#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPIH	10465	broad.mit.edu	37	1	43124905	43124905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:43124905C>G	ENST00000304979.3	+	3	160	c.138C>G	c.(136-138)ttC>ttG	p.F46L	PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000372549.1_Missense_Mutation_p.F20L|PPIH_ENST00000455203.2_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	46	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TCAGGCAGTTCTGCACCGGAG	0.483																																					NSCLC(73;23 1942 10718 46854)	uc001chq.2		NA																	0					0						c.(136-138)TTC>TTG		peptidylprolyl isomerase H	L-Proline(DB00172)						220.0	213.0	215.0					1																	43124905		2203	4300	6503	SO:0001583	missense	10465				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding	g.chr1:43124905C>G	AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.138C>G	1.37:g.43124905C>G	ENSP00000306614:p.Phe46Leu					PPIH_uc009vwl.2_5'UTR	p.F46L	NM_006347	NP_006338	O43447	PPIH_HUMAN			3	208	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	46			PPIase cyclophilin-type.		A6NNE7	Missense_Mutation	SNP	ENST00000304979.3	37	c.138C>G	CCDS469.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366704	0.82463	.	.	ENSG00000171960	ENST00000304979;ENST00000440068;ENST00000372549	T;T;T	0.13196	2.61;2.61;2.61	5.27	5.27	0.74061	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.00027	-2.655	0.80722	D	1	B	0.23990	0.095	B	0.30251	0.113	T	0.50092	-0.8868	10	0.02654	T	1	.	16.4369	0.83878	0.0:1.0:0.0:0.0	.	46	O43447	PPIH_HUMAN	L	46;20;20	ENSP00000306614:F46L;ENSP00000402836:F20L;ENSP00000361629:F20L	ENSP00000306614:F46L	F	+	3	2	PPIH	42897492	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.281000	0.58965	2.758000	0.94735	0.561000	0.74099	TTC		0.483	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019778.1	NM_006347		30	120	0	0	0	0	30	120				
GPSM2	29899	broad.mit.edu	37	1	109465042	109465042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:109465042A>G	ENST00000406462.2	+	14	2217	c.1444A>G	c.(1444-1446)Atc>Gtc	p.I482V	GPSM2_ENST00000264126.3_Missense_Mutation_p.I482V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	482					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATTTTAGAAAATCAGTGCAGA	0.318																																						uc010ovc.1		NA																	0				central_nervous_system(1)	1						c.(1444-1446)ATC>GTC		LGN protein							73.0	77.0	76.0					1																	109465042		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109465042A>G	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1444A>G	1.37:g.109465042A>G	ENSP00000385510:p.Ile482Val					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.I482V|GPSM2_uc010ove.1_Missense_Mutation_p.I482V	p.I482V	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	13	1940	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	482					Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.1444A>G	CCDS792.2	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844764	0.32606	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.92911	-3.13;-3.13	6.17	2.48	0.30137	.	0.764123	0.13271	N	0.400518	T	0.67144	0.2862	N	0.22421	0.69	0.23903	N	0.996518	B	0.02656	0.0	B	0.01281	0.0	T	0.55464	-0.8137	10	0.08179	T	0.78	-19.6334	6.9356	0.24464	0.7643:0.0:0.1235:0.1122	.	482	P81274	GPSM2_HUMAN	V	482	ENSP00000385510:I482V;ENSP00000264126:I482V	ENSP00000264126:I482V	I	+	1	0	GPSM2	109266565	0.997000	0.39634	1.000000	0.80357	0.945000	0.59286	1.408000	0.34668	0.156000	0.19299	0.533000	0.62120	ATC		0.318	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		16	19	0	0	0	0	16	19				
KPRP	448834	broad.mit.edu	37	1	152732431	152732431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:152732431G>A	ENST00000606109.1	+	1	395	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KPRP_ENST00000368773.1_Missense_Mutation_p.E123K			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCAGTGCGAAGCGTCACA	0.493																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(367-369)GAA>AAA		keratinocyte proline-rich protein							263.0	249.0	254.0					1																	152732431		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732431G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.367G>A	1.37:g.152732431G>A	ENSP00000475216:p.Glu123Lys						p.E123K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	425	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		123			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.367G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980382	0.34942	.	.	ENSG00000203786	ENST00000368773	T	0.12879	2.64	5.41	2.1	0.27182	.	0.488989	0.17273	N	0.180300	T	0.07954	0.0199	L	0.57536	1.79	0.09310	N	1	P	0.52842	0.956	B	0.43194	0.411	T	0.06625	-1.0816	10	0.72032	D	0.01	-0.7479	13.397	0.60858	0.0:0.5544:0.4456:0.0	.	123	Q5T749	KPRP_HUMAN	K	123	ENSP00000357762:E123K	ENSP00000357762:E123K	E	+	1	0	KPRP	150999055	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	0.987000	0.29603	0.737000	0.32582	0.655000	0.94253	GAA		0.493	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		57	116	0	0	0	0	57	116				
RABGAP1L	9910	broad.mit.edu	37	1	174671345	174671345	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:174671345A>T	ENST00000251507.4	+	17	2294	c.2120A>T	c.(2119-2121)aAg>aTg	p.K707M	RABGAP1L_ENST00000325589.5_Missense_Mutation_p.K14M|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.K34M|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.K33M|RABGAP1L_ENST00000367686.3_3'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTACTGCCAAGTTCCCACTC	0.428																																						uc001gjx.2		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2119-2121)AAG>ATG		RAB GTPase activating protein 1-like isoform A							162.0	141.0	148.0					1																	174671345		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174671345A>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2120A>T	1.37:g.174671345A>T	ENSP00000251507:p.Lys707Met					RABGAP1L_uc001gkb.3_Translation_Start_Site|RABGAP1L_uc001gkc.3_Missense_Mutation_p.K14M|RABGAP1L_uc001gkd.3_Missense_Mutation_p.K33M	p.K707M	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			17	2315	+			707			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.2120A>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882279	0.91740	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000325589;ENST00000367687;ENST00000347255	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.67	5.67	0.87782	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.966;0.994;1.0	P;D;D	0.91635	0.871;0.965;0.999	T	0.32613	-0.9900	10	0.87932	D	0	.	15.9	0.79365	1.0:0.0:0.0:0.0	.	33;34;707	Q5R372-6;Q5R372-5;Q5R372	.;.;RBG1L_HUMAN	M	707;719;14;33;34	ENSP00000251507:K707M;ENSP00000318603:K14M;ENSP00000356660:K33M;ENSP00000281844:K34M	ENSP00000251507:K707M	K	+	2	0	RABGAP1L	172937968	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.166000	0.68216	0.454000	0.30748	AAG		0.428	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		7	52	0	0	0	0	7	52				
SHCBP1L	81626	broad.mit.edu	37	1	182909570	182909570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:182909570C>T	ENST00000367547.3	-	3	900	c.664G>A	c.(664-666)Gag>Aag	p.E222K	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E103K	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	294										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCCAAAATCTCATCAACCAAA	0.403																																						uc001gpu.2		NA																	0					0						c.(664-666)GAG>AAG		chromosome 1 open reading frame 14							104.0	99.0	101.0					1																	182909570		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182909570C>T	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.664G>A	1.37:g.182909570C>T	ENSP00000356518:p.Glu222Lys					C1orf14_uc001gpv.2_Missense_Mutation_p.E103K|C1orf14_uc010pnz.1_Missense_Mutation_p.E80K|C1orf14_uc001gpw.2_5'UTR	p.E222K	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	3	949	-			294					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.664G>A	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262735	0.23051	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.51071	0.72;0.78	4.67	3.76	0.43208	.	0.000000	0.52532	D	0.000065	T	0.49218	0.1544	M	0.61703	1.905	0.09310	N	1	P;P	0.48162	0.675;0.906	B;P	0.46543	0.367;0.52	T	0.46803	-0.9165	10	0.72032	D	0.01	-11.3354	9.9916	0.41874	0.0:0.9025:0.0:0.0975	.	103;222	Q9BZQ2-2;Q9BZQ2-3	.;.	K	222;291;103	ENSP00000356518:E222K;ENSP00000397308:E103K	ENSP00000287709:E291K	E	-	1	0	SHCBP1L	181176193	1.000000	0.71417	0.005000	0.12908	0.039000	0.13416	2.591000	0.46163	0.949000	0.37715	-0.136000	0.14681	GAG		0.403	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		10	76	0	0	0	0	10	76				
OR2L3	391192	broad.mit.edu	37	1	248224417	248224417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:248224417C>T	ENST00000359959.3	+	1	434	c.434C>T	c.(433-435)aCa>aTa	p.T145I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGATGATAACAGGGTCTTGG	0.423																																						uc001idx.1		NA																	0					0						c.(433-435)ACA>ATA		olfactory receptor, family 2, subfamily L,							220.0	238.0	232.0					1																	248224417		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224417C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.434C>T	1.37:g.248224417C>T	ENSP00000353044:p.Thr145Ile					OR2L13_uc001ids.2_Intron	p.T145I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	434	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		145			Helical; Name=4; (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.434C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	2.028	-0.423060	0.04734	.	.	ENSG00000198128	ENST00000359959	T	0.35789	1.29	1.91	-0.259	0.12971	GPCR, rhodopsin-like superfamily (1);	0.549222	0.13531	N	0.380926	T	0.15609	0.0376	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.29150	-1.0021	10	0.16896	T	0.51	.	5.9814	0.19409	0.0:0.6091:0.0:0.3909	.	145	Q8NG85	OR2L3_HUMAN	I	145	ENSP00000353044:T145I	ENSP00000353044:T145I	T	+	2	0	OR2L3	246291040	0.000000	0.05858	0.388000	0.26195	0.047000	0.14425	-0.652000	0.05366	-0.252000	0.09528	-0.355000	0.07637	ACA		0.423	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		11	124	0	0	0	0	11	124				
C10orf67	256815	broad.mit.edu	37	10	23633575	23633575	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:23633575G>T	ENST00000323327.4	-	1	199	c.132C>A	c.(130-132)acC>acA	p.T44T	RP11-371A19.2_ENST00000443224.1_RNA	NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	44										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						CCCGCAGCTCGGTGGCCTTGG	0.597																																						uc010qcx.1		NA																	0					0						c.(130-132)ACC>ACA		hypothetical protein LOC256815							23.0	25.0	24.0					10																	23633575		1929	4123	6052	SO:0001819	synonymous_variant	256815							g.chr10:23633575G>T	BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.132C>A	10.37:g.23633575G>T							p.T44T	NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN			1	198	-			44					A8MUP9|Q5SWD4	Silent	SNP	ENST00000323327.4	37	c.132C>A	CCDS44365.1																																																																																				0.597	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1	NM_153714		3	5	1	0	0.004672	0.00939451	3	5				
SGPL1	8879	broad.mit.edu	37	10	72636950	72636950	+	Splice_Site	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:72636950A>G	ENST00000373202.3	+	15	1766		c.e15-1			NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TTGGATTTGTAGGGTGCCATC	0.483																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2		NA																	0					0						c.e15-2		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						89.0	81.0	84.0					10																	72636950		2203	4300	6503	SO:0001630	splice_region_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72636950A>G	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1567-1A>G	10.37:g.72636950A>G						SGPL1_uc009xqk.2_Splice_Site	p.G523_splice	NM_003901	NP_003892	O95470	SGPL1_HUMAN			15	1789	+								B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Splice_Site	SNP	ENST00000373202.3	37	c.1567_splice	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736345	0.49045	.	.	ENSG00000166224	ENST00000373202	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0221	0.80506	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGPL1	72306956	1.000000	0.71417	0.988000	0.46212	0.283000	0.27025	8.923000	0.92808	2.190000	0.69967	0.528000	0.53228	.		0.483	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	Intron	3	29	0	0	0	0	3	29				
SYNPO2L	79933	broad.mit.edu	37	10	75407893	75407893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:75407893G>A	ENST00000394810.2	-	4	1666	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P282L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	506	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAAGGGGGGTGGGGCGGGGCT	0.677																																						uc001jut.3		NA																	0				ovary(1)	1						c.(1516-1518)CCA>CTA		synaptopodin 2-like isoform a							6.0	9.0	8.0					10																	75407893		2024	3955	5979	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407893G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1517C>T	10.37:g.75407893G>A	ENSP00000378289:p.Pro506Leu					SYNPO2L_uc001jus.3_Missense_Mutation_p.P282L	p.P506L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	1669	-	Prostate(51;0.0112)		506			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1517C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491966	0.26774	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.24538	1.97;1.85;2.29	5.31	3.28	0.37604	.	0.258488	0.38381	N	0.001718	T	0.11965	0.0291	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.14438	0.003;0.01	B;B	0.14023	0.003;0.01	T	0.13469	-1.0508	10	0.33940	T	0.23	-5.0023	5.1145	0.14827	0.1411:0.0:0.6446:0.2143	.	506;282	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	282;506;506	ENSP00000361964:P282L;ENSP00000361963:P506L;ENSP00000378289:P506L	ENSP00000361963:P506L	P	-	2	0	SYNPO2L	75077899	0.939000	0.31865	0.897000	0.35233	0.939000	0.58152	0.809000	0.27168	1.435000	0.47434	0.561000	0.74099	CCA		0.677	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		3	8	0	0	0	0	3	8				
MUC5B	727897	broad.mit.edu	37	11	1270883	1270883	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:1270883C>G	ENST00000529681.1	+	31	12831	c.12773C>G	c.(12772-12774)aCt>aGt	p.T4258S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4261S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4258	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACAGCCACTACGACTGCA	0.677																																						uc009ycr.1		NA																	0					0						c.(14191-14193)ACT>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							99.0	118.0	112.0					11																	1270883		2047	4171	6218	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270883C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12773C>G	11.37:g.1270883C>G	ENSP00000436812:p.Thr4258Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T4261S	p.T4731S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14318	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4258			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14192C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.588	0.293265	0.10567	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17691	2.26;2.45	2.76	1.82	0.25136	.	.	.	.	.	T	0.14614	0.0353	L	0.35341	1.055	0.09310	N	1	B;B	0.27286	0.174;0.174	B;B	0.27262	0.078;0.078	T	0.23013	-1.0200	9	0.87932	D	0	.	11.4051	0.49894	0.0:0.8139:0.186:0.0	.	4731;4261	A7Y9J9;E9PBJ0	.;.	S	4258;4261;4202;4108;37	ENSP00000436812:T4258S;ENSP00000415793:T4261S	ENSP00000343037:T4202S	T	+	2	0	MUC5B	1227459	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.004000	0.03678	0.311000	0.23014	-1.865000	0.00557	ACT		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	63	0	0	0	0	4	63				
