#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
PEX14	5195	broad.mit.edu	37	1	10683104	10683104	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:10683104G>T	ENST00000356607.4	+	6	493	c.413G>T	c.(412-414)gGc>gTc	p.G138V	PEX14_ENST00000538836.1_Missense_Mutation_p.G74V	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	138					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGGGCGGCCGAGAGGAC	0.557																																						uc001arn.2																			0				breast(1)	1						c.(412-414)GGC>GTC		peroxisomal biogenesis factor 14							58.0	57.0	57.0					1																	10683104		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10683104G>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.413G>T	1.37:g.10683104G>T	ENSP00000349016:p.Gly138Val					PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.2_Missense_Mutation_p.G74V|PEX14_uc010oam.1_Missense_Mutation_p.G74V|PEX14_uc010oan.1_Missense_Mutation_p.G95V|PEX14_uc009vmw.2_Missense_Mutation_p.G74V	p.G138V	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	6	434	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	138					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.413G>T	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817066	0.70912	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.34275	1.37;1.37	5.27	5.27	0.74061	.	0.044135	0.85682	D	0.000000	T	0.57213	0.2038	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.974	D;D;P	0.97110	0.94;1.0;0.521	T	0.50311	-0.8843	10	0.27785	T	0.31	.	18.8981	0.92432	0.0:0.0:1.0:0.0	.	95;74;138	O75381-2;B7Z4Z4;O75381	.;.;PEX14_HUMAN	V	138;74	ENSP00000349016:G138V;ENSP00000444877:G74V	ENSP00000349016:G138V	G	+	2	0	PEX14	10605691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.411000	0.97342	2.446000	0.82766	0.655000	0.94253	GGC		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		
CLCNKB	1188	broad.mit.edu	37	1	16378220	16378220	+	Missense_Mutation	SNP	G	G	A	rs201540273		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:16378220G>A	ENST00000375679.4	+	14	1424	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269H	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	438			R -> C (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R438H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCTATCGGGCGCCTCTTTGGG	0.622																																						uc001axw.3																			1	Substitution - Missense(1)		prostate(1)	skin(1)	1	GRCh37	CM004244	CLCNKB	M		c.(1312-1314)CGC>CAC		chloride channel Kb isoform 1		G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	90.0	91.0	91.0		1313,806	4.1	1.0	1		91	0,8600		0,0,4300	yes	missense,missense	CLCNKB	NM_000085.3,NM_001165945.1	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	438/688,269/519	16378220	2,13004	2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16378220G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1313G>A	1.37:g.16378220G>A	ENSP00000364831:p.Arg438His					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R438H|CLCNKB_uc001axy.3_Missense_Mutation_p.R269H	p.R438H	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1393	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	438		R -> C (in BS3).			B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1313G>A	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.035387	0.75617	4.54E-4	0.0	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.95103	-3.61;-3.61	4.05	4.05	0.47172	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97855	1.0277	10	0.87932	D	0	.	14.0643	0.64819	0.0:0.0:1.0:0.0	.	269;438	Q5T5Q7;P51801	.;CLCKB_HUMAN	H	438;310;269	ENSP00000364831:R438H;ENSP00000364819:R269H	ENSP00000332055:R310H	R	+	2	0	CLCNKB	16250807	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.405000	0.73272	1.964000	0.57103	0.455000	0.32223	CGC		0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	
SRRM1	10250	broad.mit.edu	37	1	24996658	24996658	+	Missense_Mutation	SNP	G	G	A	rs201082864		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:24996658G>A	ENST00000323848.9	+	15	2567	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R760Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.R763Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	751	Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCATCCTCCCGATCTGTCTCC	0.532																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2251-2253)CGA>CAA		serine/arginine repetitive matrix 1							153.0	153.0	153.0					1																	24996658		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24996658G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2252G>A	1.37:g.24996658G>A	ENSP00000326261:p.Arg751Gln					SRRM1_uc010oel.1_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	p.R751Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	15	2476	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	751			Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2252G>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284457	0.80803	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56941	0.64;0.43;0.46	5.94	5.94	0.96194	.	0.000000	0.50627	D	0.000114	T	0.39332	0.1074	N	0.19112	0.55	0.80722	D	1	P;P	0.52170	0.951;0.918	B;B	0.35859	0.212;0.105	T	0.47355	-0.9124	10	0.72032	D	0.01	-1.3715	20.3736	0.98901	0.0:0.0:1.0:0.0	.	763;751	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	751;763;760	ENSP00000326261:R751Q;ENSP00000391430:R763Q;ENSP00000363510:R760Q	ENSP00000326261:R751Q	R	+	2	0	SRRM1	24869245	0.999000	0.42202	0.983000	0.44433	0.993000	0.82548	6.862000	0.75484	2.820000	0.97059	0.650000	0.86243	CGA		0.532	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
