#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
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						uc001axk.1																			0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2407-2409)GAGfs		spen homolog, transcriptional regulator																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs					SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	p.E803fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
WDR78	79819	broad.mit.edu	37	1	67313167	67313167	+	Splice_Site	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:67313167C>T	ENST00000371026.3	-	8	1346	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	WDR78_ENST00000371023.3_Splice_Site_p.E431K|WDR78_ENST00000431318.1_Splice_Site_p.E177K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	431	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTAAATACCTTTTAAAACA	0.393																																						uc001dcx.2																			0				ovary(2)	2						c.(1291-1293)GAA>AAA		WD repeat domain 78 isoform 1							36.0	37.0	36.0					1																	67313167		2203	4299	6502	SO:0001630	splice_region_variant	79819							g.chr1:67313167C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1291+1G>A	1.37:g.67313167C>T						WDR78_uc001dcy.2_Missense_Mutation_p.E431K|WDR78_uc009waw.2_Missense_Mutation_p.E177K|WDR78_uc009wax.2_RNA	p.E431K	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			8	1347	-			431			Glu-rich.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1291G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632830	0.87660	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.67698	0.37;-0.26;-0.28;2.12	5.03	5.03	0.67393	.	0.100081	0.64402	D	0.000004	T	0.53706	0.1813	M	0.67953	2.075	0.41277	D	0.986881	B;B;B	0.26876	0.045;0.162;0.083	B;B;B	0.24974	0.057;0.051;0.037	T	0.55159	-0.8184	9	.	.	.	-8.4993	17.478	0.87666	0.0:1.0:0.0:0.0	.	177;431;431	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	K	431;177;197;431	ENSP00000360065:E431K;ENSP00000393182:E177K;ENSP00000433682:E197K;ENSP00000360062:E431K	.	E	-	1	0	WDR78	67085755	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.169000	0.71913	2.496000	0.84212	0.455000	0.32223	GAA		0.393	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Missense_Mutation
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3																			5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
FLG	2312	broad.mit.edu	37	1	152278655	152278655	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:152278655C>T	ENST00000368799.1	-	3	8742	c.8707G>A	c.(8707-8709)Gac>Aac	p.D2903N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2903	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCAGAGTCTTCTGAATGT	0.562									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8707-8709)GAC>AAC		filaggrin							116.0	186.0	164.0					1																	152278655		2032	4296	6328	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278655C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8707G>A	1.37:g.152278655C>T	ENSP00000357789:p.Asp2903Asn						p.D2903N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2903			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8707G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478408	0.26511	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01998	4.51	3.27	2.32	0.28847	.	.	.	.	.	T	0.02970	0.0088	M	0.76002	2.32	0.09310	N	1	D	0.69078	0.997	P	0.60682	0.878	T	0.43327	-0.9398	9	0.30854	T	0.27	.	6.9006	0.24281	0.0:0.8625:0.0:0.1375	.	2903	P20930	FILA_HUMAN	N	2903;165	ENSP00000357789:D2903N	ENSP00000357786:D165N	D	-	1	0	FLG	150545279	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	0.658000	0.30925	0.306000	0.20318	GAC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
OR2W3	343171	broad.mit.edu	37	1	248059605	248059605	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:248059605C>T	ENST00000360358.3	+	1	717	c.717C>T	c.(715-717)ggC>ggT	p.G239G	OR2W3_ENST00000537741.1_Silent_p.G239G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGCCTTCGGCACCTGCGGCT	0.522																																						uc001idp.1																			0				ovary(1)|breast(1)|pancreas(1)	3						c.(715-717)GGC>GGT		olfactory receptor, family 2, subfamily W,							172.0	156.0	161.0					1																	248059605		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059605C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.717C>T	1.37:g.248059605C>T						OR2W3_uc010pzb.1_Silent_p.G239G	p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	986	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		239			Helical; Name=6; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.717C>T	CCDS31099.1																																																																																				0.522	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						uc001jif.2																			1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr					PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	p.A584T	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	2011	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.1750G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
GYLTL1B	120071	broad.mit.edu	37	11	45945056	45945056	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:45945056T>C	ENST00000531526.1	+	3	429	c.318T>C	c.(316-318)caT>caC	p.H106H	GYLTL1B_ENST00000401752.1_Silent_p.H106H|GYLTL1B_ENST00000536139.1_Silent_p.H75H|GYLTL1B_ENST00000325468.5_Silent_p.H106H|GYLTL1B_ENST00000529052.1_Silent_p.H75H|GYLTL1B_ENST00000389968.3_5'UTR	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	106					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.H106Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGCGGGGCATAACTCCAGCC	0.627																																						uc001nbv.1																			1	Substitution - Missense(1)		breast(1)	ovary(2)|central_nervous_system(1)	3						c.(316-318)CAT>CAC		glycosyltransferase-like 1B							140.0	111.0	121.0					11																	45945056		2203	4299	6502	SO:0001819	synonymous_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45945056T>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.318T>C	11.37:g.45945056T>C						GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H|GYLTL1B_uc001nby.1_5'Flank	p.H106H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	3	429	+			106			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	c.318T>C	CCDS31473.1																																																																																				0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
AMBRA1	55626	broad.mit.edu	37	11	46568697	46568697	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:46568697C>A	ENST00000458649.2	-	4	762	c.344G>T	c.(343-345)tGc>tTc	p.C115F	AMBRA1_ENST00000528950.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.C115F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.C115F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.C115F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.C115F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	115					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCATCTAGGCAGCCAGAAGC	0.443																																						uc010rgu.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(343-345)TGC>TTC		activating molecule in beclin-1-regulated							138.0	119.0	126.0					11																	46568697		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46568697C>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.344G>T	11.37:g.46568697C>A	ENSP00000415327:p.Cys115Phe					AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncv.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	4	704	-			115			WD 2.		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.344G>T		.	.	.	.	.	.	.	.	.	.	C	18.33	3.601113	0.66332	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.999;0.997	D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.994;0.996;0.994	T	0.72312	-0.4331	10	0.59425	D	0.04	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	115;115;115;115;115;115	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	F	115	ENSP00000318313:C115F;ENSP00000433372:C115F;ENSP00000431926:C115F;ENSP00000410899:C115F;ENSP00000298834:C115F;ENSP00000415327:C115F;ENSP00000433945:C115F	ENSP00000298834:C115F	C	-	2	0	AMBRA1	46525273	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.467000	0.80930	2.727000	0.93392	0.655000	0.94253	TGC		0.443	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
DDB2	1643	broad.mit.edu	37	11	47254492	47254492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:47254492C>T	ENST00000256996.4	+	4	779	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DDB2_ENST00000378601.3_Missense_Mutation_p.A195V|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.A131V	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	195					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGAGTTTTTGCCAGCTCAGAC	0.453			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(583-585)GCC>GTC	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							163.0	136.0	145.0					11																	47254492		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47254492C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.584C>T	11.37:g.47254492C>T	ENSP00000256996:p.Ala195Val					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.A131V|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.A59V|DDB2_uc001neh.2_RNA	p.A195V	NM_000107	NP_000098	Q92466	DDB2_HUMAN			4	779	+			195			WD 2.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.584C>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233303	0.58886	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378601	T;T;T	0.67171	-0.25;2.81;1.61	5.86	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.416111	0.31041	N	0.008364	T	0.55337	0.1914	L	0.40543	1.245	0.33863	D	0.634005	B;B;B	0.27229	0.066;0.172;0.108	B;B;B	0.17979	0.015;0.02;0.015	T	0.60875	-0.7176	10	0.16896	T	0.51	-10.7256	15.0887	0.72177	0.0:0.9321:0.0:0.0679	.	131;195;195	Q92466-4;Q92466-5;Q92466	.;.;DDB2_HUMAN	V	195;131;195	ENSP00000256996:A195V;ENSP00000367866:A131V;ENSP00000367864:A195V	ENSP00000256996:A195V	A	+	2	0	DDB2	47211068	1.000000	0.71417	0.891000	0.34965	0.990000	0.78478	3.796000	0.55507	1.487000	0.48415	0.655000	0.94253	GCC		0.453	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