CALCB	797	broad.mit.edu	37	11	15098881	15098881	+	Missense_Mutation	SNP	C	C	T	rs369737294		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:15098881C>T	ENST00000533448.1	+	4	385	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	CALCB_ENST00000523376.1_Missense_Mutation_p.R103W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	92					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGTGACTCATCGGCTGGCAGG	0.567																																						uc001mlx.1		NA																	0					0						c.(274-276)CGG>TGG		calcitonin-related polypeptide, beta precursor		C	TRP/ARG	2,4398	4.2+/-10.8	0,2,2198	52.0	51.0	52.0		274	3.9	1.0	11		52	0,8588		0,0,4294	no	missense	CALCB	NM_000728.3	101	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign	92/128	15098881	2,12986	2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15098881C>T		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.274C>T	11.37:g.15098881C>T	ENSP00000433490:p.Arg92Trp					CALCB_uc009ygr.1_Missense_Mutation_p.R92W	p.R92W	NM_000728	NP_000719	P10092	CALCB_HUMAN			4	347	+			92					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.274C>T	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134425	0.56828	4.55E-4	0.0	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26067	1.76;1.76;1.76	4.87	3.94	0.45596	Calcitonin peptide-like (1);Calcitonin, conserved site (1);	0.534244	0.15960	N	0.236301	T	0.46756	0.1409	L	0.56199	1.76	0.41518	D	0.988384	D	0.89917	1.0	D	0.97110	1.0	T	0.42447	-0.9451	10	0.56958	D	0.05	-0.6102	14.7071	0.69200	0.1463:0.8536:0.0:0.0	.	92	P10092	CALCB_HUMAN	W	103;92;92	ENSP00000428882:R103W;ENSP00000346017:R92W;ENSP00000433490:R92W	ENSP00000346017:R92W	R	+	1	2	CALCB	15055457	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	5.704000	0.68347	1.134000	0.42165	0.462000	0.41574	CGG		0.567	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		6	11	0	0	0	0	6	11				
LRRC4C	57689	broad.mit.edu	37	11	40136993	40136993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:40136993G>A	ENST00000278198.2	-	2	2813	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H284Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	284					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGGTCATGAGGCAGTAAT	0.443																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(850-852)CAT>TAT		netrin-G1 ligand precursor							215.0	168.0	184.0					11																	40136993		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136993G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.850C>T	11.37:g.40136993G>A	ENSP00000278198:p.His284Tyr					LRRC4C_uc001mxc.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H280Y	p.H284Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2814	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	284			LRR 9.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.850C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645596	0.47258	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.04959	-0.14	0.80722	D	1	P	0.41569	0.755	B	0.42771	0.397	T	0.23976	-1.0173	10	0.21014	T	0.42	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	284	Q9HCJ2	LRC4C_HUMAN	Y	284	ENSP00000278198:H284Y;ENSP00000436976:H284Y;ENSP00000437132:H284Y;ENSP00000434761:H284Y	ENSP00000278198:H284Y	H	-	1	0	LRRC4C	40093569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CAT		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		37	58	0	0	0	0	37	58				
RAPSN	5913	broad.mit.edu	37	11	47464319	47464319	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:47464319G>C	ENST00000298854.2	-	3	792	c.579C>G	c.(577-579)gtC>gtG	p.V193V	RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000528356.1_5'Flank|RAPSN_ENST00000529341.1_Silent_p.V193V|RAPSN_ENST00000352508.3_Silent_p.V193V|RNU6-1302P_ENST00000516518.1_RNA	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	193					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CATAGTTGTTGACAAGCTCTG	0.612																																						uc001nfi.1		NA																	0				ovary(1)	1						c.(577-579)GTC>GTG		43 kD receptor-associated protein of the synapse							90.0	84.0	86.0					11																	47464319		2201	4298	6499	SO:0001819	synonymous_variant	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47464319G>C		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.579C>G	11.37:g.47464319G>C						RAPSN_uc001nfj.1_Silent_p.V193V|RAPSN_uc009yls.1_Silent_p.V193V	p.V193V	NM_005055	NP_005046	Q13702	RAPSN_HUMAN			3	793	-			193			TPR 4.		Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	c.579C>G	CCDS7936.1																																																																																				0.612	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			13	26	0	0	0	0	13	26				
SORL1	6653	broad.mit.edu	37	11	121384941	121384941	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:121384941C>T	ENST00000260197.7	+	8	1251	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	374					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTATACATCTCAGAGGCAG	0.507																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1120-1122)ATC>ATT		sortilin-related receptor containing LDLR class							110.0	100.0	103.0					11																	121384941		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121384941C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1122C>T	11.37:g.121384941C>T							p.I374I	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	8	1202	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	374			Extracellular (Potential).		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1122C>T	CCDS8436.1																																																																																				0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		6	75	0	0	0	0	6	75				
GAPDH	2597	broad.mit.edu	37	12	6646508	6646508	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:6646508C>T	ENST00000229239.5	+	7	1143	c.477C>T	c.(475-477)ccC>ccT	p.P159P	GAPDH_ENST00000396856.1_Silent_p.P84P|GAPDH_ENST00000396861.1_Silent_p.P159P|GAPDH_ENST00000396859.1_Silent_p.P159P|GAPDH_ENST00000396858.1_Silent_p.P117P|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	159					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						GCTTAGCACCCCTGGCCAAGG	0.577																																						uc001qop.1		NA																	0					0						c.(475-477)CCC>CCT		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						61.0	57.0	58.0					12																	6646508		2203	4300	6503	SO:0001819	synonymous_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646508C>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.477C>T	12.37:g.6646508C>T						GAPDH_uc009zep.1_Silent_p.P117P|GAPDH_uc001qoq.1_Silent_p.P84P|GAPDH_uc001qor.1_Silent_p.P118P|GAPDH_uc001qos.1_Silent_p.P159P|GAPDH_uc001qot.1_Silent_p.P159P|GAPDH_uc001qou.1_Silent_p.P118P|GAPDH_uc001qov.1_Silent_p.P117P|GAPDH_uc001qow.1_Silent_p.P112P|GAPDH_uc001qox.1_5'UTR	p.P159P	NM_002046	NP_002037	P04406	G3P_HUMAN			7	579	+			159					E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	c.477C>T	CCDS8549.1																																																																																				0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		15	39	0	0	0	0	15	39				
SOAT2	8435	broad.mit.edu	37	12	53516948	53516948	+	Silent	SNP	C	C	T	rs201335480		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:53516948C>T	ENST00000301466.3	+	13	1380	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	440					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TCTTCTGCTTCGTCCTGGGGT	0.592																																						uc001sbv.2		NA																	0				ovary(1)	1						c.(1318-1320)TTC>TTT		acyl-CoA:cholesterol acyltransferase 2							257.0	200.0	219.0					12																	53516948		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53516948C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1320C>T	12.37:g.53516948C>T						SOAT2_uc009zms.2_RNA	p.F440F	NM_003578	NP_003569	O75908	SOAT2_HUMAN			13	1408	+			440			Helical; (Potential).		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1320C>T	CCDS8847.1																																																																																				0.592	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			14	37	0	0	0	0	14	37				
RDH16	8608	broad.mit.edu	37	12	57351084	57351084	+	Silent	SNP	G	G	T	rs200490309		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:57351084G>T	ENST00000398138.3	-	1	1019	c.163C>A	c.(163-165)Cgg>Agg	p.R55R	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	55					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GCCAGCACCCGCAAGCCTCGT	0.587																																					GBM(179;741 2921 43105 45298)	uc001smi.3		NA																	0					0						c.(163-165)CGG>AGG		retinol dehydrogenase 16							58.0	63.0	61.0					12																	57351084		2203	4300	6503	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57351084G>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.163C>A	12.37:g.57351084G>T						RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_RNA	p.R55R	NM_003708	NP_003699	O75452	RDH16_HUMAN			1	335	-			55			NAD (By similarity).|Cytoplasmic (Potential).		Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.163C>A	CCDS41797.1																																																																																				0.587	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		10	33	1	0	1.09e-07	2.31e-07	10	33				
NHLRC3	387921	broad.mit.edu	37	13	39618272	39618272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr13:39618272C>G	ENST00000379600.3	+	5	954	c.632C>G	c.(631-633)gCt>gGt	p.A211G	NHLRC3_ENST00000470258.1_Missense_Mutation_p.A14G|NHLRC3_ENST00000379599.2_Missense_Mutation_p.A144G	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	211						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACAGGGCCTGCTAAGTTCAAC	0.403																																						uc001uxc.2		NA																	0				skin(1)	1						c.(631-633)GCT>GGT		NHL repeat containing 3 isoform a							277.0	265.0	269.0					13																	39618272		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39618272C>G		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.632C>G	13.37:g.39618272C>G	ENSP00000368920:p.Ala211Gly					NHLRC3_uc001uxb.1_Missense_Mutation_p.A211G|NHLRC3_uc001uxd.2_Missense_Mutation_p.A144G|NHLRC3_uc001uxe.2_Missense_Mutation_p.A14G	p.A211G	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	5	954	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	211			NHL 3.		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.632C>G	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	7.222	0.597629	0.13875	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599;ENST00000537150	D;T;T	0.89196	-2.48;0.95;0.83	5.88	5.01	0.66863	Six-bladed beta-propeller, TolB-like (1);	0.224150	0.45361	D	0.000365	T	0.69628	0.3132	N	0.00890	-1.11	0.28221	N	0.926511	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.10450	0.002;0.001;0.005	T	0.54642	-0.8263	9	.	.	.	-8.8066	15.3601	0.74464	0.0:0.6999:0.3001:0.0	.	144;211;211	B4DTL0;Q5JS37;B4DRC8	.;NHLC3_HUMAN;.	G	14;211;144;144	ENSP00000418127:A14G;ENSP00000368920:A211G;ENSP00000368919:A144G	.	A	+	2	0	NHLRC3	38516272	0.730000	0.28100	0.993000	0.49108	0.993000	0.82548	1.369000	0.34227	2.779000	0.95612	0.650000	0.86243	GCT		0.403	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		69	80	0	0	0	0	69	80				
OR4K17	390436	broad.mit.edu	37	14	20585923	20585923	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20585923C>G	ENST00000315543.4	+	1	358	c.358C>G	c.(358-360)Cag>Gag	p.Q120E		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTTAAAAAAGCAGAAGGTAAT	0.413																																						uc001vwo.1		NA																	0				skin(3)	3						c.(358-360)CAG>GAG		olfactory receptor, family 4, subfamily K,							119.0	124.0	122.0					14																	20585923		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585923C>G		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.358C>G	14.37:g.20585923C>G	ENSP00000319197:p.Gln120Glu						p.Q120E	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	358	+	all_cancers(95;0.00108)		92			Extracellular (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.358C>G	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	1.820	-0.472412	0.04445	.	.	ENSG00000176230	ENST00000315543	T	0.02916	4.11	2.86	0.296	0.15757	GPCR, rhodopsin-like superfamily (1);	1.427590	0.05371	U	0.535446	T	0.02119	0.0066	N	0.11000	0.08	0.09310	N	1	B	0.20459	0.045	B	0.23275	0.045	T	0.46789	-0.9166	10	0.44086	T	0.13	.	5.8746	0.18822	0.5733:0.2686:0.1581:0.0	.	92	Q8NGC6	OR4KH_HUMAN	E	120	ENSP00000319197:Q120E	ENSP00000319197:Q120E	Q	+	1	0	OR4K17	19655763	0.000000	0.05858	0.005000	0.12908	0.122000	0.20287	-0.164000	0.09983	0.349000	0.23975	0.404000	0.27445	CAG		0.413	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			45	78	0	0	0	0	45	78				
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428																																						uc010tlc.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(1)	3						c.(418-420)CGG>CAG		olfactory receptor, family 11, subfamily H,		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	157.0	158.0		419	5.0	1.0	14	dbSNP_134	158	0,8600		0,0,4300	no	missense	OR11H6	NM_001004480.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/331	20692287	1,13005	2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692287G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.419G>A	14.37:g.20692287G>A	ENSP00000319071:p.Arg140Gln						p.R140Q	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	419	+	all_cancers(95;0.00108)		140			Cytoplasmic (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.419G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403002	0.83230	2.27E-4	0.0	ENSG00000176219	ENST00000315519	T	0.76968	-1.06	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000275	T	0.81955	0.4932	M	0.90309	3.105	0.36994	D	0.894939	P	0.46656	0.882	B	0.40477	0.33	D	0.88855	0.3322	10	0.62326	D	0.03	.	15.7549	0.78015	0.0:0.0:1.0:0.0	.	140	Q8NGC7	O11H6_HUMAN	Q	140	ENSP00000319071:R140Q	ENSP00000319071:R140Q	R	+	2	0	OR11H6	19762127	0.966000	0.33281	1.000000	0.80357	0.901000	0.52897	5.505000	0.66981	2.570000	0.86706	0.442000	0.29010	CGG		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			10	81	0	0	0	0	10	81				
SPATA7	55812	broad.mit.edu	37	14	88892892	88892892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:88892892C>G	ENST00000393545.4	+	6	978	c.689C>G	c.(688-690)tCt>tGt	p.S230C	SPATA7_ENST00000356583.5_Missense_Mutation_p.S198C|SPATA7_ENST00000556553.1_Missense_Mutation_p.S198C|SPATA7_ENST00000045347.7_Missense_Mutation_p.S230C	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	230					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GATAAACATTCTGAACTCTTT	0.428																																						uc001xwq.2		NA																	0				ovary(1)	1						c.(688-690)TCT>TGT		spermatogenesis-associated protein 7 isoform a							63.0	65.0	64.0					14																	88892892		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892892C>G	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.689C>G	14.37:g.88892892C>G	ENSP00000377176:p.Ser230Cys					SPATA7_uc001xwr.2_Missense_Mutation_p.S198C|SPATA7_uc001xws.2_Missense_Mutation_p.S166C|SPATA7_uc001xwt.2_Missense_Mutation_p.S124C|SPATA7_uc001xwu.2_5'Flank	p.S230C	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			6	840	+			230					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.689C>G	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273311	0.80580	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.34	5.34	0.76211	.	0.482935	0.21704	N	0.070361	T	0.56217	0.1970	M	0.71581	2.175	0.33314	D	0.566499	D;D;D	0.76494	0.991;0.999;0.991	P;D;P	0.68483	0.849;0.958;0.81	T	0.67158	-0.5741	10	0.87932	D	0	-6.4592	18.1813	0.89779	0.0:1.0:0.0:0.0	.	198;198;230	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	C	198;230;198;216;230	ENSP00000451128:S198C;ENSP00000377176:S230C;ENSP00000348991:S198C;ENSP00000450606:S216C;ENSP00000045347:S230C	ENSP00000045347:S230C	S	+	2	0	SPATA7	87962645	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.816000	0.69222	2.642000	0.89623	0.650000	0.86243	TCT		0.428	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			15	51	0	0	0	0	15	51				
