATAATTTCT	0.413																																						ENST00000337845.7																			0				lung(1)	1						c.(568-570)gCg>gTg		ADP-ribosylation factor-like 17A																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594556G>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-172G>A	17.37:g.44594556G>A						ARL17A_ENST00000445552.2_Silent_p.C101C|LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000329240.4_Silent_p.C101C	p.A190V			Q8IVW1	ARL17_HUMAN			5	707	-			0					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.569C>T	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.396455|1.396455	0.25205|0.25205	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000337845|ENST00000358484	T|.	0.62639|.	0.01|.	2.51|2.51	0.0229|0.0229	0.14135|0.14135	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	6|5	0.87932|0.87932	D|D	0|0	.|.	4.7532|4.7532	0.13071|0.13071	0.6779:0.0:0.3221:0.0|0.6779:0.0:0.3221:0.0	.|.	.|.	.|.	.|.	V|W	190|125	ENSP00000338611:A190V|.	ENSP00000338611:A190V|ENSP00000351272:R125W	A|R	-|-	2|1	0|2	ARL17A|ARL17A	41949872|41949872	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	-0.566000|-0.566000	0.05922|0.05922	-0.011000|-0.011000	0.14247|0.14247	0.175000|0.175000	0.17021|0.17021	GCG|CGG		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		6	376	0	0	0	1	0	6	376				
SWT1	54823	broad.mit.edu	37	1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:185159704G>T	ENST00000367500.4	+	10	1618	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	485	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAGAACAATGATGATCGAGT	0.363																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1453-1455)Gat>Tat		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							173.0	154.0	160.0					1																	185159704		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185159704G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1453G>T	1.37:g.185159704G>T	ENSP00000356470:p.Asp485Tyr					SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			10	1618	+			485			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1453G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263229	0.80358	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.81163	-1.46;-1.46	5.65	5.65	0.86999	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.93594	3.435	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94051	0.7318	10	0.87932	D	0	.	17.9094	0.88929	0.0:0.0:1.0:0.0	.	485	Q5T5J6	SWT1_HUMAN	Y	485	ENSP00000356471:D485Y;ENSP00000356470:D485Y	ENSP00000356470:D485Y	D	+	1	0	SWT1	183426327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.649000	0.89929	0.655000	0.94253	GAT		0.363	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		10	30	1	0	1.5842e-08	1	1.7728e-08	10	30				
PRKDC	5591	broad.mit.edu	37	8	48776073	48776073	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000338368.3_Silent_p.V1878V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1879					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAATACATCACGTCTAGAA	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5632-5634)gtG>gtT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							168.0	166.0	166.0					8																	48776073		1847	4091	5938	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48776073C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5634G>T	8.37:g.48776073C>A						PRKDC_ENST00000338368.3_Silent_p.V1878V|PRKDC_ENST00000523565.1_5'UTR	p.V1878V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			43	5690	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1879					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.5634G>T																																																																																					0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		35	70	1	0	3.21399e-22	1	3.87328e-22	35	70				
ST3GAL6	10402	broad.mit.edu	37	3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:98487336G>T	ENST00000483910.1	+	2	341	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTCTATTATGTACTGCATTG	0.398																																						ENST00000394162.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(52-54)Gta>Tta		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							253.0	233.0	239.0					3																	98487336		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98487336G>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.52G>T	3.37:g.98487336G>T	ENSP00000417376:p.Val18Leu					ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L	p.V18L	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN			3	519	+			18					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.52G>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702759	0.48307	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254	T;T;T;T	0.50813	0.89;0.88;0.89;0.73	6.06	5.18	0.71444	.	0.361557	0.24398	N	0.038872	T	0.32224	0.0822	L	0.27053	0.805	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.08743	-1.0707	10	0.15066	T	0.55	-6.9906	11.645	0.51255	0.083:0.0:0.917:0.0	.	41;18	C9J480;Q9Y274	.;SIA10_HUMAN	L	18;18;18;18;18;18;18;41	ENSP00000417376:V18L;ENSP00000418896:V18L;ENSP00000377717:V18L;ENSP00000417201:V41L	ENSP00000377717:V18L	V	+	1	0	ST3GAL6	99970026	0.971000	0.33674	0.996000	0.52242	0.981000	0.71138	1.666000	0.37460	2.882000	0.98803	0.655000	0.94253	GTA		0.398	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		41	88	1	0	3.76604e-16	1	4.42509e-16	41	88				