INTS5	80789	broad.mit.edu	37	11	62416142	62416142	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:62416142C>A	ENST00000330574.2	-	2	1462	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	470					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAAAGGGCACCAAGCGGGGAG	0.592																																						uc001nud.2																			0				ovary(2)	2						c.(1408-1410)TTG>TTT		integrator complex subunit 5							61.0	66.0	64.0					11																	62416142		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416142C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1410G>T	11.37:g.62416142C>A	ENSP00000327889:p.Leu470Phe					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L470F	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1463	-			470					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1410G>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.247621	0.01469	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.87	-8.75	0.00834	.	0.565694	0.19088	N	0.123058	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.05068	-1.0908	9	0.35671	T	0.21	.	1.5355	0.02544	0.3435:0.2878:0.2475:0.1211	.	470	Q6P9B9	INT5_HUMAN	F	470	.	ENSP00000327889:L470F	L	-	3	2	INTS5	62172718	0.000000	0.05858	0.161000	0.22692	0.258000	0.26162	-1.915000	0.01578	-1.369000	0.02147	-0.302000	0.09304	TTG		0.592	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
KCNK4	50801	broad.mit.edu	37	11	64064379	64064379	+	Silent	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:64064379G>A	ENST00000539216.1	+	2	579	c.219G>A	c.(217-219)gcG>gcA	p.A73A	KCNK4_ENST00000422670.2_Silent_p.A73A|KCNK4_ENST00000538767.1_Missense_Mutation_p.R7Q|KCNK4_ENST00000394525.2_Silent_p.A73A|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|Y_RNA_ENST00000384297.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	73					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GAGGGGGTGCGGACCCAGAAA	0.617																																						uc001nzj.1																			0					0						c.(217-219)GCG>GCA		TRAAK							50.0	59.0	56.0					11																	64064379		2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064379G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.219G>A	11.37:g.64064379G>A						KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|KCNK4_uc001nzp.1_5'UTR	p.A73A	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			3	542	+			73					B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	c.219G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.016839	0.35606	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.3	-6.39	0.01951	.	.	.	.	.	T	0.40645	0.1125	.	.	.	0.47407	D	0.999416	B;B	0.15719	0.001;0.014	B;B	0.06405	0.001;0.002	T	0.07673	-1.0760	7	0.87932	D	0	.	7.5515	0.27800	0.5839:0.0:0.2465:0.1696	.	7;7	B4DJC9;F5GYE0	.;.	Q	7	.	ENSP00000446454:R7Q	R	+	2	0	KCNK4	63820955	0.002000	0.14202	0.206000	0.23566	0.935000	0.57460	-1.286000	0.02788	-0.900000	0.03896	-1.088000	0.02184	CGG		0.617	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311	
IRAK3	11213	broad.mit.edu	37	12	66597538	66597538	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr12:66597538T>C	ENST00000261233.4	+	2	602	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTGAAAAGTATGTAGACCA	0.398																																						uc001sth.2																			0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(181-183)TAT>CAT		interleukin-1 receptor-associated kinase 3							82.0	78.0	79.0					12																	66597538		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597538T>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.181T>C	12.37:g.66597538T>C	ENSP00000261233:p.Tyr61His					IRAK3_uc010ssy.1_Intron	p.Y61H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	283	+			61			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.181T>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.343946	0.24339	.	.	ENSG00000090376	ENST00000261233	T	0.59772	0.24	5.81	3.4	0.38934	Death (3);DEATH-like (2);	0.284442	0.30036	N	0.010566	T	0.49270	0.1547	L	0.56769	1.78	0.80722	D	1	B	0.21071	0.051	B	0.26864	0.074	T	0.33033	-0.9884	9	.	.	.	-17.3114	6.1874	0.20506	0.0:0.0831:0.1612:0.7557	.	61	Q9Y616	IRAK3_HUMAN	H	61	ENSP00000261233:Y61H	.	Y	+	1	0	IRAK3	64883805	0.997000	0.39634	0.782000	0.31804	0.323000	0.28346	1.526000	0.35964	0.441000	0.26529	-0.438000	0.05819	TAT		0.398	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
STK24	8428	broad.mit.edu	37	13	99127230	99127230	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr13:99127230C>T	ENST00000376547.3	-	5	623	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	STK24_ENST00000539966.1_Missense_Mutation_p.A129T|STK24_ENST00000397517.2_Missense_Mutation_p.A148T	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACGTTGGCCGCTGCAAAA	0.627																																						uc001vnm.1																			0				ovary(1)|lung(1)	2						c.(478-480)GCC>ACC		serine/threonine kinase 24 isoform a							39.0	38.0	38.0					13																	99127230		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127230C>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.478G>A	13.37:g.99127230C>T	ENSP00000365730:p.Ala160Thr					STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	p.A160T	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	713	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		160			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.478G>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.478873|5.478873	0.96291|0.96291	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.53938|.	U|.	0.000053|.	T|T	0.75095|0.75095	0.3803|0.3803	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.983;1.0;1.0|.	T|T	0.75519|0.75519	-0.3289|-0.3289	10|5	0.87932|.	D|.	0|.	.|.	18.1019|18.1019	0.89508|0.89508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;148;160|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	T|D	148;160;129;136;148|65	ENSP00000380651:A148T;ENSP00000365730:A160T;ENSP00000442539:A129T|.	ENSP00000365716:A136T|.	A|G	-|-	1|2	0|0	STK24|STK24	97925231|97925231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	7.511000|7.511000	0.81718|0.81718	2.348000|2.348000	0.79779|0.79779	0.549000|0.549000	0.68633|0.68633	GCC|GGC		0.627	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576	
POTEG	404785	broad.mit.edu	37	14	19566050	19566050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:19566050T>C	ENST00000409832.3	+	6	1146	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	365				M -> I (in Ref. 1; AAS58868). {ECO:0000305}.						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAAAAACAGATGCTAAAAGTC	0.318																																						uc001vuz.1																			0				ovary(1)	1						c.(1093-1095)ATG>ACG		POTE ankyrin domain family, member G							83.0	97.0	92.0					14																	19566050		1508	2698	4206	SO:0001583	missense	404785							g.chr14:19566050T>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1094T>C	14.37:g.19566050T>C	ENSP00000386971:p.Met365Thr					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	p.M365T	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			6	1146	+			365	M -> I (in Ref. 1; AAS58868).				A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1094T>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	t	1.814	-0.473961	0.04414	.	.	ENSG00000222036	ENST00000409832	T	0.26223	1.75	2.2	-4.4	0.03600	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.06872	0.0175	N	0.01874	-0.695	0.09310	N	1	P	0.42161	0.772	B	0.40444	0.329	T	0.14839	-1.0458	9	0.14252	T	0.57	.	2.8075	0.05431	0.4283:0.0:0.2254:0.3463	.	365	Q6S5H5	POTEG_HUMAN	T	365	ENSP00000386971:M365T	ENSP00000386971:M365T	M	+	2	0	POTEG	18636050	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.185000	0.03073	-1.464000	0.01902	0.155000	0.16302	ATG		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