DYNC1H1	1778	broad.mit.edu	37	14	102502847	102502847	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:102502847C>A	ENST00000360184.4	+	57	10940	c.10776C>A	c.(10774-10776)ccC>ccA	p.P3592P	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3592	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATTGACCCCTCTGGACAGG	0.488																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10774-10776)CCC>CCA		cytoplasmic dynein 1 heavy chain 1							114.0	109.0	111.0					14																	102502847		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102502847C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10776C>A	14.37:g.102502847C>A							p.P3592P	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			57	10940	+			3592			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.10776C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787658	0.49997	.	.	ENSG00000197102	ENST00000553423	.	.	.	5.83	3.77	0.43336	.	.	.	.	.	T	0.47377	0.1442	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43540	-0.9385	4	.	.	.	.	3.4696	0.07562	0.1636:0.5489:0.1597:0.1278	.	.	.	.	I	68	.	.	L	+	1	0	DYNC1H1	101572600	0.964000	0.33143	1.000000	0.80357	0.937000	0.57800	0.107000	0.15375	1.463000	0.47967	0.655000	0.94253	CTC		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		13	67	1	0	0.00185496	0.00375024	13	67				
BTBD1	53339	broad.mit.edu	37	15	83710628	83710628	+	Silent	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr15:83710628A>G	ENST00000261721.4	-	4	916	c.714T>C	c.(712-714)agT>agC	p.S238S	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Silent_p.S238S|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'Flank|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	238					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CAAAAAGTCGACTTTCTCGAA	0.373																																						uc002bjn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(712-714)AGT>AGC		BTB (POZ) domain containing 1 isoform 1							116.0	110.0	112.0					15																	83710628		2203	4300	6503	SO:0001819	synonymous_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83710628A>G	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.714T>C	15.37:g.83710628A>G						BTBD1_uc002bjo.2_Silent_p.S238S	p.S238S	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	4	917	-			238					A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	ENST00000261721.4	37	c.714T>C	CCDS10322.1																																																																																				0.373	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			18	39	0	0	0	0	18	39				
TNRC6A	27327	broad.mit.edu	37	16	24801106	24801106	+	Silent	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:24801106A>G	ENST00000395799.3	+	6	1272	c.1143A>G	c.(1141-1143)aaA>aaG	p.K381K	TNRC6A_ENST00000315183.7_Silent_p.K381K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	381	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTGCCCTAAAAGGGCCTGTAG	0.428																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(1141-1143)AAA>AAG		trinucleotide repeat containing 6A							81.0	89.0	86.0					16																	24801106		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801106A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1143A>G	16.37:g.24801106A>G						TNRC6A_uc010bxs.2_Silent_p.K128K|TNRC6A_uc010vcc.1_Silent_p.K128K|TNRC6A_uc002dmn.2_Silent_p.K128K|TNRC6A_uc002dmo.2_Silent_p.K128K	p.K381K	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1257	+			381			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.1143A>G	CCDS10624.2																																																																																				0.428	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		3	57	0	0	0	0	3	57				
SLC5A2	6524	broad.mit.edu	37	16	31500299	31500299	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:31500299C>G	ENST00000330498.3	+	11	1398	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	460					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CAGGCAGTCTCTAGCTACCTG	0.662																																						uc002ecf.3		NA																	0				ovary(1)	1						c.(1378-1380)TCT>TGT		solute carrier family 5 (sodium/glucose							47.0	43.0	44.0					16																	31500299		2197	4299	6496	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500299C>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1379C>G	16.37:g.31500299C>G	ENSP00000327943:p.Ser460Cys					SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	p.S460C	NM_003041	NP_003032	P31639	SC5A2_HUMAN			11	1398	+			460			Helical; (Potential).		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1379C>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549119	0.86127	.	.	ENSG00000140675	ENST00000330498	D	0.88586	-2.4	4.89	4.89	0.63831	.	0.129123	0.53938	D	0.000047	D	0.92570	0.7640	M	0.62723	1.935	0.54753	D	0.999984	D	0.69078	0.997	D	0.63113	0.911	D	0.93165	0.6561	10	0.72032	D	0.01	.	15.5975	0.76599	0.0:1.0:0.0:0.0	.	460	P31639	SC5A2_HUMAN	C	460	ENSP00000327943:S460C	ENSP00000327943:S460C	S	+	2	0	SLC5A2	31407800	0.726000	0.28059	0.998000	0.56505	0.716000	0.41182	1.621000	0.36986	2.549000	0.85964	0.561000	0.74099	TCT		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	18	0	0	0	0	10	18				
CNEP1R1	255919	broad.mit.edu	37	16	50063658	50063658	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:50063658C>G	ENST00000427478.2	+	3	174	c.120C>G	c.(118-120)gtC>gtG	p.V40V	CNEP1R1_ENST00000458059.3_Silent_p.V57V|CNEP1R1_ENST00000565556.1_Silent_p.V8V|CNEP1R1_ENST00000562576.1_Silent_p.V40V	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	40					lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TGGTATCTGTCTGTACAGCTA	0.338																																						uc002efu.2		NA																	0					0						c.(118-120)GTC>GTG		SubName: Full=TMP125; SubName: Full=Putative uncharacterized protein FLJ38101;							197.0	178.0	184.0					16																	50063658		1876	4092	5968	SO:0001819	synonymous_variant	255919					integral to membrane		g.chr16:50063658C>G	AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"""nuclear envelope phosphatase 1-regulatory subunit 1"""		"""chromosome 16 open reading frame 69"", ""transmembrane protein 188"""	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.120C>G	16.37:g.50063658C>G						TMEM188_uc002eft.2_Silent_p.V57V|TMEM188_uc002efv.2_Intron	p.V40V			Q8N9A8	TM188_HUMAN			3	158	+			40			Helical; (Potential).		Q4G1A9|Q5H9V0|Q8NE06	Silent	SNP	ENST00000427478.2	37	c.120C>G																																																																																					0.338	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153261		3	35	0	0	0	0	3	35				
TP53	7157	broad.mit.edu	37	17	7578549	7578550	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578549_7578550GG>AA	ENST00000269305.4	-	5	569_570	c.380_381CC>TT	c.(379-381)tCC>tTT	p.S127F	TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000420246.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGGCAGGGGAGTACTGTAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		74	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)|Substitution - coding silent(1)	p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(2)|liver(2)|oesophagus(2)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(379-381)TCC>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578549_7578550GG>AA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380_381delinsAA	17.37:g.7578549_7578550delinsAA	ENSP00000269305:p.Ser127Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.2_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88F	p.S127F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	574_575	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	DNP	ENST00000269305.4	37	c.380_381CC>TT	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	11	0	0	0	0	10	11				
RARA	5914	broad.mit.edu	37	17	38508322	38508322	+	Splice_Site	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:38508322G>A	ENST00000254066.5	+	5	1085	c.630G>A	c.(628-630)acG>acA	p.T210T	RARA_ENST00000394086.3_Splice_Site_p.T226T|RARA_ENST00000425707.3_Splice_Site_p.T113T|RARA_ENST00000394089.2_Splice_Site_p.T210T|RARA_ENST00000394081.3_Splice_Site_p.T205T|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	210	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATACACTACGGTATGGCTTT	0.632			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NA		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		0				ovary(1)|lung(1)|breast(1)	3						c.(628-630)ACG>ACA		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						25.0	24.0	24.0					17																	38508322		2203	4299	6502	SO:0001630	splice_region_variant	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38508322G>A	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.630+1G>A	17.37:g.38508322G>A						RARA_uc002hul.3_Silent_p.T210T|RARA_uc010wfe.1_Silent_p.T113T|RARA_uc002hun.1_Silent_p.T205T	p.T210T	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		5	1085	+		Breast(137;0.00328)	210			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	c.630G>A	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737771	0.30774	.	.	ENSG00000131759	ENST00000319149	.	.	.	4.41	4.41	0.53225	.	0.462809	0.24470	N	0.038255	T	0.56645	0.1999	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52487	-0.8569	6	0.27785	T	0.31	.	9.6195	0.39712	0.0998:0.0:0.9002:0.0	.	.	.	.	Q	204	.	ENSP00000316769:R204Q	R	+	2	0	RARA	35761848	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.777000	0.62361	1.997000	0.58415	0.313000	0.20887	CGA		0.632	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2		Silent	4	4	0	0	0	0	4	4				
EPX	8288	broad.mit.edu	37	17	56280505	56280505	+	Missense_Mutation	SNP	G	G	A	rs149971221	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:56280505G>A	ENST00000225371.5	+	11	1882	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	591					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGCTTAGCCGGGTGCTGAAA	0.542																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(1771-1773)CGG>CAG		eosinophil peroxidase preproprotein		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	85.0	88.0	87.0		1772	-6.2	0.1	17	dbSNP_134	87	0,8600		0,0,4300	yes	missense	EPX	NM_000502.4	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	591/716	56280505	4,13002	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56280505G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1772G>A	17.37:g.56280505G>A	ENSP00000225371:p.Arg591Gln						p.R591Q	NM_000502	NP_000493	P11678	PERE_HUMAN			11	1858	+			591					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1772G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498074	0.26861	9.08E-4	0.0	ENSG00000121053	ENST00000225371	T	0.72615	-0.67	5.83	-6.24	0.02046	.	0.521699	0.21708	N	0.070314	T	0.43634	0.1256	N	0.25060	0.705	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16100	-1.0414	10	0.25751	T	0.34	-5.8093	4.7012	0.12828	0.5496:0.101:0.2468:0.1026	.	591	P11678	PERE_HUMAN	Q	591	ENSP00000225371:R591Q	ENSP00000225371:R591Q	R	+	2	0	EPX	53635504	0.000000	0.05858	0.067000	0.19924	0.994000	0.84299	-6.598000	0.00060	-1.611000	0.01581	-0.254000	0.11334	CGG		0.542	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		49	50	0	0	0	0	49	50				
ABCA9	10350	broad.mit.edu	37	17	67020425	67020425	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:67020425G>T	ENST00000340001.4	-	17	2422	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A	ABCA9_ENST00000453985.2_Silent_p.A737A|ABCA9_ENST00000370732.2_Silent_p.A737A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	737					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGTCAATTTGGCATCAGAGA	0.323																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(2209-2211)GCC>GCA		ATP-binding cassette, sub-family A, member 9							74.0	65.0	68.0					17																	67020425		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67020425G>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2211C>A	17.37:g.67020425G>T						ABCA9_uc010dez.2_Silent_p.A737A	p.A737A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			17	2354	-	Breast(10;1.47e-12)		737					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2211C>A	CCDS11681.1																																																																																				0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		6	15	1	0	0.00116845	0.00238825	6	15				
MC2R	4158	broad.mit.edu	37	18	13885087	13885087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:13885087A>G	ENST00000327606.3	-	2	611	c.431T>C	c.(430-432)aTg>aCg	p.M144T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	144					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTGCGGCGCATGGTCACGAT	0.582																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(430-432)ATG>ACG		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						121.0	95.0	104.0					18																	13885087		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885087A>G		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.431T>C	18.37:g.13885087A>G	ENSP00000333821:p.Met144Thr						p.M144T	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	608	-			144			Cytoplasmic (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.431T>C	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278894	0.23307	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.71341	-0.56	5.28	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.294995	0.40818	N	0.001011	T	0.50446	0.1616	N	0.24115	0.695	0.32980	D	0.523487	B	0.09022	0.002	B	0.14023	0.01	T	0.48801	-0.9003	10	0.54805	T	0.06	.	5.1213	0.14862	0.7114:0.0:0.1567:0.1319	.	144	Q01718	ACTHR_HUMAN	T	144	ENSP00000333821:M144T	ENSP00000333821:M144T	M	-	2	0	MC2R	13875087	0.918000	0.31147	0.992000	0.48379	0.897000	0.52465	2.576000	0.46033	0.281000	0.22233	0.533000	0.62120	ATG		0.582	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			20	21	0	0	0	0	20	21				
TSHZ1	10194	broad.mit.edu	37	18	73000485	73000485	+	Silent	SNP	C	C	T	rs147097201		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:73000485C>T	ENST00000580243.1	+	2	3471	c.3123C>T	c.(3121-3123)ctC>ctT	p.L1041L	TSHZ1_ENST00000322038.5_Silent_p.L996L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1041					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGTAAGCTCTGCAACCGGA	0.527																																						uc002lly.2		NA																	0					0						c.(2986-2988)CTC>CTT		teashirt family zinc finger 1							76.0	80.0	79.0					18																	73000485		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000485C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3123C>T	18.37:g.73000485C>T							p.L996L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3551	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	1041			C2H2-type 5.		O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2988C>T																																																																																					0.527	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		20	39	0	0	0	0	20	39				