TAL1	6886	broad.mit.edu	37	1	47685764	47685764	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:47685764G>A	ENST00000294339.3	-	4	1200	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TAL1_ENST00000371884.2_Silent_p.A208A|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.A210A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	208	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCGGAGCTCGGCAAAGGCCC	0.572			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(622-624)GCC>GCT		T-cell acute lymphocytic leukemia 1							55.0	53.0	54.0					1																	47685764		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685764G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.624C>T	1.37:g.47685764G>A						TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	p.A208A	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1201	-			208			Helix-loop-helix motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.624C>T	CCDS547.1																																																																																				0.572	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189	
L1TD1	54596	broad.mit.edu	37	1	62675593	62675593	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:62675593G>A	ENST00000498273.1	+	4	1442	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	383	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAGTTTTCCGAGCTAGAGGA	0.488																																						uc001dae.3																			0				ovary(1)|skin(1)	2						c.(1147-1149)GAG>AAG		LINE-1 type transposase domain containing 1							72.0	82.0	78.0					1																	62675593		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675593G>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1147G>A	1.37:g.62675593G>A	ENSP00000419901:p.Glu383Lys						p.E383K	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			4	1449	+			383			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1147G>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024967	0.35701	.	.	ENSG00000240563	ENST00000498273	T	0.09350	2.99	3.42	1.48	0.22813	.	.	.	.	.	T	0.06280	0.0162	N	0.24115	0.695	0.09310	N	1	D	0.53745	0.962	B	0.38458	0.274	T	0.32428	-0.9907	9	0.62326	D	0.03	.	6.0483	0.19772	0.2369:0.0:0.7631:0.0	.	383	Q5T7N2	LITD1_HUMAN	K	383	ENSP00000419901:E383K	ENSP00000419901:E383K	E	+	1	0	L1TD1	62448181	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.206000	0.09398	0.443000	0.26582	0.462000	0.41574	GAG		0.488	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
PPFIA4	8497	broad.mit.edu	37	1	203029484	203029484	+	Missense_Mutation	SNP	G	G	A	rs373538808		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:203029484G>A	ENST00000447715.2	+	27	3098	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	PPFIA4_ENST00000599966.1_Missense_Mutation_p.R402H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R402H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R402H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R615H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R887H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	886	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAAGCTCCGCCTGGCCATT	0.612																																						uc001gyz.2																			0				ovary(4)|skin(1)	5						c.(1204-1206)CGC>CAC		protein tyrosine phosphatase, receptor type, f		G	HIS/ARG	0,4406		0,0,2203	75.0	84.0	81.0		1205	5.3	1.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPFIA4	NM_015053.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	402/702	203029484	1,13005	2203	4300	6503	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203029484G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2657G>A	1.37:g.203029484G>A	ENSP00000402576:p.Arg886His					PPFIA4_uc009xaj.2_Missense_Mutation_p.R1033H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R615H|PPFIA4_uc001gza.2_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H	p.R402H	NM_015053	NP_055868	O75335	LIPA4_HUMAN			9	1798	+			402			SAM 1.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1205G>A		.	.	.	.	.	.	.	.	.	.	g	36	5.758291	0.96898	0.0	1.16E-4	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.29	5.29	0.74685	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.42682	D	0.000668	T	0.71160	0.3307	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.995;1.0;1.0	T	0.74237	-0.3730	10	0.87932	D	0	-31.9562	18.7481	0.91802	0.0:0.0:1.0:0.0	.	615;886;97;402;402	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	H	887;886;402;615;402	ENSP00000356209:R887H;ENSP00000402576:R886H;ENSP00000295706:R402H;ENSP00000400379:R615H;ENSP00000272198:R402H	ENSP00000272198:R402H	R	+	2	0	PPFIA4	201296107	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.541000	0.98083	2.751000	0.94390	0.645000	0.84053	CGC		0.612	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