NFATC4	4776	broad.mit.edu	37	14	24838971	24838971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:24838971C>T	ENST00000250373.4	+	2	508	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	NFATC4_ENST00000424781.2_Missense_Mutation_p.P136S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P111S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P136S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P186S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P155S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P155S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P53S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P53S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P136S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P53S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P155S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P123S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P186S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P123S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P111S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P111S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553879.1_Missense_Mutation_p.P53S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	123	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTCCATCTCTCCCACGCCGGA	0.677																																						uc001wpc.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(367-369)CCC>TCC		nuclear factor of activated T-cells,							9.0	11.0	10.0					14																	24838971		2173	4245	6418	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838971C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.367C>T	14.37:g.24838971C>T	ENSP00000250373:p.Pro123Ser					NFATC4_uc010tok.1_Missense_Mutation_p.P186S|NFATC4_uc010tol.1_Missense_Mutation_p.P186S|NFATC4_uc010alr.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.1_Missense_Mutation_p.P136S|NFATC4_uc010ton.1_Missense_Mutation_p.P136S|NFATC4_uc010too.1_Missense_Mutation_p.P136S|NFATC4_uc010alt.2_Missense_Mutation_p.P155S|NFATC4_uc010top.1_Missense_Mutation_p.P155S|NFATC4_uc010toq.1_Missense_Mutation_p.P155S|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.P123S|NFATC4_uc010tos.1_Missense_Mutation_p.P53S|NFATC4_uc010tot.1_Missense_Mutation_p.P111S|NFATC4_uc010tou.1_Missense_Mutation_p.P53S|NFATC4_uc010tov.1_Missense_Mutation_p.P111S|NFATC4_uc010tow.1_Missense_Mutation_p.P53S|NFATC4_uc010alv.2_Missense_Mutation_p.P111S|NFATC4_uc010tox.1_Missense_Mutation_p.P53S	p.P123S	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	688	+			123			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.367C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836653	0.50951	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	3.76	2.85	0.33270	.	0.085528	0.46442	D	0.000293	T	0.25232	0.0613	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.60160	0.985;0.959;0.985;0.985;0.985;0.959;0.959;0.985;0.985;0.959;0.985;0.987;0.985;0.931	P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.56612	0.595;0.456;0.595;0.456;0.595;0.456;0.456;0.595;0.595;0.456;0.456;0.802;0.595;0.268	T	0.01140	-1.1439	10	0.54805	T	0.06	-4.9353	10.2072	0.43120	0.2008:0.7992:0.0:0.0	.	111;111;155;155;136;136;136;186;186;111;155;100;186;123	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	186;186;136;136;136;155;155;155;123;123;123;123;100;53;53;53;111;53;111;111	ENSP00000388910:P186S;ENSP00000452039:P186S;ENSP00000451224:P136S;ENSP00000450644:P136S;ENSP00000388668:P136S;ENSP00000439350:P155S;ENSP00000452270:P155S;ENSP00000451502:P155S;ENSP00000451151:P123S;ENSP00000451853:P123S;ENSP00000250373:P123S;ENSP00000450590:P123S;ENSP00000452352:P100S;ENSP00000452349:P53S;ENSP00000450469:P53S;ENSP00000450733:P53S;ENSP00000451454:P111S;ENSP00000451284:P53S;ENSP00000396788:P111S;ENSP00000450686:P111S	ENSP00000250373:P123S	P	+	1	0	NFATC4	23908811	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	4.937000	0.63513	0.776000	0.33473	-0.318000	0.08688	CCC		0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
MLH3	27030	broad.mit.edu	37	14	75514227	75514227	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:75514227G>C	ENST00000556740.1	-	1	2167	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.S711C|MLH3_ENST00000238662.7_Missense_Mutation_p.S711C|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S711C|MLH3_ENST00000380968.2_De_novo_Start_OutOfFrame			Q9UHC1	MLH3_HUMAN	mutL homolog 3	711					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGATGTATCAGATAATATGCA	0.363								Mismatch excision repair (MMR)																														uc001xrd.1																			0				ovary(1)|skin(1)	2						c.(2131-2133)TCT>TGT	MMR	mutL homolog 3 isoform 1							90.0	90.0	90.0					14																	75514227		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514227G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2132C>G	14.37:g.75514227G>C	ENSP00000452316:p.Ser711Cys					MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_RNA	p.S711C	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2348	-			711					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2132C>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301713	0.23736	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	6.07	2.05	0.26809	.	0.950782	0.08858	N	0.883455	T	0.31979	0.0814	L	0.29908	0.895	0.09310	N	1	D;P	0.58970	0.984;0.906	P;B	0.50192	0.634;0.43	T	0.13548	-1.0505	10	0.44086	T	0.13	-0.7871	4.6688	0.12678	0.3146:0.0:0.539:0.1464	.	711;711	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	C	711	ENSP00000348020:S711C;ENSP00000238662:S711C;ENSP00000451540:S711C;ENSP00000452316:S711C	ENSP00000238662:S711C	S	-	2	0	MLH3	74583980	0.000000	0.05858	0.008000	0.14137	0.120000	0.20174	0.162000	0.16501	0.376000	0.24707	0.655000	0.94253	TCT		0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						uc010vbl.1																			0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370	
PKD1L2	114780	broad.mit.edu	37	16	81134885	81134885	+	RNA	SNP	G	G	A	rs201386227		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:81134885G>A	ENST00000534142.1	-	0	1610				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTTCCTCCGACAGCTGCAA	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15953	0.0		0.0	False		,,,				2504	0.0					uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(7222-7224)TCG>TTG		polycystin 1-like 2 isoform a		G	LEU/SER	7,3841		0,7,1917	38.0	38.0	38.0		7222	3.6	0.0	16		38	5,8281		0,5,4138	yes	missense	PKD1L2	NM_052892.3	145	0,12,6055	AA,AG,GG		0.0603,0.1819,0.0989	probably-damaging	2408/2460	81134885	12,12122	1924	4143	6067			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81134885G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81134885G>A						PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_RNA	p.S2408L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			45	7223	-			2408			Extracellular (Potential).|Interaction with GNAS and GNAI1.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.7223C>T																																																																																					0.443	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		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		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|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	GRCh37	CM971503	TP53	M		c.(406-408)CAA>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>C	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.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	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.Q136E|TP53_uc002gih.2_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.1_Missense_Mutation_p.Q97E	p.Q136E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	600	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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	SNP	ENST00000269305.4	37	c.406C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLC35G3	146861	broad.mit.edu	37	17	33520927	33520927	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:33520927G>A	ENST00000297307.5	-	1	485	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	134	EamA 1.					integral component of membrane (GO:0016021)											GAACCTTTGCGAACAGTGGCA	0.607																																						uc002hjd.2																			0					0						c.(400-402)CGC>TGC		acyl-malonyl condensing enzyme 1							144.0	138.0	140.0					17																	33520927		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520927G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.400C>T	17.37:g.33520927G>A	ENSP00000297307:p.Arg134Cys						p.R134C	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	486	-			134			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.400C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.617938	0.14129	.	.	ENSG00000164729	ENST00000297307	T	0.69040	-0.37	.	.	.	.	0.000000	0.48286	D	0.000199	T	0.43678	0.1258	N	0.24115	0.695	0.42578	D	0.993206	B	0.13594	0.008	B	0.10450	0.005	T	0.11690	-1.0577	9	0.38643	T	0.18	-7.8871	2.6646	0.05037	0.4962:0.0:0.5037:0.0	.	134	Q8N808	S35G3_HUMAN	C	134	ENSP00000297307:R134C	ENSP00000297307:R134C	R	-	1	0	SLC35G3	30545040	1.000000	0.71417	0.282000	0.24776	0.284000	0.27059	1.146000	0.31589	0.064000	0.16427	0.064000	0.15345	CGC		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
SPATA20	64847	broad.mit.edu	37	17	48626428	48626428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:48626428C>T	ENST00000356488.4	+	5	576	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	SPATA20_ENST00000393244.3_Missense_Mutation_p.P121S|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.P181S	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	165					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGGGGCTGGCCCATGAATGT	0.657																																						uc002irf.2																			0					0						c.(493-495)CCC>TCC		spermatogenesis associated 20							37.0	41.0	39.0					17																	48626428		2202	4300	6502	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48626428C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.493C>T	17.37:g.48626428C>T	ENSP00000348878:p.Pro165Ser					SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.P121S|SPATA20_uc002ird.2_Missense_Mutation_p.P181S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.2_RNA	p.P165S	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		5	634	+	Breast(11;1.23e-18)		165					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.493C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253359	0.95336	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	D;D;D	0.87729	-2.29;-2.29;-2.29	4.92	4.92	0.64577	Thioredoxin-like fold (2);Domain of unknown function DUF255 (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99198	1.0872	10	0.87932	D	0	-17.821	18.1114	0.89537	0.0:1.0:0.0:0.0	.	191;165;181	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	S	181;165;121	ENSP00000006658:P181S;ENSP00000348878:P165S;ENSP00000376935:P121S	ENSP00000006658:P181S	P	+	1	0	SPATA20	45981427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.567000	0.82357	2.282000	0.76494	0.561000	0.74099	CCC		0.657	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827	