ASNA1	439	broad.mit.edu	37	19	12856229	12856229	+	Silent	SNP	C	C	T	rs567513195	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:12856229C>T	ENST00000591090.1	+	4	450	c.348C>T	c.(346-348)gaC>gaT	p.D116D	ASNA1_ENST00000357332.3_Silent_p.D116D					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						AGCTGCCTGACGAGTTCTTCG	0.612													C|||	10	0.00199681	0.0	0.0	5008	,	,		18514	0.0		0.0	False		,,,				2504	0.0102					uc002muv.2		NA																	0				ovary(2)	2						c.(346-348)GAC>GAT		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						63.0	55.0	58.0					19																	12856229		2203	4300	6503	SO:0001819	synonymous_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856229C>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.348C>T	19.37:g.12856229C>T						ASNA1_uc002muw.2_Silent_p.D115D	p.D116D	NM_004317	NP_004308	O43681	ASNA_HUMAN			3	362	+			116						Silent	SNP	ENST00000591090.1	37	c.348C>T	CCDS32920.1																																																																																				0.612	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		8	20	0	0	0	0	8	20				
NCAN	1463	broad.mit.edu	37	19	19338829	19338829	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:19338829G>C	ENST00000252575.6	+	8	2499	c.2400G>C	c.(2398-2400)ggG>ggC	p.G800G	NCAN_ENST00000538881.1_Silent_p.G251G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	800					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCCCCCTGGGGAGCCCTGGAG	0.567																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(2398-2400)GGG>GGC		chondroitin sulfate proteoglycan 3 precursor							43.0	50.0	48.0					19																	19338829		2202	4300	6502	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338829G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2400G>C	19.37:g.19338829G>C						NCAN_uc010ecc.1_Silent_p.G364G	p.G800G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2499	+			800					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2400G>C	CCDS12397.1																																																																																				0.567	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		11	136	0	0	0	0	11	136				
PRKCG	5582	broad.mit.edu	37	19	54395868	54395868	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:54395868G>A	ENST00000263431.3	+	7	1074	c.792G>A	c.(790-792)tcG>tcA	p.S264S	PRKCG_ENST00000536044.1_Silent_p.S264S|PRKCG_ENST00000540413.1_Silent_p.S264S|PRKCG_ENST00000542049.1_Silent_p.S151S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	264					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTGGCGTCTCGGAGCTGCTCA	0.642																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(790-792)TCG>TCA		protein kinase C, gamma							44.0	38.0	40.0					19																	54395868		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395868G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.792G>A	19.37:g.54395868G>A						PRKCG_uc010eqz.1_Silent_p.S264S|PRKCG_uc010yef.1_Silent_p.S264S|PRKCG_uc010yeg.1_Silent_p.S264S|PRKCG_uc010yeh.1_Silent_p.S151S	p.S264S	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1074	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		264					B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.792G>A	CCDS12867.1																																																																																				0.642	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		7	9	0	0	0	0	7	9				
ROCK2	9475	broad.mit.edu	37	2	11347878	11347878	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:11347878C>T	ENST00000315872.6	-	20	2971	c.2523G>A	c.(2521-2523)ttG>ttA	p.L841L	ROCK2_ENST00000401753.1_Silent_p.L598L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	841					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGTTTTTCCAAGTTCATTT	0.303																																						uc002rbd.1		NA																	0				stomach(2)|skin(2)	4						c.(2521-2523)TTG>TTA		Rho-associated, coiled-coil containing protein							151.0	134.0	139.0					2																	11347878		1827	4080	5907	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11347878C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2523G>A	2.37:g.11347878C>T							p.L841L	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	20	2972	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		841			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.2523G>A	CCDS42654.1																																																																																				0.303	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			5	27	0	0	0	0	5	27				
FAM49A	81553	broad.mit.edu	37	2	16734259	16734259	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:16734259G>C	ENST00000381323.3	-	12	1137	c.917C>G	c.(916-918)aCa>aGa	p.T306R	FAM49A_ENST00000406434.1_Missense_Mutation_p.T306R|FAM49A_ENST00000355549.2_Missense_Mutation_p.T306R	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	306						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAGTGCTTTGTAGTGAACCT	0.438																																						uc010exm.1		NA																	0					0						c.(916-918)ACA>AGA		family with sequence similarity 49, member A							214.0	189.0	197.0					2																	16734259		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16734259G>C	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.917C>G	2.37:g.16734259G>C	ENSP00000370724:p.Thr306Arg					FAM49A_uc002rck.1_Missense_Mutation_p.T306R	p.T306R	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		11	1065	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		306					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.917C>G	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902877	0.92035	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.57273	0.41;0.41;0.41	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.81540	-0.0886	10	0.87932	D	0	-12.1877	19.1332	0.93415	0.0:0.0:1.0:0.0	.	306	Q9H0Q0	FA49A_HUMAN	R	306	ENSP00000370724:T306R;ENSP00000384771:T306R;ENSP00000347744:T306R	ENSP00000347744:T306R	T	-	2	0	FAM49A	16597740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.840000	0.97914	0.655000	0.94253	ACA		0.438	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		8	44	0	0	0	0	8	44				
EIF2AK2	5610	broad.mit.edu	37	2	37347201	37347201	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:37347201G>A	ENST00000233057.4	-	13	1471	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	EIF2AK2_ENST00000405334.1_Silent_p.G342G|EIF2AK2_ENST00000395127.2_Silent_p.G383G	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	383	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTAGTTTCTCGCCTCTTCTTT	0.343																																						uc010ynh.1		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(1147-1149)GGC>GGT		eukaryotic translation initiation factor 2-alpha							93.0	90.0	91.0					2																	37347201		2202	4300	6502	SO:0001819	synonymous_variant	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37347201G>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1149C>T	2.37:g.37347201G>A						EIF2AK2_uc010fab.1_Silent_p.G342G|EIF2AK2_uc010yng.1_Silent_p.G383G|EIF2AK2_uc010fac.2_Silent_p.G383G|EIF2AK2_uc010fad.2_Silent_p.G330G	p.G383G	NM_002759	NP_002750	P19525	E2AK2_HUMAN			13	1706	-		all_hematologic(82;0.248)	383			Protein kinase.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Silent	SNP	ENST00000233057.4	37	c.1149C>T	CCDS1786.1																																																																																				0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		7	33	0	0	0	0	7	33				
LRPPRC	10128	broad.mit.edu	37	2	44204310	44204310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:44204310T>C	ENST00000260665.7	-	4	632	c.575A>G	c.(574-576)aAc>aGc	p.N192S	LRPPRC_ENST00000409946.1_Missense_Mutation_p.N192S|LRPPRC_ENST00000409659.1_Missense_Mutation_p.N192S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	192					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGTTGAATGTTTGCTTCCTC	0.289																																						uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(574-576)AAC>AGC		leucine-rich PPR motif-containing protein							109.0	103.0	105.0					2																	44204310		2202	4298	6500	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44204310T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.575A>G	2.37:g.44204310T>C	ENSP00000260665:p.Asn192Ser					LRPPRC_uc010yob.1_Missense_Mutation_p.N92S|LRPPRC_uc010faw.1_Missense_Mutation_p.N166S	p.N192S	NM_133259	NP_573566	P42704	LPPRC_HUMAN			4	633	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	192			PPR 2.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.575A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596495	0.66332	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.64991	0.44;0.45;0.44;-0.13	5.44	5.44	0.79542	.	0.039033	0.85682	D	0.000000	T	0.74696	0.3750	L	0.54908	1.71	0.53688	D	0.999975	D;P;D	0.71674	0.998;0.782;0.982	D;P;P	0.71656	0.974;0.727;0.664	T	0.76102	-0.3082	10	0.54805	T	0.06	-2.2933	15.7818	0.78267	0.0:0.0:0.0:1.0	.	92;166;192	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	S	92;192;192;192;166	ENSP00000260665:N192S;ENSP00000386234:N192S;ENSP00000386562:N192S;ENSP00000403637:N166S	ENSP00000260665:N192S	N	-	2	0	LRPPRC	44057814	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.245000	0.72398	2.192000	0.70111	0.397000	0.26171	AAC		0.289	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		25	29	0	0	0	0	25	29				
MRPL53	116540	broad.mit.edu	37	2	74699750	74699750	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74699750A>G	ENST00000258105.7	-	1	699	c.38T>C	c.(37-39)gTc>gCc	p.V13A	MRPL53_ENST00000409710.1_Missense_Mutation_p.V13A	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	13						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						AACCTGTTTGACAGGCCGCAG	0.592																																						uc002sln.2		NA																	0					0						c.(37-39)GTC>GCC		mitochondrial ribosomal protein L53 precursor							80.0	72.0	75.0					2																	74699750		2203	4300	6503	SO:0001583	missense	116540					mitochondrion|ribosome		g.chr2:74699750A>G	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.38T>C	2.37:g.74699750A>G	ENSP00000258105:p.Val13Ala					CCDC142_uc002slo.2_RNA	p.V13A	NM_053050	NP_444278	Q96EL3	RM53_HUMAN			1	178	-			13						Missense_Mutation	SNP	ENST00000258105.7	37	c.38T>C	CCDS1944.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697746	0.48307	.	.	ENSG00000204822	ENST00000258105;ENST00000409710	T;T	0.63744	0.16;-0.06	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.77029	-0.2739	10	0.72032	D	0.01	-34.7065	11.3777	0.49737	1.0:0.0:0.0:0.0	.	13	Q96EL3	RM53_HUMAN	A	13	ENSP00000258105:V13A;ENSP00000386920:V13A	ENSP00000258105:V13A	V	-	2	0	MRPL53	74553258	0.836000	0.29430	0.731000	0.30826	0.007000	0.05969	4.445000	0.60007	2.174000	0.68829	0.533000	0.62120	GTC		0.592	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		6	56	0	0	0	0	6	56				
DQX1	165545	broad.mit.edu	37	2	74754072	74754072	+	5'Flank	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74754072T>C	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R398G|DQX1_ENST00000495597.1_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCTCACCTTCTTGCGTATTCA	0.507																																						uc010yrx.1		NA																	0					0						c.(1363-1365)AGA>GGA		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							79.0	83.0	81.0					2																	74754072		1963	4141	6104	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754072T>C	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754072T>C	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.R131G|AUP1_uc002smf.2_Missense_Mutation_p.R398G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.R307G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank	p.R455G			Q9Y679	AUP1_HUMAN			10	1489	-			464			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1363A>G	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976673	0.53720	.	.	ENSG00000115307	ENST00000377526;ENST00000258081	.	.	.	5.36	2.9	0.33743	.	0.051694	0.85682	D	0.000000	T	0.68559	0.3014	L	0.57536	1.79	0.54753	D	0.999986	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.991;0.997	T	0.69551	-0.5115	9	0.87932	D	0	.	9.1708	0.37081	0.0:0.0:0.3915:0.6085	.	455;464;398	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	G	398;462	.	ENSP00000258081:R462G	R	-	1	2	AUP1	74607580	0.999000	0.42202	0.831000	0.32960	0.989000	0.77384	3.341000	0.52151	1.015000	0.39444	0.533000	0.62120	AGA		0.507	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		32	55	0	0	0	0	32	55				
POLR1A	25885	broad.mit.edu	37	2	86255166	86255166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:86255166G>A	ENST00000263857.6	-	33	5282	c.4904C>T	c.(4903-4905)gCg>gTg	p.A1635V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A1574V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1635					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGGTCGACCGCGATGCCTGT	0.542																																						uc002sqs.2		NA																	0				ovary(2)|skin(1)	3						c.(4903-4905)GCG>GTG		DNA-directed RNA polymerase I A							94.0	109.0	104.0					2																	86255166		2087	4218	6305	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86255166G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4904C>T	2.37:g.86255166G>A	ENSP00000263857:p.Ala1635Val					POLR1A_uc010ytb.1_Missense_Mutation_p.A1001V	p.A1635V	NM_015425	NP_056240	O95602	RPA1_HUMAN			33	5283	-			1635					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4904C>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288617	0.40494	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68025	-0.3;-0.3	5.11	3.16	0.36331	RNA polymerase Rpb1, domain 5 (1);	0.177429	0.48767	D	0.000175	T	0.48624	0.1510	L	0.41710	1.295	0.27474	N	0.952791	B	0.29115	0.233	B	0.17722	0.019	T	0.33240	-0.9876	10	0.30854	T	0.27	-11.9047	5.0941	0.14723	0.1112:0.0:0.3613:0.5274	.	1635	O95602	RPA1_HUMAN	V	1635;1574	ENSP00000263857:A1635V;ENSP00000386300:A1574V	ENSP00000263857:A1635V	A	-	2	0	POLR1A	86108677	0.951000	0.32395	0.734000	0.30879	0.258000	0.26162	2.247000	0.43151	1.151000	0.42436	0.491000	0.48974	GCG		0.542	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		8	28	0	0	0	0	8	28				
NEB	4703	broad.mit.edu	37	2	152426612	152426612	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:152426612A>C	ENST00000172853.10	-	81	12457	c.12310T>G	c.(12310-12312)Tac>Gac	p.Y4104D	NEB_ENST00000604864.1_Missense_Mutation_p.Y5805D|NEB_ENST00000427231.2_Missense_Mutation_p.Y5805D|NEB_ENST00000603639.1_Missense_Mutation_p.Y5805D|NEB_ENST00000397345.3_Missense_Mutation_p.Y5805D|NEB_ENST00000409198.1_Missense_Mutation_p.Y4104D			P20929	NEBU_HUMAN	nebulin	4104					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCAGTTCGTAGGCCTTCTTG	0.507																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(12310-12312)TAC>GAC		nebulin isoform 3							40.0	40.0	40.0					2																	152426612		2059	4189	6248	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152426612A>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12310T>G	2.37:g.152426612A>C	ENSP00000172853:p.Tyr4104Asp					NEB_uc002txr.2_Missense_Mutation_p.Y527D	p.Y4104D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12501	-			4104			Nebulin 112.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12310T>G		.	.	.	.	.	.	.	.	.	.	A	20.1	3.940966	0.73557	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.77351	-0.2620	10	0.59425	D	0.04	.	16.4101	0.83708	1.0:0.0:0.0:0.0	.	4104;535	P20929;Q14215	NEBU_HUMAN;.	D	4104;5805;5805;153;535;4104	ENSP00000386259:Y4104D;ENSP00000380505:Y5805D;ENSP00000416578:Y5805D;ENSP00000410961:Y535D;ENSP00000172853:Y4104D	ENSP00000172853:Y4104D	Y	-	1	0	NEB	152134858	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	2.280000	0.76307	0.460000	0.39030	TAC		0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		2	9	0	0	0	0	2	9				