PPP5C	5536	broad.mit.edu	37	19	46891954	46891954	+	Missense_Mutation	SNP	C	C	T	rs376107784	byFrequency	TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:46891954C>T	ENST00000012443.4	+	11	1424	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.R313C	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	441	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCACGGAGGCCGCTGTGTCAC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		18294	0.002		0.0	False		,,,				2504	0.0					ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(1321-1323)Cgc>Tgc		protein phosphatase 5, catalytic subunit		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120.0	106.0	111.0		1255,1321	4.0	1.0	19		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPP5C	NM_001204284.1,NM_006247.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	419/478,441/500	46891954	1,13005	2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46891954C>T		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1321C>T	19.37:g.46891954C>T	ENSP00000012443:p.Arg441Cys					PPP5C_ENST00000391919.1_Missense_Mutation_p.R313C	p.R441C	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	11	1424	+		Ovarian(192;0.0731)|all_neural(266;0.196)	441			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.1321C>T	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245834	0.59103	0.0	1.16E-4	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	D;D	0.83591	-1.74;-1.74	5.09	4.02	0.46733	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.220451	0.36482	N	0.002571	D	0.84723	0.5535	M	0.90542	3.125	0.52501	D	0.999955	D;D	0.65815	0.992;0.995	B;P	0.46049	0.433;0.502	D	0.86303	0.1681	10	0.87932	D	0	-19.8029	5.1405	0.14955	0.2563:0.6361:0.0:0.1076	.	441;441	B2R6R6;P53041	.;PPP5_HUMAN	C	441;428;313	ENSP00000012443:R441C;ENSP00000375786:R313C	ENSP00000012443:R441C	R	+	1	0	PPP5C	51583794	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.142000	0.50601	2.367000	0.80283	0.561000	0.74099	CGC		0.557	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		32	55	0	0	0	1	0	32	55				
GCNT2	2651	broad.mit.edu	37	6	10556756	10556756	+	Intron	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:10556756C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Nonsense_Mutation_p.Q34*|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCAAGCTTCCAAAGGCTAAA	0.373																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(100-102)Caa>Taa		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							98.0	98.0	98.0					6																	10556756		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556756C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26687C>T	6.37:g.10556756C>T						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.Q34*	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	517	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	35						Nonsense_Mutation	SNP	ENST00000379597.3	37	c.100C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	41	9.059488	0.99051	.	.	ENSG00000111846	ENST00000316170	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	17.669	0.88211	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000314844:Q34X	Q	+	1	0	GCNT2	10664742	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	2.868000	0.48436	2.576000	0.86940	0.655000	0.94253	CAA		0.373	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		36	70	0	0	0	1	0	36	70				
LTBP4	8425	broad.mit.edu	37	19	41117233	41117233	+	Silent	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:41117233G>T	ENST00000308370.7	+	16	2187	c.2187G>T	c.(2185-2187)acG>acT	p.T729T	LTBP4_ENST00000204005.9_Silent_p.T692T|LTBP4_ENST00000545697.1_Silent_p.T182T|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000396819.3_Silent_p.T662T|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	729	Cys-rich.|EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGACAACACGGCAGGCTCCT	0.697																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2185-2187)acG>acT		latent transforming growth factor beta binding protein 4							17.0	21.0	19.0					19																	41117233		1931	4125	6056	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41117233G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2187G>T	19.37:g.41117233G>T						LTBP4_ENST00000545697.1_Silent_p.T182T|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.T692T|LTBP4_ENST00000396819.3_Silent_p.T662T	p.T729T	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	2187	+			729			Cys-rich.|EGF-like 7; calcium-binding (Potential).		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.2187G>T																																																																																					0.697	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	16	1	0	3.59834e-05	1	3.75826e-05	6	16				