TYK2	7297	broad.mit.edu	37	19	10473108	10473108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:10473108G>A	ENST00000525621.1	-	11	1982	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	TYK2_ENST00000529370.1_Missense_Mutation_p.R501W|TYK2_ENST00000264818.6_Missense_Mutation_p.R501W|TYK2_ENST00000524462.1_Missense_Mutation_p.R316W	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	501	SH2; atypical.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTTCGGAGCCGCAAGCTCTGC	0.677																																						uc002moc.3																			0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1501-1503)CGG>TGG		tyrosine kinase 2							22.0	25.0	24.0					19																	10473108		2201	4300	6501	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10473108G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1501C>T	19.37:g.10473108G>A	ENSP00000431885:p.Arg501Trp					TYK2_uc010dxe.2_Missense_Mutation_p.R316W|TYK2_uc002mod.2_Missense_Mutation_p.R501W	p.R501W	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		11	1879	-			501			SH2; atypical.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1501C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862818	0.51482	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.98	2.83	0.33086	SH2 motif (2);	0.649699	0.13511	N	0.382509	T	0.14614	0.0353	L	0.40543	1.245	0.09310	N	1	D;D	0.76494	0.999;0.991	P;P	0.53146	0.719;0.462	T	0.12734	-1.0536	10	0.39692	T	0.17	-24.4077	7.6874	0.28548	0.0874:0.0:0.7496:0.1631	.	501;501	E9PPF2;P29597	.;TYK2_HUMAN	W	316;501;501;248;501	ENSP00000433203:R316W;ENSP00000431885:R501W;ENSP00000264818:R501W;ENSP00000432728:R501W	ENSP00000264818:R501W	R	-	1	2	TYK2	10334108	0.007000	0.16637	0.003000	0.11579	0.002000	0.02628	1.071000	0.30666	0.511000	0.28236	-0.310000	0.09108	CGG		0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:35232200T>G	ENST00000492450.1	+	4	1003	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_ENST00000459757.2_Missense_Mutation_p.V304G|ZNF181_ENST00000392232.3_Missense_Mutation_p.V349G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413													T|||	3	0.000599042	0.0	0.0	5008	,	,		22105	0.002		0.0	False		,,,				2504	0.001					uc002nvu.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(913-915)GTC>GGC		zinc finger protein 181 isoform 1							91.0	88.0	89.0					19																	35232200		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232200T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.914T>G	19.37:g.35232200T>G	ENSP00000420727:p.Val305Gly					ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	p.V305G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1377	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		305			C2H2-type 3.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.914T>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	1.102	-0.660828	0.03454	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.38560	2.43;1.13;1.13	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.10733	0.035	0.09310	N	0.999999	P;B	0.38978	0.652;0.0	B;B	0.30179	0.112;0.001	T	0.04017	-1.0984	9	0.22109	T	0.4	.	5.4169	0.16378	0.2509:0.0:0.0:0.749	.	304;305	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	G	349;304;305;304	ENSP00000376065:V349G;ENSP00000420727:V305G;ENSP00000419435:V304G	ENSP00000376065:V349G	V	+	2	0	ZNF181	39924040	0.000000	0.05858	0.880000	0.34516	0.765000	0.43378	-0.861000	0.04268	1.565000	0.49641	0.402000	0.26972	GTC		0.413	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	
KIAA1211L	343990	broad.mit.edu	37	2	99438353	99438353	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:99438353T>C	ENST00000397899.2	-	7	2714	c.2383A>G	c.(2383-2385)Acg>Gcg	p.T795A		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	795	Pro-rich.																TTCTCCGCCGTCCTGGGCTCC	0.721																																						uc002szf.1																			0					0						c.(2383-2385)ACG>GCG		hypothetical protein LOC343990							14.0	16.0	15.0					2																	99438353		1864	4099	5963	SO:0001583	missense	343990							g.chr2:99438353T>C	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2383A>G	2.37:g.99438353T>C	ENSP00000380996:p.Thr795Ala						p.T795A	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			7	2677	-			795			Pro-rich.			Missense_Mutation	SNP	ENST00000397899.2	37	c.2383A>G	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303145	0.23736	.	.	ENSG00000196872	ENST00000397899	T	0.41400	1.0	3.97	-7.68	0.01268	.	3.904070	0.00772	N	0.001202	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28996	-1.0026	10	0.07030	T	0.85	0.0051	8.2285	0.31584	0.0:0.5385:0.2809:0.1806	.	795	Q6NV74	CB055_HUMAN	A	795	ENSP00000380996:T795A	ENSP00000380996:T795A	T	-	1	0	C2orf55	98804785	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.069000	0.03444	-1.512000	0.01791	0.378000	0.23410	ACG		0.721	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	
ST6GAL2	84620	broad.mit.edu	37	2	107460277	107460277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:107460277G>A	ENST00000409382.3	-	2	767	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P53S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P53S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	53					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCTGCACCGGCAGGAGCCTC	0.682																																						uc002tdq.2																			0				pancreas(6)|ovary(4)|skin(1)	11						c.(157-159)CCG>TCG		ST6 beta-galactosamide							15.0	19.0	18.0					2																	107460277		2196	4291	6487	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460277G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.157C>T	2.37:g.107460277G>A	ENSP00000386942:p.Pro53Ser					ST6GAL2_uc002tdr.2_Missense_Mutation_p.P53S|ST6GAL2_uc002tds.3_Missense_Mutation_p.P53S	p.P53S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	276	-			53			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.157C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689224	0.68271	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.26518	2.8;2.8;1.73	5.74	5.74	0.90152	.	0.049989	0.85682	D	0.000000	T	0.32526	0.0832	L	0.28458	0.855	0.54753	D	0.999984	P;P	0.51537	0.946;0.911	P;P	0.52758	0.708;0.514	T	0.00814	-1.1555	10	0.31617	T	0.26	-34.5678	18.8932	0.92413	0.0:0.0:1.0:0.0	.	53;53	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	53	ENSP00000355273:P53S;ENSP00000386942:P53S;ENSP00000387332:P53S	ENSP00000355273:P53S	P	-	1	0	ST6GAL2	106826709	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	5.556000	0.67307	2.701000	0.92244	0.655000	0.94253	CCG		0.682	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
RIF1	55183	broad.mit.edu	37	2	152322631	152322631	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:152322631T>C	ENST00000243326.5	+	29	7080	c.6597T>C	c.(6595-6597)aaT>aaC	p.N2199N	RIF1_ENST00000428287.2_Silent_p.N2199N|RIF1_ENST00000444746.2_Silent_p.N2199N|RIF1_ENST00000453091.2_Silent_p.N2199N|RIF1_ENST00000430328.2_Silent_p.N2199N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCTGTTAATAAGGTAAGGG	0.398																																						uc002txm.2																			0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(6595-6597)AAT>AAC		RAP1 interacting factor 1							50.0	53.0	52.0					2																	152322631		2201	4298	6499	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322631T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6597T>C	2.37:g.152322631T>C						RIF1_uc002txl.2_Silent_p.N2199N|RIF1_uc002txn.2_Silent_p.N2199N|RIF1_uc002txo.2_Silent_p.N2199N|RIF1_uc002txp.2_RNA	p.N2199N	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	6727	+			2199			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.6597T>C	CCDS2194.1																																																																																				0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(394-396)CGT>CAT		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
RUFY4	285180	broad.mit.edu	37	2	218940356	218940356	+	Missense_Mutation	SNP	G	G	A	rs369707895		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:218940356G>A	ENST00000344321.7	+	9	1659	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.A401T|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	381							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGACACGCAACAAAGGA	0.622																																						uc002vgw.2																			0				pancreas(1)	1						c.(622-624)GCA>ACA		RUN and FYVE domain containing 4							52.0	53.0	53.0					2																	218940356		1956	4134	6090	SO:0001583	missense	285180						metal ion binding	g.chr2:218940356G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1141G>A	2.37:g.218940356G>A	ENSP00000345900:p.Ala381Thr					RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.A208T	p.A208T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	2466	+		Renal(207;0.0915)	381					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.622G>A		.	.	.	.	.	.	.	.	.	.	G	9.553	1.116399	0.20795	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.48201	1.47;0.82	4.41	2.6	0.31112	.	0.887992	0.09459	N	0.799378	T	0.21841	0.0526	N	0.02539	-0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.18429	-1.0337	10	0.11794	T	0.64	-1.1496	10.7557	0.46234	0.1031:0.0:0.8969:0.0	.	381	Q6ZNE9	RUFY4_HUMAN	T	381;401	ENSP00000345900:A381T;ENSP00000363270:A401T	ENSP00000345900:A381T	A	+	1	0	RUFY4	218648601	0.088000	0.21588	0.001000	0.08648	0.001000	0.01503	1.509000	0.35780	0.483000	0.27608	-1.314000	0.01303	GCA		0.622	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