LRP2	4036	broad.mit.edu	37	2	170099508	170099508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:170099508C>T	ENST00000263816.3	-	24	3910	c.3625G>A	c.(3625-3627)Ggt>Agt	p.G1209S	LRP2_ENST00000443831.1_Missense_Mutation_p.G1072S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1209	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCAAAAACACCATCACAACGA	0.398																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3625-3627)GGT>AGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						161.0	154.0	156.0					2																	170099508		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099508C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3625G>A	2.37:g.170099508C>T	ENSP00000263816:p.Gly1209Ser					LRP2_uc010zdf.1_Missense_Mutation_p.G1072S	p.G1209S	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	24	3838	-			1209			LDL-receptor class A 12.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3625G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497470	0.96355	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96774	-4.12;-4.12	5.76	5.76	0.90799	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98336	1.0536	10	0.66056	D	0.02	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1072;1209	E9PC35;P98164	.;LRP2_HUMAN	S	1209;1072	ENSP00000263816:G1209S;ENSP00000409813:G1072S	ENSP00000263816:G1209S	G	-	1	0	LRP2	169807754	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGT		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		16	106	0	0	0	0	16	106				
LRRN4	164312	broad.mit.edu	37	20	6031559	6031559	+	Silent	SNP	C	C	T	rs149005401		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:6031559C>T	ENST00000378858.4	-	3	950	c.726G>A	c.(724-726)acG>acA	p.T242T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	242					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCTCCAGGGTCGTCAGCCGAG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19394	0.0		0.0	False		,,,				2504	0.0					uc002wmo.2		NA																	0				skin(3)	3						c.(724-726)ACG>ACA		leucine rich repeat neuronal 4 precursor		C		1,4405	2.1+/-5.4	0,1,2202	95.0	87.0	90.0		726	-5.0	0.0	20	dbSNP_134	90	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	LRRN4	NM_152611.3		0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615		242/741	6031559	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6031559C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.726G>A	20.37:g.6031559C>T						LRRN4_uc002wmp.2_Silent_p.T242T	p.T242T	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			3	950	-			242			Extracellular (Potential).|LRR 8.		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.726G>A	CCDS13097.1																																																																																				0.552	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		10	21	0	0	0	0	10	21				
XRN2	22803	broad.mit.edu	37	20	21328869	21328869	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:21328869A>C	ENST00000377191.3	+	18	1846	c.1751A>C	c.(1750-1752)gAt>gCt	p.D584A	XRN2_ENST00000539513.1_Missense_Mutation_p.D530A|XRN2_ENST00000430571.2_Missense_Mutation_p.D508A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	584				D -> E (in Ref. 1; AAD55138). {ECO:0000305}.	cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATGCCATCTGATTTTGAGAAG	0.348																																						uc002wsf.1		NA																	0				skin(1)	1						c.(1750-1752)GAT>GCT		5'-3' exoribonuclease 2							119.0	109.0	113.0					20																	21328869		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21328869A>C	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1751A>C	20.37:g.21328869A>C	ENSP00000366396:p.Asp584Ala					XRN2_uc002wsg.1_Missense_Mutation_p.D508A|XRN2_uc010zsk.1_Missense_Mutation_p.D530A	p.D584A	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			18	1846	+			584	D -> E (in Ref. 1; AAD55138).				Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1751A>C	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522141	0.44866	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.75050	-0.9;-0.9;-0.9	5.4	5.4	0.78164	.	0.224065	0.52532	D	0.000064	T	0.71281	0.3321	L	0.60455	1.87	0.80722	D	1	B	0.16396	0.017	B	0.15052	0.012	T	0.67122	-0.5750	10	0.34782	T	0.22	-11.5375	15.7046	0.77569	1.0:0.0:0.0:0.0	.	584	Q9H0D6	XRN2_HUMAN	A	584;508;530	ENSP00000366396:D584A;ENSP00000413548:D508A;ENSP00000441113:D530A	ENSP00000366396:D584A	D	+	2	0	XRN2	21276869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.875000	0.92372	2.163000	0.67991	0.482000	0.46254	GAT		0.348	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		5	49	0	0	0	0	5	49				
HM13	81502	broad.mit.edu	37	20	30154066	30154066	+	Silent	SNP	G	G	A	rs567853849		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:30154066G>A	ENST00000340852.5	+	11	1126	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	HM13_ENST00000492709.1_3'UTR|HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000335574.5_Silent_p.A334A|HM13_ENST00000398174.3_Silent_p.A334A|HM13_ENST00000376127.3_Silent_p.A292A|HM13-AS1_ENST00000412178.1_RNA	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	334					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCCTGGTGGCGCTGGCCAAGG	0.612																																						uc002wwe.2		NA																	0				breast(1)	1						c.(1000-1002)GCG>GCA		minor histocompatibility antigen 13 isoform 1							110.0	92.0	98.0					20																	30154066		2203	4300	6503	SO:0001819	synonymous_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30154066G>A	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.1002G>A	20.37:g.30154066G>A						HM13_uc002wwc.2_Silent_p.A334A|HM13_uc002wwd.2_Silent_p.A334A|HM13_uc002wwf.2_Silent_p.A210A|HM13_uc010gdu.2_Silent_p.A210A	p.A334A	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		11	1116	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		334			Helical; (Potential).		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	ENST00000340852.5	37	c.1002G>A	CCDS13182.1																																																																																				0.612	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		10	107	0	0	0	0	10	107				
NDRG3	57446	broad.mit.edu	37	20	35312834	35312834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:35312834G>A	ENST00000349004.1	-	6	446	c.365C>T	c.(364-366)cCt>cTt	p.P122L	NDRG3_ENST00000540765.1_Missense_Mutation_p.P18L|NDRG3_ENST00000373803.2_Missense_Mutation_p.P122L|NDRG3_ENST00000359675.2_Missense_Mutation_p.P110L|NDRG3_ENST00000373773.3_Missense_Mutation_p.P27L	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	122				P -> S (in Ref. 2; AAK34944). {ECO:0000305}.	cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GGTAAGAACAGGAGGCAGCAT	0.418																																						uc002xfw.2		NA																	0				ovary(1)	1						c.(364-366)CCT>CTT		N-myc downstream regulated gene 3 isoform a							121.0	101.0	108.0					20																	35312834		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35312834G>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.365C>T	20.37:g.35312834G>A	ENSP00000345292:p.Pro122Leu					NDRG3_uc002xfx.2_Missense_Mutation_p.P110L|NDRG3_uc010zvq.1_Missense_Mutation_p.P27L|NDRG3_uc010zvr.1_Missense_Mutation_p.P10L	p.P122L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			6	447	-		Myeloproliferative disorder(115;0.00878)	122	P -> S (in Ref. 2; AAK34944).				A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.365C>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144150	0.21205	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765;ENST00000422536	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.31	5.31	0.75309	.	0.733197	0.14020	N	0.346832	T	0.08670	0.0215	N	0.02539	-0.55	0.40987	D	0.984824	B;B;B	0.24675	0.0;0.0;0.109	B;B;B	0.27380	0.001;0.001;0.079	T	0.38286	-0.9668	10	0.14252	T	0.57	.	16.5782	0.84706	0.0:0.0:1.0:0.0	.	27;110;122	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	L	122;122;110;27;18;113	ENSP00000345292:P122L;ENSP00000362909:P122L;ENSP00000352703:P110L;ENSP00000362878:P27L;ENSP00000442813:P18L;ENSP00000416636:P113L	ENSP00000345292:P122L	P	-	2	0	NDRG3	34746248	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	5.275000	0.65575	2.780000	0.95670	0.585000	0.79938	CCT		0.418	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			7	38	0	0	0	0	7	38				
CYYR1	116159	broad.mit.edu	37	21	27840862	27840862	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:27840862C>T	ENST00000299340.4	-	4	766	c.423G>A	c.(421-423)caG>caA	p.Q141Q	AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000421771.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000429340.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	141						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGAGAACGCTGTGCTGGAC	0.532																																						uc002ymd.2		NA																	0					0						c.(421-423)CAG>CAA		cysteine and tyrosine-rich 1 protein precursor							90.0	80.0	83.0					21																	27840862		2203	4300	6503	SO:0001819	synonymous_variant	116159					integral to membrane		g.chr21:27840862C>T	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.423G>A	21.37:g.27840862C>T						CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.Q142Q	p.Q141Q	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN			4	745	-			141			Cytoplasmic (Potential).		A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.423G>A	CCDS13578.1																																																																																				0.532	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		5	41	0	0	0	0	5	41				
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:30380219A>T	ENST00000493196.1	-	4	688	c.588T>A	c.(586-588)caT>caA	p.H196Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	196										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGTTATAGATATGATGGCTGT	0.458																																						uc002yms.2		NA																	0					0						c.(586-588)CAT>CAA		RWD domain containing 2B							123.0	118.0	120.0					21																	30380219		2203	4300	6503	SO:0001583	missense	10069							g.chr21:30380219A>T	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.588T>A	21.37:g.30380219A>T	ENSP00000418693:p.His196Gln					RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	p.H196Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN			4	675	-			196						Missense_Mutation	SNP	ENST00000493196.1	37	c.588T>A	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090529	0.76756	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.41	2.45	0.29901	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	M	0.88775	2.98	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77848	-0.2435	9	0.59425	D	0.04	-22.4728	8.8234	0.35041	0.3425:0.0:0.6575:0.0	.	196;196	Q53FD2;P57060	.;RWD2B_HUMAN	Q	196	.	ENSP00000418693:H196Q	H	-	3	2	RWDD2B	29302090	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.464000	0.35288	0.331000	0.23511	0.533000	0.62120	CAT		0.458	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			7	59	0	0	0	0	7	59				
SON	6651	broad.mit.edu	37	21	34923613	34923613	+	Silent	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:34923613T>A	ENST00000356577.4	+	3	2551	c.2076T>A	c.(2074-2076)ccT>ccA	p.P692P	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.P692P|SON_ENST00000300278.4_Silent_p.P692P|SON_ENST00000381679.4_Silent_p.P692P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	692					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGCTGCCTACTACATTAG	0.512																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(2074-2076)CCT>CCA		SON DNA-binding protein isoform F							91.0	94.0	93.0					21																	34923613		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923613T>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2076T>A	21.37:g.34923613T>A						SON_uc002ysb.1_Silent_p.P692P|SON_uc002ysc.2_Silent_p.P692P|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.P692P	NM_138927	NP_620305	P18583	SON_HUMAN			3	2125	+			692					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2076T>A	CCDS13629.1																																																																																				0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		16	56	0	0	0	0	16	56				
MCM3AP	8888	broad.mit.edu	37	21	47704324	47704324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:47704324T>C	ENST00000397708.1	-	2	1131	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R293G|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	293	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTCCTTCCTTTTCAGTCCT	0.572																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(877-879)AGG>GGG		minichromosome maintenance complex component 3							95.0	101.0	99.0					21																	47704324		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704324T>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.877A>G	21.37:g.47704324T>C	ENSP00000380820:p.Arg293Gly					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.R293G	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	913	-	Breast(49;0.112)		293					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.877A>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392708	0.62066	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18016	2.24;2.24	4.9	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.34521	1.04	0.44432	D	0.997351	D	0.76494	0.999	D	0.80764	0.994	T	0.01222	-1.1414	10	0.34782	T	0.22	-25.7298	11.6773	0.51438	0.0:0.0:0.2517:0.7483	.	293	O60318	MCM3A_HUMAN	G	293	ENSP00000380820:R293G;ENSP00000291688:R293G	ENSP00000291688:R293G	R	-	1	2	MCM3AP	46528752	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.093000	0.30939	2.053000	0.61076	0.460000	0.39030	AGG		0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		31	64	0	0	0	0	31	64				
HIRA	7290	broad.mit.edu	37	22	19393354	19393354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:19393354C>T	ENST00000263208.5	-	5	608	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.V74M|HIRA_ENST00000340170.4_Missense_Mutation_p.V118M|HIRA_ENST00000546308.1_Missense_Mutation_p.V74M	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	118					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CACTGCTCCACATTGGCAAGC	0.602																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(352-354)GTG>ATG		HIR histone cell cycle regulation defective							96.0	77.0	83.0					22																	19393354		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19393354C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.352G>A	22.37:g.19393354C>T	ENSP00000263208:p.Val118Met					HIRA_uc011agx.1_Translation_Start_Site|HIRA_uc010grn.1_Missense_Mutation_p.V118M|HIRA_uc010gro.1_Missense_Mutation_p.V74M|HIRA_uc010grp.2_RNA	p.V118M	NM_003325	NP_003316	P54198	HIRA_HUMAN			5	572	-	Colorectal(54;0.0993)		118					Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.352G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321501	0.81580	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	D;T;D;D	0.82619	-1.63;-0.8;-1.63;-1.63	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.94	D	0.86510	0.1809	10	0.48119	T	0.1	-17.5563	18.1731	0.89753	0.0:1.0:0.0:0.0	.	118;118	P54198-2;P54198	.;HIRA_HUMAN	M	118;118;74;74	ENSP00000345350:V118M;ENSP00000263208:V118M;ENSP00000446073:V74M;ENSP00000441870:V74M	ENSP00000263208:V118M	V	-	1	0	HIRA	17773354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.131000	0.77243	2.519000	0.84933	0.563000	0.77884	GTG		0.602	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		5	32	0	0	0	0	5	32				