SPAM1	6677	broad.mit.edu	37	7	123594460	123594460	+	Missense_Mutation	SNP	G	G	A	rs532636427		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr7:123594460G>A	ENST00000439500.1	+	4	1449	c.836G>A	c.(835-837)cGc>cAc	p.R279H	SPAM1_ENST00000340011.5_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	279					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTATGTGCGCAATCGAGTT	0.428																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(835-837)cGc>cAc		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						97.0	90.0	92.0					7																	123594460		2203	4299	6502	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594460G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.836G>A	7.37:g.123594460G>A	ENSP00000402123:p.Arg279His					SPAM1_ENST00000439500.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H	p.R279H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1193	+			279					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.836G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362372	0.95877	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.72624	2.21	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39941	-0.9589	9	.	.	.	-31.722	19.8676	0.96824	0.0:0.0:1.0:0.0	.	279;279	Q8TC30;P38567	.;HYALP_HUMAN	H	279	ENSP00000386028:R279H;ENSP00000417934:R279H;ENSP00000345849:R279H;ENSP00000402123:R279H;ENSP00000223028:R279H	.	R	+	2	0	SPAM1	123381696	1.000000	0.71417	0.021000	0.16686	0.356000	0.29392	7.998000	0.88491	2.941000	0.99782	0.655000	0.94253	CGC		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	104	0	0	0	1	0	4	104				
POLR3A	11128	broad.mit.edu	37	10	79781636	79781636	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr10:79781636G>A	ENST00000372371.3	-	7	1167	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	344					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCTTCAGGCGTTGGACGAAG	0.527																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1030-1032)Cgc>Tgc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							65.0	65.0	65.0					10																	79781636		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781636G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1030C>T	10.37:g.79781636G>A	ENSP00000361446:p.Arg344Cys						p.R344C	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		7	1167	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		344					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1030C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303657	0.81136	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.30182	1.54	5.83	4.88	0.63580	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.78856	-0.2039	9	.	.	.	-21.6339	12.221	0.54433	0.0:0.0:0.6728:0.3272	.	344	O14802	RPC1_HUMAN	C	344	ENSP00000361446:R344C	.	R	-	1	0	POLR3A	79451642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.323000	0.65858	2.755000	0.94549	0.650000	0.86243	CGC		0.527	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		15	29	0	0	0	1	0	15	29				
CUL4A	8451	broad.mit.edu	37	13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr13:113887612A>C	ENST00000375440.4	+	6	718	c.634A>C	c.(634-636)Agc>Cgc	p.S212R	CUL4A_ENST00000451881.1_Missense_Mutation_p.S112R|CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	212					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTGGACCGGAGCCTGTTGCG	0.542																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(334-336)Agc>Cgc		cullin 4A							77.0	70.0	72.0					13																	113887612		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113887612A>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.634A>C	13.37:g.113887612A>C	ENSP00000364589:p.Ser212Arg					CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R|CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R	p.S112R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		6	583	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	212					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.334A>C	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592169	0.86953	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.5	4.5	0.54988	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.69463	2.115	0.80722	D	1	B;B	0.33022	0.394;0.221	B;B	0.41946	0.371;0.265	T	0.75172	-0.3411	10	0.21014	T	0.42	-30.1722	14.1231	0.65203	1.0:0.0:0.0:0.0	.	212;212	Q13619;A8MSH7	CUL4A_HUMAN;.	R	112;112;112;212	ENSP00000364590:S112R;ENSP00000389118:S112R;ENSP00000322132:S112R;ENSP00000364589:S212R	ENSP00000322132:S112R	S	+	1	0	CUL4A	112935613	1.000000	0.71417	0.922000	0.36590	0.991000	0.79684	9.042000	0.93793	1.781000	0.52344	0.459000	0.35465	AGC		0.542	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		13	41	0	0	0	1	0	13	41				