THNSL1	79896	broad.mit.edu	37	10	25313035	25313035	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr10:25313035C>A	ENST00000524413.1	+	3	1230	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	THNSL1_ENST00000376356.4_Missense_Mutation_p.L295M			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	295						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCACAGATACTGTTGGAAAG	0.458																																						uc001isi.3																			0				pancreas(1)	1						c.(883-885)CTG>ATG		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						88.0	88.0	88.0					10																	25313035		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313035C>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.883C>A	10.37:g.25313035C>A	ENSP00000434887:p.Leu295Met					ENKUR_uc001ish.1_Intron	p.L295M	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	1212	+			295					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.883C>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740868	0.30865	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.31510	1.49;1.49	5.71	1.15	0.20763	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.152059	0.42682	D	0.000665	T	0.33177	0.0854	M	0.63843	1.955	0.27636	N	0.947873	P	0.51653	0.947	P	0.47528	0.549	T	0.21690	-1.0238	10	0.87932	D	0	-19.4524	7.9464	0.29989	0.5152:0.2831:0.2016:0.0	.	295	Q8IYQ7	THNS1_HUMAN	M	295	ENSP00000434887:L295M;ENSP00000365534:L295M	ENSP00000365534:L295M	L	+	1	2	THNSL1	25353041	0.128000	0.22383	0.159000	0.22649	0.746000	0.42486	0.505000	0.22642	0.302000	0.22762	-0.188000	0.12872	CTG		0.458	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
OR52R1	119695	broad.mit.edu	37	11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:4825094G>T	ENST00000356069.2	-	1	516	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.Q252K	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552																																						uc010qym.1																			0				skin(1)	1						c.(754-756)CAA>AAA		olfactory receptor, family 52, subfamily R,							143.0	113.0	123.0					11																	4825094		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825094G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.517C>A	11.37:g.4825094G>T	ENSP00000348368:p.Gln173Lys						p.Q252K	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	754	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	173			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.754C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185097	0.00305	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.35973	1.28;1.28	5.57	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	1.065120	0.07380	N	0.887325	T	0.14442	0.0349	N	0.04959	-0.14	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28713	-1.0035	10	0.08599	T	0.76	.	3.8514	0.08957	0.1376:0.3619:0.3765:0.1241	.	173	Q8NGF1	O52R1_HUMAN	K	173;252	ENSP00000348368:Q173K;ENSP00000369742:Q252K	ENSP00000348368:Q173K	Q	-	1	0	OR52R1	4781670	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.391000	0.07323	-0.054000	0.13266	-0.172000	0.13284	CAA		0.552	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
APBB1	322	broad.mit.edu	37	11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:6424912G>A	ENST00000609360.1	-	3	961	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_ENST00000608704.1_Missense_Mutation_p.P29S|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000389906.2_Missense_Mutation_p.P288S|APBB1_ENST00000609331.1_Missense_Mutation_p.P53S|APBB1_ENST00000608645.1_Missense_Mutation_p.P29S|APBB1_ENST00000299402.6_Missense_Mutation_p.P288S|APBB1_ENST00000530885.1_Missense_Mutation_p.P68S|APBB1_ENST00000608394.1_Missense_Mutation_p.P29S|APBB1_ENST00000311051.3_Missense_Mutation_p.P288S|APBB1_ENST00000608655.1_Missense_Mutation_p.P68S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	288					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0				breast(2)	2						c.(862-864)CCC>TCC		amyloid beta A4 precursor protein-binding,							39.0	46.0	43.0					11																	6424912		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6424912G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.862C>T	11.37:g.6424912G>A	ENSP00000477213:p.Pro288Ser					APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc010raf.1_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	p.P288S	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	962	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	288					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.862C>T		.	