DZIP3	9666	broad.mit.edu	37	3	108355484	108355484	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:108355484T>A	ENST00000361582.3	+	11	1170	c.940T>A	c.(940-942)Ttg>Atg	p.L314M	DZIP3_ENST00000463306.1_Missense_Mutation_p.L314M	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	314					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAAAAATGTTTGAAGGAAGG	0.274																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(940-942)TTG>ATG		DAZ interacting protein 3, zinc finger							183.0	176.0	178.0					3																	108355484		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108355484T>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.940T>A	3.37:g.108355484T>A	ENSP00000355028:p.Leu314Met					DZIP3_uc003dxf.1_Missense_Mutation_p.L314M|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.L314M|DZIP3_uc003dxg.1_Missense_Mutation_p.L37M	p.L314M	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			11	1362	+			314					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.940T>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654926	0.67472	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.53206	0.63;0.63;0.63	4.88	4.88	0.63580	.	0.000000	0.42964	D	0.000623	T	0.51652	0.1687	N	0.19112	0.55	0.31651	N	0.646747	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.996	T	0.59731	-0.7399	10	0.72032	D	0.01	-7.0418	10.807	0.46524	0.0:0.0:0.0:1.0	.	314;314	C9J9M8;Q86Y13	.;DZIP3_HUMAN	M	314	ENSP00000355028:L314M;ENSP00000418115:L314M;ENSP00000419981:L314M	ENSP00000355028:L314M	L	+	1	2	DZIP3	109838174	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.063000	0.41423	2.043000	0.60533	0.528000	0.53228	TTG		0.274	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		8	111	0	0	0	0	8	111				
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						uc011bmq.1		NA																	1	Substitution - Missense(1)		skin(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3199-3201)GAC>GTC		catalytic phosphatidylinositol 3-kinase beta							139.0	129.0	132.0					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>T	3.37:g.138374244T>A	ENSP00000418143:p.Asp1067Val					PIK3CB_uc011bmn.1_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_RNA	p.D1067V	NM_006219	NP_006210	P42338	PK3CB_HUMAN			22	3200	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.866111|3.866111	0.71949|0.71949	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71934|.	-0.61;-0.19;-0.61|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.99;0.987;0.99|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.66056|.	D|.	0.02|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|S	1067;518;1067|699	ENSP00000418143:D1067V;ENSP00000438259:D518V;ENSP00000289153:D1067V|.	ENSP00000289153:D1067V|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			37	63	0	0	0	0	37	63				
TRIM42	287015	broad.mit.edu	37	3	140406956	140406956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:140406956G>T	ENST00000286349.3	+	3	1623	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	478	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGTGCCCTTGGACTTTGTTGA	0.602																																						uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1432-1434)GAC>TAC		tripartite motif-containing 42							77.0	66.0	70.0					3																	140406956		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406956G>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1432G>T	3.37:g.140406956G>T	ENSP00000286349:p.Asp478Tyr						p.D478Y	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1623	+			478			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1432G>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069098	0.55539	.	.	ENSG00000155890	ENST00000286349	T	0.47528	0.84	5.63	4.74	0.60224	COS domain (1);	0.262685	0.32852	N	0.005572	T	0.50667	0.1629	N	0.24115	0.695	0.38903	D	0.957376	D	0.89917	1.0	D	0.65573	0.936	T	0.54977	-0.8212	10	0.87932	D	0	-29.8536	11.0157	0.47687	0.0894:0.0:0.9106:0.0	.	478	Q8IWZ5	TRI42_HUMAN	Y	478	ENSP00000286349:D478Y	ENSP00000286349:D478Y	D	+	1	0	TRIM42	141889646	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	2.884000	0.48562	2.826000	0.97356	0.655000	0.94253	GAC		0.602	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		11	22	1	0	5.51e-06	1.14e-05	11	22				
RFC1	5981	broad.mit.edu	37	4	39310409	39310409	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:39310409C>G	ENST00000381897.1	-	13	1865	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	RFC1_ENST00000349703.2_Missense_Mutation_p.E578Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	578					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTTGTTTTCACTGCTGTCA	0.463																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1732-1734)GAA>CAA		replication factor C large subunit							202.0	211.0	208.0					4																	39310409		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310409C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1732G>C	4.37:g.39310409C>G	ENSP00000371321:p.Glu578Gln					RFC1_uc003gtx.1_Missense_Mutation_p.E578Q	p.E578Q	NM_002913	NP_002904	P35251	RFC1_HUMAN			13	1866	-			578					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1732G>C	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808552	0.31961	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.12672	2.67;2.66	5.91	2.86	0.33363	.	0.878157	0.10385	N	0.681080	T	0.16896	0.0406	L	0.59436	1.845	0.09310	N	1	B;B	0.33266	0.112;0.404	B;B	0.39419	0.067;0.299	T	0.24621	-1.0155	10	0.14252	T	0.57	-3.946	10.007	0.41964	0.0:0.7376:0.119:0.1434	.	578;578	P35251;P35251-2	RFC1_HUMAN;.	Q	578	ENSP00000371321:E578Q;ENSP00000261424:E578Q	ENSP00000261424:E578Q	E	-	1	0	RFC1	38986804	0.023000	0.18921	0.189000	0.23252	0.963000	0.63663	1.075000	0.30716	1.481000	0.48307	0.655000	0.94253	GAA		0.463	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		26	131	0	0	0	0	26	131				
PTPN13	5783	broad.mit.edu	37	4	87692491	87692491	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:87692491G>A	ENST00000411767.2	+	31	5034	c.4971G>A	c.(4969-4971)ggG>ggA	p.G1657G	PTPN13_ENST00000427191.2_Silent_p.G1638G|PTPN13_ENST00000511467.1_Silent_p.G1662G|PTPN13_ENST00000436978.1_Silent_p.G1662G|PTPN13_ENST00000316707.6_Silent_p.G1466G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1657					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGCAGTGGGAGTGGAGAAG	0.453																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(4969-4971)GGG>GGA		protein tyrosine phosphatase, non-receptor type							68.0	69.0	69.0					4																	87692491		2091	4229	6320	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87692491G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4971G>A	4.37:g.87692491G>A						PTPN13_uc003hpy.2_Silent_p.G1662G|PTPN13_uc003hqa.2_Silent_p.G1638G|PTPN13_uc003hqb.2_Silent_p.G1466G|PTPN13_uc003hqc.1_Silent_p.G23G	p.G1657G	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	31	5451	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1657					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.4971G>A	CCDS47094.1																																																																																				0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	4	0	0	0	0	4	4				
SYNPO2	171024	broad.mit.edu	37	4	119952308	119952308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:119952308C>G	ENST00000429713.2	+	4	2560	c.2378C>G	c.(2377-2379)cCc>cGc	p.P793R	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P793R	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	793	Pro-rich.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGCCTTCCCCACATCCAAC	0.567																																						uc003icm.3		NA																	0				ovary(2)	2						c.(2377-2379)CCC>CGC		synaptopodin 2 isoform b							81.0	77.0	78.0					4																	119952308		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952308C>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2378C>G	4.37:g.119952308C>G	ENSP00000395143:p.Pro793Arg					SYNPO2_uc010ina.2_Missense_Mutation_p.P793R|SYNPO2_uc010inb.2_Missense_Mutation_p.P793R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P721R	p.P793R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2574	+			793			Pro-rich.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2378C>G	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470674	0.26423	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.08546	3.08;3.1;3.1	5.65	5.65	0.86999	.	0.291439	0.29900	N	0.010915	T	0.12603	0.0306	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.49090	0.868;0.919;0.868;0.779	B;P;B;B	0.45610	0.235;0.487;0.293;0.125	T	0.02625	-1.1132	9	.	.	.	-10.2746	17.9047	0.88915	0.0:1.0:0.0:0.0	.	793;793;793;793	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	R	793	ENSP00000306015:P793R;ENSP00000395143:P793R;ENSP00000390965:P793R	.	P	+	2	0	SYNPO2	120171756	0.991000	0.36638	0.939000	0.37840	0.050000	0.14768	3.080000	0.50112	2.668000	0.90789	0.655000	0.94253	CCC		0.567	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			4	61	0	0	0	0	4	61				
FABP2	2169	broad.mit.edu	37	4	120243207	120243207	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:120243207C>T	ENST00000274024.3	-	1	338	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	17					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TTTCCATGAACTTGTCATAGT	0.393																																						uc003icw.2		NA																	0				ovary(1)	1						c.(49-51)AAG>AAA		intestinal fatty acid binding protein 2							208.0	209.0	209.0					4																	120243207		2203	4300	6503	SO:0001819	synonymous_variant	2169						fatty acid binding	g.chr4:120243207C>T	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.51G>A	4.37:g.120243207C>T							p.K17K	NM_000134	NP_000125	P12104	FABPI_HUMAN			1	110	-			17					Q2NKJ1	Silent	SNP	ENST00000274024.3	37	c.51G>A	CCDS3712.1																																																																																				0.393	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		27	132	0	0	0	0	27	132				
SLC6A3	6531	broad.mit.edu	37	5	1422042	1422042	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:1422042G>C	ENST00000270349.9	-	5	868	c.741C>G	c.(739-741)gtC>gtG	p.V247V	SLC6A3_ENST00000453492.2_Silent_p.V247V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	247					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCAGCACGATGACCAGCACCA	0.647																																						uc003jck.2		NA																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(739-741)GTC>GTG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						97.0	84.0	89.0					5																	1422042		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422042G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.741C>G	5.37:g.1422042G>C							p.V247V	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	862	-			247			Helical; Name=4; (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.741C>G	CCDS3863.1																																																																																				0.647	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		7	88	0	0	0	0	7	88				
TRIO	7204	broad.mit.edu	37	5	14508431	14508431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:14508431G>C	ENST00000344204.4	+	57	9218	c.9194G>C	c.(9193-9195)aGa>aCa	p.R3065T	TRIO_ENST00000344135.5_Missense_Mutation_p.R564T|TRIO_ENST00000537187.1_Missense_Mutation_p.R2889T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3065					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACACGTCCAGACTGACTTCC	0.592																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(9193-9195)AGA>ACA		triple functional domain (PTPRF interacting)							56.0	57.0	57.0					5																	14508431		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508431G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.9194G>C	5.37:g.14508431G>C	ENSP00000339299:p.Arg3065Thr					TRIO_uc003jfg.2_RNA	p.R3065T	NM_007118	NP_009049	O75962	TRIO_HUMAN			57	9200	+	Lung NSC(4;0.000742)		3065					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.9194G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464271	0.84425	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.67345	-0.26;-0.23;1.11	5.72	5.72	0.89469	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.69823	2.125	0.33523	D	0.59269	D	0.89917	1.0	D	0.87578	0.998	D	0.86347	0.1708	10	0.87932	D	0	.	19.8755	0.96869	0.0:0.0:1.0:0.0	.	3065	O75962	TRIO_HUMAN	T	3065;2889;564	ENSP00000339299:R3065T;ENSP00000446348:R2889T;ENSP00000339291:R564T	ENSP00000339291:R564T	R	+	2	0	TRIO	14561431	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.689000	0.91719	0.650000	0.86243	AGA		0.592	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	67	0	0	0	0	4	67				
POLK	51426	broad.mit.edu	37	5	74892047	74892047	+	Splice_Site	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:74892047G>A	ENST00000241436.4	+	13	1701	c.1529G>A	c.(1528-1530)gGt>gAt	p.G510D	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Splice_Site_p.G312D|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Splice_Site_p.G312D|POLK_ENST00000380481.3_Splice_Site_p.G420D|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTTAATTTAGGTGTTCGGATA	0.373								DNA polymerases (catalytic subunits)																														uc003kdw.2		NA																	0				ovary(2)|kidney(2)	4						c.(1528-1530)GGT>GAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							46.0	50.0	49.0					5																	74892047		2202	4300	6502	SO:0001630	splice_region_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892047G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1529-1G>A	5.37:g.74892047G>A						POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.G312D|POLK_uc003kec.2_Missense_Mutation_p.G420D|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.G420D	p.G510D	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1625	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	510					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1529G>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173679	0.78452	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	D;D;D;D	0.95949	-1.63;-3.86;-3.86;-1.63	5.56	5.56	0.83823	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97495	1.0056	9	.	.	.	.	19.5216	0.95187	0.0:0.0:1.0:0.0	.	312;510	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	D	510;312;312;420	ENSP00000241436:G510D;ENSP00000342256:G312D;ENSP00000426853:G312D;ENSP00000369848:G420D	.	G	+	2	0	POLK	74927803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.362000	0.90100	2.605000	0.88082	0.655000	0.94253	GGT		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	Missense_Mutation	8	12	0	0	0	0	8	12				