LAIR1	3903	broad.mit.edu	37	19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:54872560C>T	ENST00000391742.2	-	3	479	c.327G>A	c.(325-327)tgG>tgA	p.W109*	LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391743.3_Nonsense_Mutation_p.W91*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	109	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGCTCAGACCATTTAGGGG	0.557																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(271-273)tgG>tgA		leukocyte-associated immunoglobulin-like receptor 1							131.0	125.0	128.0					19																	54872560		2203	4300	6503	SO:0001587	stop_gained	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872560C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.327G>A	19.37:g.54872560C>T	ENSP00000375622:p.Trp109*					LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron	p.W91*			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	553	-	Ovarian(34;0.19)		109			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000391742.2	37	c.273G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437406	0.43224	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	.	.	.	3.01	0.819	0.18785	.	0.182519	0.27289	N	0.020057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4557	0.16590	0.2305:0.5457:0.2238:0.0	.	.	.	.	X	91;109;108;109;102;108	.	ENSP00000319204:W102X	W	-	3	0	LAIR1	59564372	0.642000	0.27260	0.070000	0.20053	0.107000	0.19398	0.274000	0.18680	0.316000	0.23135	0.644000	0.83932	TGG		0.557	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			32	95	0	0	0	1	0	32	95				
CNR1	1268	broad.mit.edu	37	6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	413					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCACAAGAGGGAAACATGCTC	0.562																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1237-1239)Ccc>Tcc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						163.0	147.0	152.0					6																	88853757		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853757G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1237C>T	6.37:g.88853757G>A	ENSP00000441046:p.Pro413Ser					CNR1_ENST00000549890.1_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S	p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4799	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	413					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1237C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.078093	0.00375	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.94	5.07	0.68467	.	0.125415	0.53938	D	0.000051	T	0.09423	0.0232	N	0.19112	0.55	0.52099	D	0.999947	B;B	0.24426	0.103;0.008	B;B	0.25140	0.058;0.003	T	0.08310	-1.0728	10	0.02654	T	1	.	15.1709	0.72872	0.0675:0.0:0.9325:0.0	.	380;413	P21554-3;P21554	.;CNR1_HUMAN	S	413;413;413;413;413;380;413;352	ENSP00000358513:P413S;ENSP00000442689:P413S;ENSP00000441046:P413S;ENSP00000358511:P413S;ENSP00000446819:P413S;ENSP00000420188:P380S;ENSP00000412192:P413S;ENSP00000449549:P352S	ENSP00000358511:P413S	P	-	1	0	CNR1	88910476	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.421000	0.73353	1.518000	0.48934	-0.140000	0.14226	CCC		0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			33	75	0	0	0	1	0	33	75				
ALAS2	212	broad.mit.edu	37	X	55039950	55039950	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1567-1569)caC>caA		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						57.0	48.0	51.0					X																	55039950		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55039950G>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1569C>A	X.37:g.55039950G>T	ENSP00000332369:p.His523Gln					ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	p.H523Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			10	1706	-			523					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1569C>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880685	0.51801	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.90324	-2.65;-2.65;-2.65	5.39	3.62	0.41486	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096119	0.64402	D	0.000001	D	0.92322	0.7564	L	0.55834	1.745	0.50039	D	0.999843	D;D;D	0.63880	0.958;0.992;0.993	D;D;D	0.69142	0.913;0.949;0.962	D	0.89226	0.3574	10	0.29301	T	0.29	-23.0971	10.4925	0.44758	0.1666:0.0:0.8334:0.0	.	486;510;523	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	523;510;486	ENSP00000332369:H523Q;ENSP00000379501:H510Q;ENSP00000337131:H486Q	ENSP00000332369:H523Q	H	-	3	2	ALAS2	55056675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.984000	0.49353	0.581000	0.29539	0.538000	0.68166	CAC		0.572	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		12	7	1	0	0.00010058	1	0.00010058	12	7				
NLRP9	338321	broad.mit.edu	37	19	56223890	56223890	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:56223890C>A	ENST00000332836.2	-	7	2595	c.2568G>T	c.(2566-2568)ggG>ggT	p.G856G	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	856						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2566-2568)ggG>ggT		NLR family, pyrin domain containing 9							99.0	91.0	94.0					19																	56223890		2200	4293	6493	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223890C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2568G>T	19.37:g.56223890C>A							p.G856G	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	7	2595	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	856					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2568G>T	CCDS12934.1																																																																																				0.448	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		10	25	1	0	7.48243e-07	1	7.99259e-07	10	25				