.	.	.	.	.	.	.	.	.	G	9.629	1.136025	0.21123	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.17213	2.56;2.56;2.57;2.31;2.29	4.52	4.52	0.55395	.	0.465805	0.21797	N	0.068962	T	0.09818	0.0241	N	0.14661	0.345	0.21064	N	0.999798	B;B;B;B	0.30326	0.276;0.248;0.16;0.113	B;B;B;B	0.32090	0.066;0.14;0.066;0.113	T	0.26087	-1.0113	10	0.09338	T	0.73	-7.6356	12.5927	0.56451	0.0:0.0:1.0:0.0	.	137;53;68;288	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	S	288;288;288;137;29;53;68;29	ENSP00000299402:P288S;ENSP00000311912:P288S;ENSP00000374556:P288S;ENSP00000433338:P68S;ENSP00000437114:P29S	ENSP00000299402:P288S	P	-	1	0	APBB1	6381488	0.967000	0.33354	0.980000	0.43619	0.846000	0.48090	1.987000	0.40687	2.332000	0.79248	0.305000	0.20034	CCC		0.652	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
OR5M1	390168	broad.mit.edu	37	11	56380529	56380529	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:56380529C>T	ENST00000526538.1	-	1	449	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAACCCATACATGTAAGGGA	0.458																																						uc001nja.1																			0				central_nervous_system(1)	1						c.(448-450)ATG>ATA		olfactory receptor, family 5, subfamily M,							114.0	101.0	105.0					11																	56380529		1946	4155	6101	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380529C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.450G>A	11.37:g.56380529C>T	ENSP00000435416:p.Met150Ile						p.M150I	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	450	-			150			Helical; Name=4; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.450G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.661459	0.00107	.	.	ENSG00000255012	ENST00000526538	T	0.32753	1.44	3.71	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	2.374970	0.01978	N	0.044578	T	0.12347	0.0300	N	0.03084	-0.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.05525	T	0.97	-1.0438	7.5286	0.27671	0.2483:0.6137:0.138:0.0	.	150	Q8NGP8	OR5M1_HUMAN	I	150	ENSP00000435416:M150I	ENSP00000435416:M150I	M	-	3	0	OR5M1	56137105	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-5.246000	0.00138	-0.148000	0.11234	0.280000	0.19369	ATG		0.458	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
NUMA1	4926	broad.mit.edu	37	11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:71717105C>T	ENST00000393695.3	-	22	5999	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R|NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5668-5670)GGG>AGG		nuclear mitotic apparatus protein 1							56.0	67.0	63.0					11																	71717105		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717105C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5668G>A	11.37:g.71717105C>T	ENSP00000377298:p.Gly1890Arg					NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	p.G1890R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			22	5840	-			1890						Missense_Mutation	SNP	ENST00000393695.3	37	c.5668G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.536	0.467063	0.12402	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.16743	2.32;2.8;2.8	5.11	-0.59	0.11679	.	0.373945	0.24282	N	0.039900	T	0.05823	0.0152	N	0.04508	-0.205	0.19775	N	0.999952	B;B;B;B	0.32425	0.035;0.002;0.035;0.371	B;B;B;B	0.26770	0.006;0.004;0.006;0.073	T	0.39820	-0.9595	10	0.25106	T	0.35	.	9.2436	0.37511	0.0:0.4204:0.0:0.5796	.	1896;1876;1890;754	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	R	754;1876;1890;1439;863	ENSP00000260051:G754R;ENSP00000351851:G1876R;ENSP00000377298:G1890R	ENSP00000260051:G754R	G	-	1	0	NUMA1	71394753	0.538000	0.26394	0.194000	0.23346	0.844000	0.47949	0.772000	0.26647	0.005000	0.14708	0.655000	0.94253	GGG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	rs371697073		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:130281492C>T	ENST00000257359.6	-	6	2276	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	524	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19254	0.001		0.0	False		,,,				2504	0.0					uc001qgg.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1570-1572)GTG>ATG		ADAM metallopeptidase with thrombospondin type 1		C	MET/VAL	1,4041		0,1,2020	46.0	49.0	48.0		1570	1.7	0.9	11		48	0,8364		0,0,4182	no	missense	ADAMTS8	NM_007037.4	21	0,1,6202	TT,TC,CC		0.0,0.0247,0.0081	benign	524/890	130281492	1,12405	2021	4182	6203	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281492C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1570G>A	11.37:g.130281492C>T	ENSP00000257359:p.Val524Met					ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	p.V524M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	524			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1570G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454419	0.26161	2.47E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.61158	0.13	5.87	1.73	0.24493	.	0.400931	0.26349	N	0.024882	T	0.27489	0.0675	N	0.03608	-0.345	0.22213	N	0.999287	B;B	0.25955	0.138;0.005	B;B	0.20184	0.028;0.003	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.285	0.10850	0.1098:0.469:0.2867:0.1345	.	524;5	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	524;553	ENSP00000257359:V524M	ENSP00000257359:V524M	V	-	1	0	ADAMTS8	129786702	0.000000	0.05858	0.932000	0.37286	0.531000	0.34715	-0.362000	0.07602	0.395000	0.25257	-0.238000	0.12139	GTG		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