UHRF1BP1	54887	broad.mit.edu	37	6	34826614	34826614	+	Silent	SNP	C	C	T	rs149495470	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:34826614C>T	ENST00000192788.5	+	14	2652	c.2481C>T	c.(2479-2481)cgC>cgT	p.R827R	UHRF1BP1_ENST00000452449.2_Silent_p.R827R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	827							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCATGTCCGCGTGAGGCTTG	0.527													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20981	0.0		0.0	False		,,,				2504	0.0					uc003oju.3		NA																	0				ovary(3)	3						c.(2479-2481)CGC>CGT		ICBP90 binding protein 1		C		6,3966		0,6,1980	158.0	152.0	154.0		2481	-7.5	0.0	6	dbSNP_134	154	0,8360		0,0,4180	no	coding-synonymous	UHRF1BP1	NM_017754.3		0,6,6160	TT,TC,CC		0.0,0.1511,0.0487		827/1441	34826614	6,12326	1986	4180	6166	SO:0001819	synonymous_variant	54887							g.chr6:34826614C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2481C>T	6.37:g.34826614C>T						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.R827R	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2715	+			827					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2481C>T	CCDS43455.1																																																																																				0.527	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		29	101	0	0	0	0	29	101				
SOBP	55084	broad.mit.edu	37	6	107956480	107956480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:107956480A>G	ENST00000317357.5	+	6	3091	c.2432A>G	c.(2431-2433)gAc>gGc	p.D811G	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AACCCCGCGGACGAGGACCAT	0.647																																						uc003prx.2		NA																	0				ovary(1)	1						c.(2431-2433)GAC>GGC		sine oculis binding protein homolog							64.0	78.0	74.0					6																	107956480		2113	4231	6344	SO:0001583	missense	55084						metal ion binding	g.chr6:107956480A>G	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2432A>G	6.37:g.107956480A>G	ENSP00000318900:p.Asp811Gly						p.D811G	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2936	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	811						Missense_Mutation	SNP	ENST00000317357.5	37	c.2432A>G	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552837	0.65425	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.24538	1.85	4.7	4.7	0.59300	.	0.813799	0.09718	U	0.764870	T	0.24736	0.0600	N	0.14661	0.345	0.42549	D	0.993103	D	0.71674	0.998	D	0.75484	0.986	T	0.14727	-1.0462	10	0.66056	D	0.02	-5.2974	14.1393	0.65308	1.0:0.0:0.0:0.0	.	811	A7XYQ1	SOBP_HUMAN	G	811;206	ENSP00000318900:D811G	ENSP00000230065:D206G	D	+	2	0	SOBP	108063173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.392000	0.73213	1.729000	0.51567	0.379000	0.24179	GAC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		16	46	0	0	0	0	16	46				
TCF21	6943	broad.mit.edu	37	6	134210564	134210564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:134210564A>G	ENST00000367882.4	+	1	289	c.29A>G	c.(28-30)gAg>gGg	p.E10G	RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E10G|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	10					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGCGATGTGGAGGACCTTCAA	0.532																																						uc003qei.3		NA																	0					0						c.(28-30)GAG>GGG		transcription factor 21							95.0	99.0	98.0					6																	134210564		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210564A>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.29A>G	6.37:g.134210564A>G	ENSP00000356857:p.Glu10Gly					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E10G	p.E10G	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	305	+	Colorectal(23;0.221)|Breast(56;0.247)		10					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.29A>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509433	0.64522	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96940	-4.18;-4.18	4.43	4.43	0.53597	.	0.162448	0.53938	D	0.000058	D	0.91175	0.7220	L	0.48642	1.525	0.52501	D	0.999953	B	0.12013	0.005	B	0.08055	0.003	D	0.90368	0.4378	10	0.87932	D	0	-7.981	12.8543	0.57876	1.0:0.0:0.0:0.0	.	10	O43680	TCF21_HUMAN	G	10	ENSP00000356857:E10G;ENSP00000237316:E10G	ENSP00000237316:E10G	E	+	2	0	TCF21	134252257	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	8.737000	0.91562	1.630000	0.50440	0.260000	0.18958	GAG		0.532	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		6	60	0	0	0	0	6	60				
PLEKHA8	84725	broad.mit.edu	37	7	30113748	30113748	+	Splice_Site	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:30113748G>T	ENST00000449726.1	+	13	1712	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A	PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396259.1_Intron|AC007285.7_ENST00000433088.1_RNA|PLEKHA8_ENST00000396257.2_Splice_Site_p.A454A	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	454	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGGTTTTTGCGGTAAGTGATC	0.403																																						uc003tam.1		NA																	0				breast(3)|ovary(1)	4						c.(1360-1362)GCG>GCT		pleckstrin homology domain containing, family A							70.0	65.0	66.0					7																	30113748		876	1991	2867	SO:0001630	splice_region_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30113748G>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1362+1G>T	7.37:g.30113748G>T						PLEKHA8_uc003tao.2_Silent_p.A338A|PLEKHA8_uc003tap.1_Silent_p.A454A|PLEKHA8_uc003tan.2_Intron	p.A454A	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			13	1453	+			454					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.1362G>T	CCDS56473.1																																																																																				0.403	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	Silent	10	11	1	0	0.00136819	0.00278125	10	11				
AP4M1	9179	broad.mit.edu	37	7	99703604	99703604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:99703604C>T	ENST00000359593.4	+	12	1110	c.952C>T	c.(952-954)Cga>Tga	p.R318*	AP4M1_ENST00000422582.1_Nonsense_Mutation_p.R190*|AP4M1_ENST00000429084.1_Nonsense_Mutation_p.R325*|AP4M1_ENST00000421755.1_Nonsense_Mutation_p.R318*	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	318	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTAAAGTTGCGATGTGACCT	0.552																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NA																	0					0						c.(952-954)CGA>TGA		adaptor-related protein complex 4, mu 1 subunit							181.0	149.0	160.0					7																	99703604		2203	4300	6503	SO:0001587	stop_gained	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99703604C>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.952C>T	7.37:g.99703604C>T	ENSP00000352603:p.Arg318*					AP4M1_uc011kjg.1_Nonsense_Mutation_p.R272*|AP4M1_uc010lgl.1_Nonsense_Mutation_p.R293*|AP4M1_uc003utc.3_Nonsense_Mutation_p.R325*|AP4M1_uc010lgm.2_Nonsense_Mutation_p.R190*|AP4M1_uc003utd.2_Nonsense_Mutation_p.R318*|AP4M1_uc011kjh.1_Nonsense_Mutation_p.R270*|AP4M1_uc003ute.3_Nonsense_Mutation_p.R93*|AP4M1_uc003utf.3_Nonsense_Mutation_p.R190*	p.R318*	NM_004722	NP_004713	O00189	AP4M1_HUMAN			12	1160	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		318			MHD.		D6W5U1|Q8WV65|Q9UHK9	Nonsense_Mutation	SNP	ENST00000359593.4	37	c.952C>T	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	38	6.877732	0.97904	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807	.	.	.	5.1	4.21	0.49690	.	0.060513	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-27.9466	10.793	0.46445	0.1889:0.8111:0.0:0.0	.	.	.	.	X	250;325;318;318;190;70	.	ENSP00000352603:R318X	R	+	1	2	AP4M1	99541540	1.000000	0.71417	0.997000	0.53966	0.119000	0.20118	2.051000	0.41307	1.339000	0.45563	-0.182000	0.12963	CGA		0.552	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		10	106	0	0	0	0	10	106				
CHRNB3	1142	broad.mit.edu	37	8	42587134	42587134	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587134C>G	ENST00000289957.2	+	5	812	c.684C>G	c.(682-684)gtC>gtG	p.V228V		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	228					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATTCCTTCGTCCTGAGACGCC	0.478																																						uc003xpi.1		NA																	0				ovary(1)	1						c.(682-684)GTC>GTG		cholinergic receptor, nicotinic, beta							89.0	91.0	90.0					8																	42587134		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587134C>G	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.684C>G	8.37:g.42587134C>G							p.V228V	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	812	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	228			Extracellular (Potential).		Q15827	Silent	SNP	ENST00000289957.2	37	c.684C>G	CCDS6134.1																																																																																				0.478	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			28	57	0	0	0	0	28	57				
CHRNB3	1142	broad.mit.edu	37	8	42587173	42587173	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587173C>A	ENST00000289957.2	+	5	851	c.723C>A	c.(721-723)atC>atA	p.I241I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	241					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TCTTTCTCATCATCCCCTGCC	0.468																																						uc003xpi.1		NA																	0				ovary(1)	1						c.(721-723)ATC>ATA		cholinergic receptor, nicotinic, beta							73.0	79.0	77.0					8																	42587173		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587173C>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.723C>A	8.37:g.42587173C>A							p.I241I	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	851	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	241			Helical; (Potential).		Q15827	Silent	SNP	ENST00000289957.2	37	c.723C>A	CCDS6134.1																																																																																				0.468	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			26	49	1	0	3.74e-18	8.04e-18	26	49				
FAM135B	51059	broad.mit.edu	37	8	139164397	139164397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:139164397G>T	ENST00000395297.1	-	13	2491	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	774										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGATGTGGGGAGCAGATAC	0.522										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(2320-2322)CCC>CAC		hypothetical protein LOC51059							44.0	47.0	46.0					8																	139164397		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164397G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2321C>A	8.37:g.139164397G>T	ENSP00000378710:p.Pro774His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P675H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P336H|FAM135B_uc003yvb.2_Missense_Mutation_p.P336H	p.P774H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2492	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		774					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2321C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007076	0.75046	.	.	ENSG00000147724	ENST00000395297	T	0.56275	0.47	5.64	5.64	0.86602	.	0.062016	0.64402	D	0.000005	T	0.65133	0.2662	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.67015	-0.5777	10	0.72032	D	0.01	-26.3917	18.7049	0.91633	0.0:0.0:1.0:0.0	.	774;774;774	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	774	ENSP00000378710:P774H	ENSP00000276737:P774H	P	-	2	0	FAM135B	139233579	1.000000	0.71417	0.991000	0.47740	0.541000	0.35023	9.230000	0.95299	2.667000	0.90743	0.655000	0.94253	CCC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	99	1	0	1.59e-06	3.32e-06	8	99				
NAPRT	93100	broad.mit.edu	37	8	144658293	144658293	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:144658293G>A	ENST00000449291.2	-	8	1356	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	NAPRT1_ENST00000276844.7_Silent_p.V354V|NAPRT1_ENST00000435154.3_Silent_p.V354V|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Silent_p.V354V|RP11-661A12.9_ENST00000531730.1_RNA																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTTGTTGCTGACTACGATGA	0.672																																						uc003yym.3		NA																	0				ovary(1)	1						c.(1060-1062)GTC>GTT		nicotinate phosphoribosyltransferase domain							39.0	37.0	38.0					8																	144658293		2201	4300	6501	SO:0001819	synonymous_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658293G>A																												ENST00000449291.2:c.1062C>T	8.37:g.144658293G>A						NAPRT1_uc003yyn.3_Silent_p.V354V|NAPRT1_uc011lkh.1_Silent_p.V354V|NAPRT1_uc003yyo.3_Silent_p.V354V	p.V354V	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1087	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		354						Silent	SNP	ENST00000449291.2	37	c.1062C>T	CCDS6403.2																																																																																				0.672	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			12	40	0	0	0	0	12	40				
SUSD1	64420	broad.mit.edu	37	9	114911525	114911525	+	Splice_Site	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:114911525T>A	ENST00000374270.3	-	3	544	c.372A>T	c.(370-372)acA>acT	p.T124T	SUSD1_ENST00000374264.2_Splice_Site_p.T124T|SUSD1_ENST00000374263.3_Splice_Site_p.T124T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	124						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGAGTACCTGTACAAAAGG	0.458																																						uc004bfu.2		NA																	0					0						c.(370-372)ACA>ACT		sushi domain containing 1 precursor							295.0	278.0	284.0					9																	114911525		2203	4300	6503	SO:0001630	splice_region_variant	64420					integral to membrane	calcium ion binding	g.chr9:114911525T>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.373+1A>T	9.37:g.114911525T>A						SUSD1_uc010mui.2_Silent_p.T124T|SUSD1_uc010muj.2_Silent_p.T124T	p.T124T	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			3	413	-			124			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.372A>T	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759941	0.49468	.	.	ENSG00000106868	ENST00000355396	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8992	9.5161	0.39106	0.1575:0.0:0.0:0.8424	.	.	.	.	X	108	.	.	R	-	1	2	SUSD1	113951346	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.190000	0.50973	1.974000	0.57490	0.533000	0.62120	AGA		0.458	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	Silent	39	211	0	0	0	0	39	211				
CDK5RAP2	55755	broad.mit.edu	37	9	123239729	123239729	+	Splice_Site	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:123239729C>T	ENST00000349780.4	-	15	1806		c.e15-1		CDK5RAP2_ENST00000360822.3_Splice_Site|CDK5RAP2_ENST00000360190.4_Splice_Site|CDK5RAP2_ENST00000359309.3_Splice_Site	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTTTCTTTTCCTGGAAATGAC	0.358											OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bkf.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.e15-1		CDK5 regulatory subunit associated protein 2							170.0	149.0	156.0					9																	123239729		2203	4300	6503	SO:0001630	splice_region_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123239729C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1627-1G>A	9.37:g.123239729C>T			OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1525	CDK5RAP2_uc004bkg.2_Splice_Site_p.E543_splice|CDK5RAP2_uc011lxw.1_Splice_Site|CDK5RAP2_uc011lxx.1_Splice_Site|CDK5RAP2_uc011lxy.1_Splice_Site|CDK5RAP2_uc011lxz.1_Splice_Site|CDK5RAP2_uc011lya.1_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.E543_splice|CDK5RAP2_uc004bki.2_Splice_Site_p.E342_splice	p.E543_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			15	1808	-								Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	SNP	ENST00000349780.4	37	c.1627_splice	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443859	0.63067	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP2	122279550	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.218000	0.58554	2.793000	0.96121	0.655000	0.94253	.		0.358	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Intron	13	60	0	0	0	0	13	60				