CHRND	1144	broad.mit.edu	37	2	233392979	233392979	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:233392979C>A	ENST00000258385.3	+	4	283	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.T84K|CHRND_ENST00000543200.1_Missense_Mutation_p.T69K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	84					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGGGCTGGACAGACAACCGG	0.577																																						uc002vsw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(250-252)ACA>AAA		nicotinic acetylcholine receptor delta							97.0	96.0	96.0					2																	233392979		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233392979C>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.251C>A	2.37:g.233392979C>A	ENSP00000258385:p.Thr84Lys					CHRND_uc010zmg.1_Missense_Mutation_p.T69K|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	p.T84K	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	4	255	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	84			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.251C>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303566	0.23736	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.16	2.32	0.28847	Neurotransmitter-gated ion-channel ligand-binding (3);	0.426860	0.24823	N	0.035315	T	0.59404	0.2191	L	0.28274	0.84	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.17433	0.018;0.018	T	0.42632	-0.9440	10	0.21540	T	0.41	.	4.9008	0.13773	0.1696:0.6556:0.0:0.1748	.	69;84	B4DT92;Q07001	.;ACHD_HUMAN	K	69;69;84;84	ENSP00000404950:T69K;ENSP00000438380:T69K;ENSP00000258385:T84K;ENSP00000437740:T84K	ENSP00000258385:T84K	T	+	2	0	CHRND	233101223	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	-0.721000	0.04963	0.510000	0.28216	0.561000	0.74099	ACA		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
FARP2	9855	broad.mit.edu	37	2	242423744	242423744	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:242423744C>T	ENST00000264042.3	+	21	2589	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	807	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCAAGGCATGCTGGTGAGTGG	0.587																																						uc002wbi.1																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2419-2421)CTG>TTG		FERM, RhoGEF and pleckstrin domain protein 2							69.0	67.0	68.0					2																	242423744		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242423744C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2419C>T	2.37:g.242423744C>T							p.L807L	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	21	2536	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	807			PH 1.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2419C>T	CCDS33424.1																																																																																				0.587	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
CDH4	1002	broad.mit.edu	37	20	60504710	60504710	+	Silent	SNP	C	C	T	rs201703403		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr20:60504710C>T	ENST00000360469.5	+	13	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_ENST00000543233.1_Silent_p.A609A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A683A(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547																																						uc002ybn.1																			2	Substitution - coding silent(2)		breast(2)	lung(3)|ovary(2)|skin(1)	6						c.(2047-2049)GCC>GCT		cadherin 4, type 1 preproprotein							140.0	105.0	117.0					20																	60504710		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504710C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2049C>T	20.37:g.60504710C>T						CDH4_uc002ybp.1_Silent_p.A609A	p.A683A	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2063	+			683			Extracellular (Potential).|Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2049C>T	CCDS13488.1																																																																																				0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TSPEAR	54084	broad.mit.edu	37	21	45987844	45987845	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:45987844_45987845CC>AG	ENST00000323084.4	-	2	192_193	c.127_128GG>CT	c.(127-129)GGc>CTc	p.G43L	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	43					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTTGTGGCGCCATCAGAAGGG	0.604																																						uc002zfe.1																			0					0						c.(127-129)GGC>CTC		chromosome 21 open reading frame 29 precursor																																				SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987844_45987845CC>AG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.127_128delinsAG	21.37:g.45987844_45987845delinsAG	ENSP00000321987:p.Gly43Leu					C21orf29_uc010gpv.1_5'UTR	p.G43L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			2	193_194	-			43						Missense_Mutation	DNP	ENST00000323084.4	37	c.127_128GG>CT	CCDS13712.1																																																																																				0.604	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
KRTAP12-4	386684	broad.mit.edu	37	21	46074201	46074201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:46074201C>T	ENST00000391618.1	-	1	375	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	111						keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						GCTCAGCAGCCAGTGGGGGTG	0.622																																						uc002zfs.1																			0				ovary(1)	1						c.(331-333)GGC>AGC		keratin associated protein 12-4							26.0	32.0	30.0					21																	46074201		2004	4174	6178	SO:0001583	missense	386684					keratin filament		g.chr21:46074201C>T	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.331G>A	21.37:g.46074201C>T	ENSP00000375476:p.Gly111Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.G111S	NM_198698	NP_941971	P60329	KR124_HUMAN			1	376	-			111					Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.331G>A	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	c	2.657	-0.280614	0.05642	.	.	ENSG00000212933	ENST00000391618	T	0.01767	4.65	3.81	2.64	0.31445	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47749	-0.9093	9	0.62326	D	0.03	.	7.4261	0.27100	0.7769:0.2231:0.0:0.0	.	111	P60329	KR124_HUMAN	S	111	ENSP00000375476:G111S	ENSP00000375476:G111S	G	-	1	0	KRTAP12-4	44898629	0.000000	0.05858	0.116000	0.21606	0.008000	0.06430	-0.212000	0.09319	0.631000	0.30412	-0.541000	0.04245	GGC		0.622	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1		
DLEC1	9940	broad.mit.edu	37	3	38151764	38151764	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:38151764G>C	ENST00000308059.6	+	23	3456	c.3435G>C	c.(3433-3435)aaG>aaC	p.K1145N	DLEC1_ENST00000346219.3_Missense_Mutation_p.K1145N|DLEC1_ENST00000452631.2_Missense_Mutation_p.K1148N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGCAAAAAGACCAGCCTGT	0.542																																						uc003cho.1																			0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3433-3435)AAG>AAC		deleted in lung and esophageal cancer 1 isoform							69.0	76.0	74.0					3																	38151764		1944	4150	6094	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38151764G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3435G>C	3.37:g.38151764G>C	ENSP00000308597:p.Lys1145Asn					DLEC1_uc003chp.1_Missense_Mutation_p.K1145N|DLEC1_uc010hgv.1_Missense_Mutation_p.K1148N|DLEC1_uc003chr.1_Missense_Mutation_p.K251N|DLEC1_uc010hgx.1_RNA	p.K1145N	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	23	3456	+			1145						Missense_Mutation	SNP	ENST00000308059.6	37	c.3435G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205231	0.58234	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05717	3.42;3.4;3.65	5.13	-3.9	0.04181	.	0.922170	0.09192	N	0.835869	T	0.05181	0.0138	L	0.48642	1.525	0.09310	N	1	P;B;B;P	0.38767	0.646;0.023;0.141;0.646	B;B;B;B	0.38327	0.271;0.039;0.078;0.271	T	0.37709	-0.9694	10	0.20046	T	0.44	-13.4811	5.1599	0.15056	0.2688:0.1041:0.5227:0.1045	.	1148;1145;1145;1145	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	N	1145;1145;1148	ENSP00000308597:K1145N;ENSP00000315914:K1145N;ENSP00000410427:K1148N	ENSP00000308597:K1145N	K	+	3	2	DLEC1	38126768	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-1.072000	0.03434	-0.592000	0.05851	-0.182000	0.12963	AAG		0.542	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