OLFML2B	25903	broad.mit.edu	37	1	161987210	161987210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:161987210G>A	ENST00000294794.3	-	3	949	c.526C>T	c.(526-528)Cga>Tga	p.R176*	OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.R176*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	176					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.R176*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTATCCACTCGCCCCACCAGT	0.443																																						ENST00000294794.3																			1	Substitution - Nonsense(1)	p.R176*(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(526-528)Cga>Tga		olfactomedin-like 2B							110.0	109.0	110.0					1																	161987210		2203	4300	6503	SO:0001587	stop_gained	25903							g.chr1:161987210G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.526C>T	1.37:g.161987210G>A	ENSP00000294794:p.Arg176*					OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.R176*	p.R176*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	949	-	all_hematologic(112;0.156)		176					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Nonsense_Mutation	SNP	ENST00000294794.3	37	c.526C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	39	7.705661	0.98444	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	.	.	.	5.27	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4841	0.55861	0.0:0.0:0.6969:0.3031	.	.	.	.	X	176	.	ENSP00000294794:R176X	R	-	1	2	OLFML2B	160253834	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	6.070000	0.71220	0.770000	0.33336	0.655000	0.94253	CGA		0.443	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		4	151	0	0	0	1	0	4	151				
TLE3	7090	broad.mit.edu	37	15	70352868	70352868	+	Splice_Site	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr15:70352868C>T	ENST00000558939.1	-	9	2092		c.e9+1		TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3						Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGGACGTACGTATCGGCTC	0.627																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e9+1		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							67.0	69.0	69.0					15																	70352868		2050	4190	6240	SO:0001630	splice_region_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70352868C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.714+1G>A	15.37:g.70352868C>T						TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000557907.1_Splice_Site				Q04726	TLE3_HUMAN			9	2092	-								B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	ENST00000558939.1	37		CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590025	0.46214	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6078	0.91272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLE3	68139922	1.000000	0.71417	0.986000	0.45419	0.088000	0.18126	7.726000	0.84824	2.481000	0.83766	0.655000	0.94253	.		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	Intron	21	32	0	0	0	1	0	21	32				
ATR	545	broad.mit.edu	37	3	142281238	142281238	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:142281238G>A	ENST00000350721.4	-	4	1127	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ATR_ENST00000383101.3_Missense_Mutation_p.R336W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	336					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R336W(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GACTTAAGCCGCATGAGCACA	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			2	Substitution - Missense(2)	p.R336W(2)	large_intestine(1)|kidney(1)	NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1006-1008)Cgg>Tgg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							76.0	78.0	78.0					3																	142281238		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281238G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1006C>T	3.37:g.142281238G>A	ENSP00000343741:p.Arg336Trp					ATR_ENST00000383101.3_Missense_Mutation_p.R336W	p.R336W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1127	-			336					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1006C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391280	0.25118	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.68479	-0.33;-0.33	5.46	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.811573	0.10726	N	0.641204	T	0.50446	0.1616	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43294	-0.9400	10	0.56958	D	0.05	0.0107	8.1248	0.30992	0.1544:0.0:0.6422:0.2033	.	336	Q13535	ATR_HUMAN	W	336;336;17	ENSP00000343741:R336W;ENSP00000372581:R336W	ENSP00000343741:R336W	R	-	1	2	ATR	143763928	0.002000	0.14202	0.992000	0.48379	0.950000	0.60333	0.634000	0.24614	1.304000	0.44892	0.591000	0.81541	CGG		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	75	0	0	0	1	0	4	75				