MAP7D2	256714	broad.mit.edu	37	X	20043130	20043130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:20043130G>T	ENST00000379651.3	-	9	1246	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q451K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q295K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q365K|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q358K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	410					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGCCGGGCCTGTCTTCTCTTT	0.527																																						uc004czr.1		NA																	0				ovary(2)|breast(1)	3						c.(1228-1230)CAG>AAG		MAP7 domain containing 2							247.0	200.0	216.0					X																	20043130		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20043130G>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1228C>A	X.37:g.20043130G>T	ENSP00000368972:p.Gln410Lys					MAP7D2_uc004czq.1_Missense_Mutation_p.Q295K|MAP7D2_uc011mji.1_Missense_Mutation_p.Q358K|MAP7D2_uc010nfo.1_Missense_Mutation_p.Q451K|MAP7D2_uc011mjj.1_Missense_Mutation_p.Q365K	p.Q410K	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			9	1247	-			410					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1228C>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966092	0.18659	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.38722	1.12;1.85;1.85;1.85;1.85	5.57	5.57	0.84162	.	0.079508	0.53938	D	0.000055	T	0.42314	0.1197	M	0.76574	2.34	0.41941	D	0.990618	P;P;P;P;P	0.43578	0.811;0.775;0.775;0.811;0.775	B;B;B;B;B	0.40602	0.334;0.146;0.225;0.334;0.225	T	0.46843	-0.9162	10	0.06099	T	0.92	-12.3544	15.7827	0.78272	0.0:0.0:1.0:0.0	.	365;358;451;410;295	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	K	410;451;295;365;93;358	ENSP00000368972:Q410K;ENSP00000368964:Q451K;ENSP00000440691:Q295K;ENSP00000388239:Q365K;ENSP00000413301:Q358K	ENSP00000368964:Q451K	Q	-	1	0	MAP7D2	19953051	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.455000	0.60075	2.323000	0.78572	0.600000	0.82982	CAG		0.527	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		56	44	1	0	3.4e-31	7.36e-31	56	44				
BCOR	54880	broad.mit.edu	37	X	39937101	39937101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:39937101C>G	ENST00000378444.4	-	2	310	c.82G>C	c.(82-84)Gac>Cac	p.D28H	BCOR_ENST00000378455.4_Missense_Mutation_p.D28H|BCOR_ENST00000342274.4_Missense_Mutation_p.D28H|BCOR_ENST00000397354.3_Missense_Mutation_p.D28H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	28					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATTCACCTGTCTTCGCTCGCC	0.627			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(82-84)GAC>CAC		BCL-6 interacting corepressor isoform c							85.0	66.0	73.0					X																	39937101		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39937101C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.82G>C	X.37:g.39937101C>G	ENSP00000367705:p.Asp28His					BCOR_uc004dep.3_Missense_Mutation_p.D28H|BCOR_uc004deo.3_Missense_Mutation_p.D28H|BCOR_uc004dem.3_Missense_Mutation_p.D28H|BCOR_uc004deq.3_Missense_Mutation_p.D28H	p.D28H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			2	374	-			28					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.82G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098572	0.37048	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	T;T;T;T	0.48836	0.82;0.8;0.83;0.8	5.51	4.65	0.58169	.	.	.	.	.	T	0.50326	0.1609	N	0.24115	0.695	0.39864	D	0.973416	D;D;D;D	0.59357	0.985;0.985;0.974;0.985	P;P;P;P	0.61940	0.853;0.896;0.717;0.896	T	0.48885	-0.8995	8	.	.	.	.	13.5609	0.61788	0.0:0.9233:0.0:0.0767	.	28;28;28;28	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	28	ENSP00000367716:D28H;ENSP00000380512:D28H;ENSP00000367705:D28H;ENSP00000345923:D28H	.	D	-	1	0	BCOR	39822045	1.000000	0.71417	0.969000	0.41365	0.074000	0.17049	4.042000	0.57347	1.090000	0.41315	-0.322000	0.08575	GAC		0.627	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		18	9	0	0	0	0	18	9				
TMEM187	8269	broad.mit.edu	37	X	153247560	153247560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153247560G>C	ENST00000369982.4	+	2	794	c.47G>C	c.(46-48)gGt>gCt	p.G16A	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	16						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGGCCGGTGGCCTCTGT	0.647																																						uc004fjq.2		NA																	0					0						c.(46-48)GGT>GCT		transmembrane protein 187							38.0	39.0	39.0					X																	153247560		2203	4299	6502	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247560G>C	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.47G>C	X.37:g.153247560G>C	ENSP00000358999:p.Gly16Ala					hsa-mir-3202-2|MI0014253_5'Flank	p.G16A	NM_003492	NP_003483	Q14656	TM187_HUMAN			2	581	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		16			Helical; (Potential).		B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.47G>C	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.209707	0.01555	.	.	ENSG00000177854	ENST00000369982;ENST00000425274;ENST00000431598	T;T	0.20463	2.07;2.07	4.18	2.15	0.27550	.	0.961393	0.08493	U	0.937625	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33369	-0.9871	10	0.07813	T	0.8	.	9.2897	0.37780	0.0:0.2836:0.5845:0.1319	.	16	Q14656	TM187_HUMAN	A	16	ENSP00000358999:G16A;ENSP00000390108:G16A	ENSP00000358999:G16A	G	+	2	0	TMEM187	152900754	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	0.349000	0.20055	0.580000	0.29522	0.436000	0.28706	GGT		0.647	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		14	10	0	0	0	0	14	10				
RPL10	6134	broad.mit.edu	37	X	153628946	153628946	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153628946C>G	ENST00000369817.2	+	7	1047	c.471C>G	c.(469-471)ttC>ttG	p.F157L	SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.F106L|RPL10_ENST00000424325.2_Missense_Mutation_p.F157L			P27635	RL10_HUMAN	ribosomal protein L10	157				F -> L (in Ref. 8; BAD97029). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAAGTTCAAGTTTCCTG	0.562																																						uc004fkm.2		NA																	0					0						c.(469-471)TTC>TTG		ribosomal protein L10							134.0	125.0	128.0					X																	153628946		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628946C>G	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.471C>G	X.37:g.153628946C>G	ENSP00000358832:p.Phe157Leu					uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F157L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F82L	p.F157L	NM_006013	NP_006004	P27635	RL10_HUMAN			6	659	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		157	F -> L (in Ref. 8; BAD97029).				A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.471C>G	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166174	0.78339	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.72394	-0.64;-0.64;-0.64;-0.65	4.95	4.95	0.65309	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	U	0.000000	T	0.81847	0.4909	M	0.94101	3.495	0.80722	D	1	B;B	0.23490	0.057;0.086	B;B	0.36719	0.129;0.231	D	0.83531	0.0091	10	0.72032	D	0.01	-14.6127	14.6626	0.68882	0.0:1.0:0.0:0.0	.	106;157	F8W7C6;P27635	.;RL10_HUMAN	L	157;157;157;157;106;67;67	ENSP00000358832:F157L;ENSP00000413436:F157L;ENSP00000341730:F157L;ENSP00000385621:F106L	ENSP00000341730:F157L	F	+	3	2	RPL10	153282140	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.359000	0.66074	2.042000	0.60477	0.600000	0.82982	TTC		0.562	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		3	35	0	0	0	0	3	35				
POLR2H	5437	broad.mit.edu	37	3	184082973	184082998	+	Frame_Shift_Del	DEL	GGATGATGGTGAATACAACCCCACTG	GGATGATGGTGAATACAACCCCACTG	-	rs112012928|rs200954315	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG	ENST00000456318.1	+	4	1259_1284	c.210_235delGGATGATGGTGAATACAACCCCACTG	c.(208-237)ctggatgatggtgaatacaaccccactgatfs	p.DDGEYNPTD71fs	POLR2H_ENST00000296223.3_Frame_Shift_Del_p.DDGEYNPTD71fs|POLR2H_ENST00000438240.1_Frame_Shift_Del_p.DDGEYNPTD35fs|POLR2H_ENST00000452961.1_Frame_Shift_Del_p.DDGEYNPTD35fs|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_Frame_Shift_Del_p.DDGEYNPTD71fs|POLR2H_ENST00000429568.1_Frame_Shift_Del_p.DDGEYNPTD71fs|POLR2H_ENST00000443489.1_Frame_Shift_Del_p.DDGEYNPTD35fs	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	71					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.P77P(1)|p.N76N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC	0.407																																						uc003fok.1		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)		0						c.(208-237)CTGGATGATGGTGAATACAACCCCACTGATfs		RNA polymerase II, polypeptide H																																				SO:0001589	frameshift_variant	5437				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG		CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.210_235delGGATGATGGTGAATACAACCCCACTG	3.37:g.184082973_184082998delGGATGATGGTGAATACAACCCCACTG	ENSP00000392913:p.Asp71fs					POLR2H_uc003foj.1_RNA	p.L70fs	NM_006232	NP_006223	P52434	RPAB3_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	297_322	+	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		70_79					C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Frame_Shift_Del	DEL	ENST00000456318.1	37	c.210_235delGGATGATGGTGAATACAACCCCACTG	CCDS3264.1																																																																																				0.407	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		9	141	NA	NA	NA	NA	9	141	---	---	---	---
LEMD2	221496	broad.mit.edu	37	6	33744932	33744933	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:33744932_33744933insTC	ENST00000293760.5	-	7	1259_1260	c.1240_1241insGA	c.(1240-1242)atgfs	p.M414fs	LEMD2_ENST00000508327.1_Frame_Shift_Ins_p.M112fs|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	414					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTTCTTCACCATCTCATACATG	0.51																																						uc011drm.1		NA																	0				central_nervous_system(1)	1						c.(1240-1242)ATGfs		LEM domain containing 2 isoform 1																																				SO:0001589	frameshift_variant	221496					integral to nuclear inner membrane		g.chr6:33744932_33744933insTC		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1239_1240dupGA	6.37:g.33744935_33744936dupTC	ENSP00000293760:p.Met414fs					LEMD2_uc010jvg.2_Frame_Shift_Ins_p.M123fs|LEMD2_uc011drl.1_Frame_Shift_Ins_p.M112fs|LEMD2_uc003ofe.2_Frame_Shift_Ins_p.M112fs	p.M414fs	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			7	1253_1254	-			414					B4DVH5|E7EVT2|Q5T972|Q5T974	Frame_Shift_Ins	INS	ENST00000293760.5	37	c.1240_1241insGA	CCDS4785.1																																																																																				0.510	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		32	193	NA	NA	NA	NA	32	193	---	---	---	---
RSPH3	83861	broad.mit.edu	37	6	159403578	159403579	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:159403578_159403579insTC	ENST00000252655.1	-	5	1249_1250	c.1060_1061insGA	c.(1060-1062)aatfs	p.N354fs	RSPH3_ENST00000367069.2_Frame_Shift_Ins_p.N212fs|RSPH3_ENST00000449822.1_Frame_Shift_Ins_p.N116fs|RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.N258fs	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	354										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGTTCACTATTCCGTAGTTCT	0.431																																						uc003qrx.2		NA																	0				ovary(1)|skin(1)	2						c.(1060-1062)AATfs		radial spoke 3 homolog																																				SO:0001589	frameshift_variant	83861							g.chr6:159403578_159403579insTC	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1059_1060dupGA	6.37:g.159403579_159403580dupTC	ENSP00000252655:p.Asn354fs					RSPH3_uc010kju.2_Frame_Shift_Ins_p.N258fs|RSPH3_uc003qry.1_Frame_Shift_Ins_p.N354fs	p.N354fs	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	5	1250_1251	-		Breast(66;0.00519)|Ovarian(120;0.123)	354			Potential.		Q96LQ5|Q96LX2|Q9BX75	Frame_Shift_Ins	INS	ENST00000252655.1	37	c.1060_1061insGA	CCDS5260.1																																																																																				0.431	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		12	68	NA	NA	NA	NA	12	68	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110460576	110460576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:110460576delT	ENST00000378402.5	+	39	6085	c.5981delT	c.(5980-5982)gtafs	p.V1994fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1994	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCACAGTTGTATTTGAGTAC	0.393										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5980-5982)GTAfs		fibrocystin L precursor							78.0	76.0	77.0					8																	110460576		1926	4152	6078	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460576delT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5981delT	8.37:g.110460576delT	ENSP00000367655:p.Val1994fs	HNSCC(38;0.096)					p.V1994fs	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		39	6085	+			1994			Extracellular (Potential).|IPT/TIG 12.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.5981delT	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	32	NA	NA	NA	NA	8	32	---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35562439	35562439	+	Frame_Shift_Del	DEL	G	G	-	rs77185976	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:35562439delG	ENST00000399742.2	-	5	747	c.677delC	c.(676-678)ccafs	p.P226fs	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	226										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCTGGGAAGTGGGGGGAGATG	0.582																																						uc010mkr.2		NA																	0					0						c.(676-678)CCAfs		hypothetical protein LOC730112 isoform 1							32.0	37.0	35.0					9																	35562439		1986	4166	6152	SO:0001589	frameshift_variant	730112							g.chr9:35562439delG	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.677delC	9.37:g.35562439delG	ENSP00000382646:p.Pro226fs					FAM166B_uc011lov.1_Frame_Shift_Del_p.P214fs|FAM166B_uc011low.1_Frame_Shift_Del_p.H211fs|FAM166B_uc003zwy.2_Frame_Shift_Del_p.P203fs	p.P226fs	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN			5	748	-			226					A1L3B2|B7ZBJ0	Frame_Shift_Del	DEL	ENST00000399742.2	37	c.677delC	CCDS56572.1																																																																																				0.582	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		2	4	NA	NA	NA	NA	2	4	---	---	---	---
AR	367	broad.mit.edu	37	X	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:66765243_66765245delGCA	ENST00000374690.3	+	1	779_781	c.255_257delGCA	c.(253-258)aggcag>agg	p.Q91del	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.Q91del|AR_ENST00000396044.3_In_Frame_Del_p.Q91del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	89	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.631									Androgen Insensitivity Syndrome																													uc004dwu.1		NA																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(253-258)AGGCAG>AGG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)			106,3549		2,75,27,1499,476						1.9	0.0			13	273,6108		4,143,122,2190,1585	no	coding	AR	NM_000044.3		6,218,149,3689,2061	A1A1,A1R,A1,RR,R		4.2783,2.9001,3.7764				379,9657				SO:0001651	inframe_deletion	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765243_66765245delGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.255_257delGCA	X.37:g.66765252_66765254delGCA	ENSP00000363822:p.Gln91del					AR_uc011mpd.1_In_Frame_Del_p.Q91del|AR_uc011mpe.1_RNA|AR_uc011mpf.1_In_Frame_Del_p.Q91del	p.Q91del	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1370_1372	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	89			Poly-Gln.|Modulating.|Gln-rich.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.255_257delGCA	CCDS14387.1																																																																																				0.631	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	5	NA	NA	NA	NA	3	5	---	---	---	---