CCR3	1232	broad.mit.edu	37	3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A	rs199944063		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:46307517G>A	ENST00000357422.2	+	4	1411	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	CCR3_ENST00000541018.1_Missense_Mutation_p.A290T|CCR3_ENST00000395940.2_Missense_Mutation_p.A290T|CCR3_ENST00000545097.1_Missense_Mutation_p.A311T|CCR3_ENST00000395942.2_Missense_Mutation_p.A290T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	290					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522																																						uc003cpg.1																			0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(868-870)GCC>ACC		CC chemokine receptor 3 isoform 1							124.0	104.0	110.0					3																	46307517		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307517G>A	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.868G>A	3.37:g.46307517G>A	ENSP00000350003:p.Ala290Thr					CCR3_uc003cpi.1_Missense_Mutation_p.A290T|CCR3_uc003cpj.1_Missense_Mutation_p.A290T|CCR3_uc003cpk.1_Missense_Mutation_p.A311T|CCR3_uc010hjb.1_Missense_Mutation_p.A308T|CCR3_uc003cpl.1_Missense_Mutation_p.A323T	p.A290T	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1411	+			290			Helical; Name=7; (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.868G>A	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087145	0.55968	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.73	-0.946	0.10385	GPCR, rhodopsin-like superfamily (1);	0.474665	0.18676	N	0.134312	T	0.48892	0.1525	M	0.86420	2.815	0.21256	N	0.999742	D;D	0.54964	0.962;0.969	P;P	0.51742	0.55;0.678	T	0.44498	-0.9324	10	0.56958	D	0.05	.	1.7135	0.02896	0.2082:0.0981:0.2695:0.4241	.	311;290	F5GWL6;P51677	.;CCR3_HUMAN	T	290;311;290;290;290	ENSP00000350003:A290T;ENSP00000441600:A311T;ENSP00000440097:A290T;ENSP00000379271:A290T;ENSP00000379273:A290T	ENSP00000350003:A290T	A	+	1	0	CCR3	46282521	0.978000	0.34361	0.809000	0.32408	0.505000	0.33919	2.071000	0.41500	-0.249000	0.09569	0.655000	0.94253	GCC		0.522	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2		
DNAH1	25981	broad.mit.edu	37	3	52417902	52417902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:52417902G>A	ENST00000420323.2	+	52	8438	c.8177G>A	c.(8176-8178)cGt>cAt	p.R2726H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2726	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCCGAGCTCGTCTGAGGCAG	0.587																																						uc011bef.1																			0				large_intestine(3)	3						c.(8176-8178)CGT>CAT		dynein, axonemal, heavy chain 1							42.0	44.0	43.0					3																	52417902		1984	4167	6151	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417902G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8177G>A	3.37:g.52417902G>A	ENSP00000401514:p.Arg2726His					DNAH1_uc003ddv.2_5'Flank	p.R2726H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	52	8438	+			2726			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8177G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883422	0.91740	.	.	ENSG00000114841	ENST00000420323	T	0.57273	0.41	4.19	3.32	0.38043	.	0.000000	0.50627	D	0.000106	T	0.78110	0.4232	H	0.95004	3.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.83111	-0.0123	10	0.87932	D	0	.	11.9394	0.52892	0.0844:0.0:0.9156:0.0	.	2726	C9JXH6	.	H	2726	ENSP00000401514:R2726H	ENSP00000401514:R2726H	R	+	2	0	DNAH1	52392942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.522000	0.73783	0.999000	0.39023	0.655000	0.94253	CGT		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
PPP2R3A	5523	broad.mit.edu	37	3	135721982	135721982	+	Missense_Mutation	SNP	G	G	A	rs371563412	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:135721982G>A	ENST00000264977.3	+	2	2259	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	548					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTTGACCGGTCAGACCCT	0.398													G|||	7	0.00139776	0.0	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.0072					uc003eqv.1																			0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1642-1644)GGT>AGT		protein phosphatase 2, regulatory subunit B'',		G	,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		,1642	4.6	0.8	3		56	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4	,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,benign	,548/1151	135721982	3,13003	2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721982G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1642G>A	3.37:g.135721982G>A	ENSP00000264977:p.Gly548Ser					PPP2R3A_uc011blz.1_Intron	p.G548S	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	2207	+			548					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1642G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	0.919	-0.716404	0.03206	2.27E-4	2.33E-4	ENSG00000073711	ENST00000264977	T	0.05382	3.45	5.52	4.64	0.57946	.	1.753360	0.02533	N	0.093765	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.06405	0.002	T	0.29027	-1.0025	10	0.35671	T	0.21	.	8.2279	0.31579	0.1871:0.0:0.8129:0.0	.	548	Q06190	P2R3A_HUMAN	S	548	ENSP00000264977:G548S	ENSP00000264977:G548S	G	+	1	0	PPP2R3A	137204672	0.002000	0.14202	0.825000	0.32803	0.063000	0.16089	1.263000	0.33004	1.329000	0.45376	0.462000	0.41574	GGT		0.398	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:178936083A>T	ENST00000263967.3	+	10	1782	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		13	Substitution - Missense(13)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	large_intestine(5)|endometrium(5)|breast(2)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>GTA		phosphoinositide-3-kinase, catalytic, alpha							57.0	57.0	57.0					3																	178936083		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936083A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1625A>T	3.37:g.178936083A>T	ENSP00000263967:p.Glu542Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1625A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693417	0.88735	.	.	ENSG00000121879	ENST00000263967	T	0.65364	-0.15	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.69135	-0.5225	10	0.33141	T	0.24	-23.9623	16.1026	0.81194	1.0:0.0:0.0:0.0	.	542	P42336	PK3CA_HUMAN	V	542	ENSP00000263967:E542V	ENSP00000263967:E542V	E	+	2	0	PIK3CA	180418777	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LEPREL1	55214	broad.mit.edu	37	3	189681756	189681756	+	Silent	SNP	A	A	G	rs578158144		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:189681756A>G	ENST00000319332.5	-	14	2222	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	LEPREL1_ENST00000427335.2_Silent_p.Y494Y	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	675					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAATTCTCTATAAAGTGGGT	0.483																																						uc011bsk.1																			0				breast(3)|ovary(1)	4						c.(2023-2025)TAT>TAC		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						107.0	106.0	106.0					3																	189681756		2203	4300	6503	SO:0001819	synonymous_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189681756A>G		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.2025T>C	3.37:g.189681756A>G						LEPREL1_uc003fsg.2_Silent_p.Y494Y	p.Y675Y	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	14	2413	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		675					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	c.2025T>C	CCDS3294.1																																																																																				0.483	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512																																						uc003jdl.2																			0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2422-2424)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1							97.0	94.0	95.0					5																	5239938		1859	4088	5947	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239938G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2423G>A	5.37:g.5239938G>A	ENSP00000274181:p.Arg808Gln					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2561	+			808			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2423G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	ADAMTS16	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
SKP2	6502	broad.mit.edu	37	5	36171807	36171807	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:36171807C>A	ENST00000274255.6	+	7	1069	c.873C>A	c.(871-873)agC>agA	p.S291R	SKP2_ENST00000274254.5_Missense_Mutation_p.S291R|SKP2_ENST00000546211.1_Missense_Mutation_p.S77R|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAATCTTAGCGGCTACAGAA	0.463																																						uc003jkc.1																			0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(871-873)AGC>AGA		S-phase kinase-associated protein 2 isoform 1							109.0	104.0	105.0					5																	36171807		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36171807C>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.873C>A	5.37:g.36171807C>A	ENSP00000274255:p.Ser291Arg					SKP2_uc011cou.1_Missense_Mutation_p.S77R|SKP2_uc003jkd.2_Missense_Mutation_p.S291R	p.S291R	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1055	+	all_lung(31;5.63e-05)		291			LRR 6.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.873C>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723462	0.68959	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.63	-8.64	0.00874	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.82056	2.57	0.48341	D	0.999632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.80065	-0.1538	10	0.15952	T	0.53	-22.5399	19.0801	0.93178	0.0:0.1357:0.0:0.8643	.	77;291;291	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	R	291;291;257;246;77	ENSP00000274254:S291R;ENSP00000274255:S291R;ENSP00000423188:S246R;ENSP00000443492:S77R	ENSP00000274254:S291R	S	+	3	2	SKP2	36207564	0.492000	0.26027	0.195000	0.23364	0.892000	0.51952	-0.662000	0.05305	-1.737000	0.01350	-1.202000	0.01658	AGC		0.463	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983	