GPX6	257202	broad.mit.edu	37	6	28473512	28473512	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:28473512C>T	ENST00000361902.1	-	4	476	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	143					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGTTCTTTTTCTCCATTCACA	0.463																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(427-429)Gaa>Aaa		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						93.0	98.0	96.0					6																	28473512		2130	4264	6394	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473512C>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.427G>A	6.37:g.28473512C>T	ENSP00000354581:p.Glu143Lys					GPX6_ENST00000474923.1_Intron	p.E143K	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN			4	476	-			143					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.427G>A	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986080	0.35036	.	.	ENSG00000198704	ENST00000361902	T	0.09445	2.98	4.44	3.57	0.40892	Thioredoxin-like fold (2);	0.478704	0.25487	N	0.030338	T	0.03739	0.0106	L	0.46885	1.475	0.80722	D	1	B	0.20164	0.042	B	0.25405	0.06	T	0.19811	-1.0294	10	0.26408	T	0.33	.	6.3379	0.21306	0.0:0.715:0.1865:0.0984	.	143	P59796	GPX6_HUMAN	K	143	ENSP00000354581:E143K	ENSP00000354581:E143K	E	-	1	0	GPX6	28581491	0.990000	0.36364	1.000000	0.80357	0.923000	0.55619	0.869000	0.27996	1.439000	0.47511	0.655000	0.94253	GAA		0.463	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			17	35	0	0	0	1	0	17	35				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	218	1	0	8.12818e-05	1	8.30488e-05	5	218				
MYOT	9499	broad.mit.edu	37	5	137213210	137213210	+	Splice_Site	SNP	G	G	A	rs150293853		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr5:137213210G>A	ENST00000239926.4	+	4	907	c.533G>A	c.(532-534)cGt>cAt	p.R178H	MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Splice_Site_p.R63H|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	178					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.R178H(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTCTAAAGCGTCTAACATAT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		14939	0.0		0.001	False		,,,				2504	0.0					ENST00000239926.4																			1	Substitution - Missense(1)	p.R178H(1)	large_intestine(1)	cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.e4-1		myotilin		G	,HIS/ARG	0,4406		0,0,2203	77.0	77.0	77.0		,533	5.7	1.0	5	dbSNP_134	77	4,8596	3.7+/-12.6	0,4,4296	yes	utr-5,missense-near-splice	MYOT	NM_001135940.1,NM_006790.2	,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,probably-damaging	,178/499	137213210	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137213210G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.532-1G>A	5.37:g.137213210G>A						MYOT_ENST00000515645.1_Splice_Site_p.R63_splice|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR|RP11-381K20.2_ENST00000514616.1_RNA	p.R178_splice	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	907	+			178					A0A4R6|B4DT79	Splice_Site	SNP	ENST00000239926.4	37	c.531_splice	CCDS4194.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.39	3.614239	0.66672	0.0	4.65E-4	ENSG00000120729	ENST00000239926;ENST00000515645	T;T	0.72942	-0.7;-0.68	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	T	0.76212	0.3956	L	0.27053	0.805	0.40095	D	0.976309	D	0.89917	1.0	D	0.65874	0.939	T	0.76296	-0.3011	10	0.42905	T	0.14	.	19.8298	0.96631	0.0:0.0:1.0:0.0	.	178	Q9UBF9	MYOTI_HUMAN	H	178;63	ENSP00000239926:R178H;ENSP00000426281:R63H	ENSP00000239926:R178H	R	+	2	0	MYOT	137241109	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	6.020000	0.70826	2.687000	0.91594	0.591000	0.81541	CGT		0.398	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	Missense_Mutation	6	59	0	0	0	1	0	6	59				
CYP2J2	1573	broad.mit.edu	37	1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:60377936delT	ENST00000371204.3	-	3	464	c.421delA	c.(421-423)actfs	p.T141fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	141					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTGTCAGAGTGAACCTTCTT	0.418																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(421-423)ctfs		cytochrome P450, family 2, subfamily J, polypeptide 2							200.0	169.0	179.0					1																	60377936		2203	4300	6503	SO:0001589	frameshift_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377936delT	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.421delA	1.37:g.60377936delT	ENSP00000360247:p.Thr141fs					CYP2J2_ENST00000492633.1_5'UTR	p.T141fs	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	464	-	all_cancers(7;0.000396)		141					B2RD33|Q8TF13	Frame_Shift_Del	DEL	ENST00000371204.3	37	c.421delA	CCDS613.1																																																																																				0.418	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		9	124						9	124	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			3	3						3	3	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	3						6	3	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	T	-	rs112966887		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:101721933delT	ENST00000318607.5	-	8	2127	c.999delA	c.(997-999)aaafs	p.K333fs	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 1							58.0	53.0	54.0					8																	101721933		2203	4300	6503	SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101721933delT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.999delA	8.37:g.101721933delT	ENSP00000313007:p.Lys333fs					PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs	p.K333fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		8	2127	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		333			RRM 4.		Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	c.999delA	CCDS6289.1																																																																																				0.383	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		11	55						11	55	---	---	---	---