HCN1	348980	broad.mit.edu	37	5	45695974	45695974	+	Silent	SNP	G	G	C	rs56063136|rs56060059		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:45695974G>C	ENST00000303230.4	-	1	279	c.222C>G	c.(220-222)ggC>ggG	p.G74G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	74	Gly-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGGCTCCTcgccgccgccgc	0.766																																						uc003jok.2																			0				ovary(1)	1						c.(220-222)GGC>GGG		hyperpolarization activated cyclic							4.0	6.0	6.0					5																	45695974		1817	3797	5614	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695974G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.222C>G	5.37:g.45695974G>C							p.G74G	NM_021072	NP_066550	O60741	HCN1_HUMAN			1	247	-			74			Cytoplasmic (Potential).|Gly-rich.			Silent	SNP	ENST00000303230.4	37	c.222C>G	CCDS3952.1																																																																																				0.766	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
MAP3K1	4214	broad.mit.edu	37	5	56177898	56177898	+	Silent	SNP	A	A	G			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:56177898A>G	ENST00000399503.3	+	14	2871	c.2871A>G	c.(2869-2871)caA>caG	p.Q957Q		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	957					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATGGTTCAAACAAAAGGCA	0.443																																						uc003jqw.3																			0				ovary(1)|skin(1)	2						c.(2869-2871)CAA>CAG		mitogen-activated protein kinase kinase kinase							97.0	95.0	95.0					5																	56177898		1910	4150	6060	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177898A>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2871A>G	5.37:g.56177898A>G							p.Q957Q	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3372	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	957						Silent	SNP	ENST00000399503.3	37	c.2871A>G	CCDS43318.1																																																																																				0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
ELOVL7	79993	broad.mit.edu	37	5	60053463	60053463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:60053463C>T	ENST00000508821.1	-	8	823	c.509G>A	c.(508-510)gGa>gAa	p.G170E	ELOVL7_ENST00000425382.1_Missense_Mutation_p.G170E|ELOVL7_ENST00000438340.1_Missense_Mutation_p.G170E|ELOVL7_ENST00000505959.1_Missense_Mutation_p.G157E	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	170					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGGAATGTTCCCAAACCACC	0.378																																						uc003jsi.3																			0					0						c.(508-510)GGA>GAA		elongation of very long chain fatty acids-like							68.0	67.0	67.0					5																	60053463		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053463C>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.509G>A	5.37:g.60053463C>T	ENSP00000424123:p.Gly170Glu					ELOVL7_uc011cqo.1_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.2_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.3_Missense_Mutation_p.G157E	p.G170E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			8	709	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	170					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.509G>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976149	0.92982	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.51702	-0.8672	10	0.62326	D	0.03	-6.2576	19.5665	0.95395	0.0:1.0:0.0:0.0	.	157;170	D6RHD0;A1L3X0	.;ELOV7_HUMAN	E	170;170;170;157	ENSP00000424123:G170E;ENSP00000411255:G170E;ENSP00000402634:G170E;ENSP00000421043:G157E	ENSP00000402634:G170E	G	-	2	0	ELOVL7	60089220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.338000	0.79269	2.699000	0.92147	0.655000	0.94253	GGA		0.378	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1		
KCNK16	83795	broad.mit.edu	37	6	39285601	39285601	+	Silent	SNP	G	G	A	rs79043904	byFrequency	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr6:39285601G>A	ENST00000373229.5	-	3	469	c.456C>T	c.(454-456)gcC>gcT	p.A152A	KCNK16_ENST00000507712.1_Silent_p.A87A|KCNK16_ENST00000425054.2_Silent_p.A152A|KCNK16_ENST00000373227.4_Silent_p.A152A|KCNK16_ENST00000437525.2_Silent_p.A152A	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	152					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TTTCAATGGCGGCCAGATGGG	0.592													G|||	11	0.00219649	0.0	0.0014	5008	,	,		20107	0.0099		0.0	False		,,,				2504	0.0					uc003ooq.2																			0				ovary(2)|skin(1)	3						c.(454-456)GCC>GCT		potassium channel, subfamily K, member 16		G	,,,	4,4402	4.2+/-10.8	0,4,2199	39.0	35.0	36.0		456,456,456,456	2.6	0.4	6	dbSNP_131	36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNK16	NM_001135105.1,NM_001135106.1,NM_001135107.1,NM_032115.3	,,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,,	152/323,152/295,152/263,152/310	39285601	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285601G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.456C>T	6.37:g.39285601G>A						KCNK16_uc003oor.3_Silent_p.A152A|KCNK16_uc010jwy.2_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	p.A152A	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			3	470	-			152			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	c.456C>T	CCDS4843.1																																																																																				0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
AVL9	23080	broad.mit.edu	37	7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:32598232T>C	ENST00000318709.4	+	9	892	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_ENST00000404479.1_Missense_Mutation_p.L224P|AVL9_ENST00000409301.1_Missense_Mutation_p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	224					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328																																						uc003tcv.1																			0					0						c.(670-672)CTT>CCT		AVL9 homolog (S. cerevisiase)							111.0	111.0	111.0					7																	32598232		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598232T>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.671T>C	7.37:g.32598232T>C	ENSP00000315568:p.Leu224Pro					AVL9_uc011kai.1_Missense_Mutation_p.L224P|AVL9_uc010kwj.1_Missense_Mutation_p.L65P	p.L224P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			9	817	+			224			Helical; (Potential).		Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.671T>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366848	0.82463	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.78314	0.983;0.991;0.946	D	0.88174	0.2866	10	0.87932	D	0	-27.2944	15.2208	0.73310	0.0:0.0:0.0:1.0	.	224;224;224	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	P	224;224;224;224;155	ENSP00000315568:L224P;ENSP00000387011:L224P;ENSP00000385242:L224P;ENSP00000395134:L155P	ENSP00000315568:L224P	L	+	2	0	AVL9	32564757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.632000	0.61311	2.006000	0.58801	0.477000	0.44152	CTT		0.328	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
ABCB4	5244	broad.mit.edu	37	7	87069034	87069034	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87069034C>T	ENST00000265723.4	-	14	1791	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	ABCB4_ENST00000359206.3_Silent_p.T560T|ABCB4_ENST00000545634.1_Silent_p.T560T|ABCB4_ENST00000358400.3_Silent_p.T560T|ABCB4_ENST00000453593.1_Silent_p.T560T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCAATGCTGACGTGGCCTCAT	0.537																																						uc003uiv.1																			0				ovary(4)|skin(1)|pancreas(1)	6						c.(1678-1680)ACG>ACA		ATP-binding cassette, subfamily B, member 4							149.0	132.0	138.0					7																	87069034		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069034C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1680G>A	7.37:g.87069034C>T						ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN			14	1756	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		560			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.1680G>A	CCDS5606.1																																																																																				0.537	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB1	5243	broad.mit.edu	37	7	87133728	87133728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87133728C>T	ENST00000265724.3	-	29	4091	c.3674G>A	c.(3673-3675)cGc>cAc	p.R1225H	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1161H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1225	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATGCAGGTGCGGCCTTCTCT	0.453																																						uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3673-3675)CGC>CAC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						95.0	92.0	93.0					7																	87133728		2203	4298	6501	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133728C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3674G>A	7.37:g.87133728C>T	ENSP00000265724:p.Arg1225His					ABCB1_uc011khc.1_Missense_Mutation_p.R1161H	p.R1225H	NM_000927	NP_000918	P08183	MDR1_HUMAN			29	4092	-	Esophageal squamous(14;0.00164)		1225			Cytoplasmic (Potential).|ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3674G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452115	0.96223	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85088	-1.94;-1.94	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63877	0.905;0.919	D	0.89747	0.3937	10	0.87932	D	0	-4.4239	19.0588	0.93078	0.0:1.0:0.0:0.0	.	1161;1225	B5AK60;P08183	.;MDR1_HUMAN	H	1006;1225;1161	ENSP00000265724:R1225H;ENSP00000444095:R1161H	ENSP00000265724:R1225H	R	-	2	0	ABCB1	86971664	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.780000	0.85658	2.744000	0.94065	0.655000	0.94253	CGC		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
LRRC6	23639	broad.mit.edu	37	8	133584685	133584685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:133584685A>T	ENST00000519595.1	-	12	1368	c.1270T>A	c.(1270-1272)Tca>Aca	p.S424T	LRRC6_ENST00000250173.1_Missense_Mutation_p.S424T|LRRC6_ENST00000518642.1_3'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	424					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCAGGGAATGAGTGCTTGCTA	0.373																																						uc003ytk.2																			0				ovary(1)|kidney(1)	2						c.(1270-1272)TCA>ACA		leucine rich repeat containing 6							264.0	242.0	250.0					8																	133584685		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133584685A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1270T>A	8.37:g.133584685A>T	ENSP00000429791:p.Ser424Thr					LRRC6_uc003ytl.2_RNA	p.S424T	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1344	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		424					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1270T>A		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655637	0.47467	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	T;T;T	0.50001	0.76;0.9;0.76	5.5	4.33	0.51752	.	0.206162	0.42548	D	0.000700	T	0.60894	0.2304	M	0.74258	2.255	0.43942	D	0.996608	D	0.63046	0.992	P	0.58210	0.835	T	0.62927	-0.6750	10	0.56958	D	0.05	-9.6097	9.9672	0.41732	0.8299:0.1701:0.0:0.0	.	424	Q86X45	LRRC6_HUMAN	T	424;164;424	ENSP00000429791:S424T;ENSP00000428015:S164T;ENSP00000250173:S424T	ENSP00000250173:S424T	S	-	1	0	LRRC6	133653867	1.000000	0.71417	0.822000	0.32727	0.530000	0.34684	3.824000	0.55723	1.012000	0.39366	0.533000	0.62120	TCA		0.373	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	
NDRG1	10397	broad.mit.edu	37	8	134258899	134258899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:134258899C>T	ENST00000414097.2	-	13	1682	c.815G>A	c.(814-816)tGc>tAc	p.C272Y	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.C206Y|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.C272Y|NDRG1_ENST00000518176.1_Missense_Mutation_p.C19Y|NDRG1_ENST00000354944.5_Missense_Mutation_p.C202Y|NDRG1_ENST00000537882.1_Missense_Mutation_p.C191Y	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	272					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTTTGAGTTGCACTCCACCTG	0.473			T	ERG	prostate																																	uc003yuh.2				Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					0				ovary(4)	4						c.(814-816)TGC>TAC		N-myc downstream regulated 1							149.0	138.0	142.0					8																	134258899		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134258899C>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.815G>A	8.37:g.134258899C>T	ENSP00000404854:p.Cys272Tyr					NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	p.C272Y	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		13	1401	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		272					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.815G>A	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720327	0.89205	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476	T;T;T;T;T;T	0.27890	1.64;2.23;1.64;2.23;2.23;2.23	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.87578	0.954;0.998	T	0.71276	-0.4641	10	0.87932	D	0	-35.4408	18.2739	0.90077	0.0:1.0:0.0:0.0	.	19;272	E7ESM1;Q92597	.;NDRG1_HUMAN	Y	272;202;272;191;19;100;206	ENSP00000319977:C272Y;ENSP00000347028:C202Y;ENSP00000404854:C272Y;ENSP00000437443:C191Y;ENSP00000429007:C19Y;ENSP00000427894:C206Y	ENSP00000319977:C272Y	C	-	2	0	NDRG1	134328081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.266000	0.78452	2.557000	0.86248	0.650000	0.86243	TGC		0.473	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1		
RASEF	158158	broad.mit.edu	37	9	85615141	85615141	+	Missense_Mutation	SNP	T	T	C	rs375201668		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr9:85615141T>C	ENST00000376447.3	-	12	1926	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	556					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGAGGAAACTAGACTTCCCC	0.458																																						uc004amo.1																			0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1666-1668)AGT>GGT		RAS and EF-hand domain containing		T	GLY/SER	0,4406		0,0,2203	102.0	100.0	101.0		1666	6.0	1.0	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASEF	NM_152573.2	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	556/741	85615141	1,13005	2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615141T>C	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1666A>G	9.37:g.85615141T>C	ENSP00000365630:p.Ser556Gly						p.S556G	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			12	1927	-			556					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1666A>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	29.4	4.999783	0.93227	0.0	1.16E-4	ENSG00000165105	ENST00000376447	D	0.83506	-1.73	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.043674	0.85682	D	0.000000	D	0.94251	0.8154	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95792	0.8825	10	0.66056	D	0.02	.	16.2619	0.82550	0.0:0.0:0.0:1.0	.	556	Q8IZ41	RASEF_HUMAN	G	556	ENSP00000365630:S556G	ENSP00000365630:S556G	S	-	1	0	RASEF	84804961	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.612000	0.82975	2.317000	0.78254	0.460000	0.39030	AGT		0.458	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	
CDKL5	6792	broad.mit.edu	37	X	18597977	18597977	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:18597977G>A	ENST00000379989.3	+	7	577	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDKL5_ENST00000379996.3_Missense_Mutation_p.E98K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATATGCTCGAATTGCTGGA	0.328																																						uc004cym.2																			0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(292-294)GAA>AAA		cyclin-dependent kinase-like 5							85.0	83.0	84.0					X																	18597977		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18597977G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.292G>A	X.37:g.18597977G>A	ENSP00000369325:p.Glu98Lys					CDKL5_uc004cyn.2_Missense_Mutation_p.E98K	p.E98K	NM_003159	NP_003150	O76039	CDKL5_HUMAN			6	545	+	Hepatocellular(33;0.183)		98			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.292G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619320	0.87460	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.43688	0.94;0.94	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	N	0.17800	0.525	0.49389	D	0.999782	D	0.89917	1.0	D	0.68483	0.958	T	0.46162	-0.9211	10	0.32370	T	0.25	-24.1386	19.3864	0.94557	0.0:0.0:1.0:0.0	.	98	O76039	CDKL5_HUMAN	K	98	ENSP00000369332:E98K;ENSP00000369325:E98K	ENSP00000369325:E98K	E	+	1	0	CDKL5	18507898	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.876000	0.87215	2.532000	0.85374	0.594000	0.82650	GAA		0.328	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
ZNF81	347344	broad.mit.edu	37	X	47775519	47775519	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:47775519C>A	ENST00000376954.1	+	6	1842	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF81_ENST00000338637.7_Missense_Mutation_p.H492N			P51508	ZNF81_HUMAN	zinc finger protein 81	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAAGAGAATTCATACAGGAGA	0.413																																						uc010nhy.1																			0					0						c.(1474-1476)CAT>AAT		zinc finger protein 81							43.0	43.0	43.0					X																	47775519		2201	4296	6497	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775519C>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1474C>A	X.37:g.47775519C>A	ENSP00000366153:p.His492Asn						p.H492N	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1842	+		all_lung(315;0.0973)	492			C2H2-type 6.		Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1474C>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301263	0.60195	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.67345	-0.26;-0.26	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000433	D	0.84538	0.5494	M	0.92880	3.355	0.33544	D	0.595198	D	0.89917	1.0	D	0.91635	0.999	D	0.90777	0.4676	10	0.87932	D	0	.	13.0399	0.58893	0.0:1.0:0.0:0.0	.	492	P51508	ZNF81_HUMAN	N	492	ENSP00000366153:H492N;ENSP00000341151:H492N	ENSP00000341151:H492N	H	+	1	0	ZNF81	47660463	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.248000	0.78268	2.237000	0.73441	0.544000	0.68410	CAT		0.413	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ATRX	546	broad.mit.edu	37	X	76909633	76909636	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:76909633_76909636delTTTC	ENST00000373344.5	-	14	4483_4486	c.4269_4272delGAAA	c.(4267-4272)aagaaafs	p.KK1423fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK1385fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1423					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACGTCGCCTTTTCTTTTTCTGTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4267-4272)AAGAAAfs		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909633_76909636delTTTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4269_4272delGAAA	X.37:g.76909633_76909636delTTTC	ENSP00000362441:p.Lys1423fs					ATRX_uc004ecq.3_Frame_Shift_Del_p.K1385fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K1208fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1355fs	p.K1423fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			14	4501_4504	-			1423_1424					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4269_4272delGAAA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