KMT2D	8085	broad.mit.edu	37	12	49420539	49420539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:49420539A>T	ENST00000301067.7	-	48	15209	c.15210T>A	c.(15208-15210)taT>taA	p.Y5070*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5070					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTGGGTCTCATACACCTCCG	0.632																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15208-15210)TAT>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							49.0	54.0	52.0					12																	49420539		2069	4196	6265	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420539A>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15210T>A	12.37:g.49420539A>T	ENSP00000301067:p.Tyr5070*	HNSCC(34;0.089)					p.Y5070*	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15210	-			5070					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.15210T>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	55	24.043634	0.99958	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.62	2.22	0.28083	.	0.000000	0.34853	N	0.003632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7578	0.23524	0.708:0.0:0.292:0.0	.	.	.	.	X	5070	.	ENSP00000301067:Y5070X	Y	-	3	2	MLL2	47706806	0.690000	0.27699	1.000000	0.80357	0.996000	0.88848	-0.062000	0.11674	0.729000	0.32403	0.533000	0.62120	TAT		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
HOXC13	3229	broad.mit.edu	37	12	54332758	54332758	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:54332758C>T	ENST00000243056.3	+	1	224	c.68C>T	c.(67-69)gCg>gTg	p.A23V	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	23					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GAGGACAGCgcggcggagagc	0.672			T	NUP98	AML																																	uc001sei.2				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)	1						c.(67-69)GCG>GTG		homeobox C13							5.0	5.0	5.0					12																	54332758		2075	4078	6153	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54332758C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.68C>T	12.37:g.54332758C>T	ENSP00000243056:p.Ala23Val					HOXC13_uc010sop.1_RNA	p.A23V	NM_017410	NP_059106	P31276	HXC13_HUMAN			1	183	+			23					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.68C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	8.294	0.818311	0.16607	.	.	ENSG00000123364	ENST00000243056	D	0.92965	-3.14	3.28	3.28	0.37604	.	0.081384	0.49916	D	0.000124	T	0.79656	0.4483	N	0.14661	0.345	0.42004	D	0.9909	P	0.34800	0.469	B	0.24394	0.053	T	0.79967	-0.1580	10	0.02654	T	1	.	14.4791	0.67567	0.0:1.0:0.0:0.0	.	23	P31276	HXC13_HUMAN	V	23	ENSP00000243056:A23V	ENSP00000243056:A23V	A	+	2	0	HOXC13	52619025	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.506000	0.45433	2.154000	0.67381	0.462000	0.41574	GCG		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
MMP19	4327	broad.mit.edu	37	12	56231702	56231702	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:56231702G>C	ENST00000322569.4	-	7	1076	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	MMP19_ENST00000409200.3_Missense_Mutation_p.P282R|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.L43V|MMP19_ENST00000548629.1_Missense_Mutation_p.L306V	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	329					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CCCTCCCAAAGGGCAGACACT	0.542																																						uc001sib.2																			0				ovary(1)	1						c.(985-987)CTT>GTT		matrix metalloproteinase 19 isoform rasi-1							80.0	81.0	80.0					12																	56231702		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231702G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.985C>G	12.37:g.56231702G>C	ENSP00000313437:p.Leu329Val					MMP19_uc001sia.2_Missense_Mutation_p.L43V|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.P282R	p.L329V	NM_002429	NP_002420	Q99542	MMP19_HUMAN			7	1106	-			329			Hemopexin-like 1.		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.985C>G	CCDS8895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.455887|2.455887	0.43634|0.43634	.|.	.|.	ENSG00000123342|ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629|ENST00000409200	T;T;T|T	0.08193|0.38887	3.12;3.12;3.12|1.11	5.94|5.94	4.87|4.87	0.63330|0.63330	Hemopexin/matrixin (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.23649|0.23649	0.0572|0.0572	L|L	0.31752|0.31752	0.955|0.955	0.50171|0.50171	D|D	0.999857|0.999857	P;P|P	0.50819|0.42409	0.939;0.669|0.779	P;B|B	0.52189|0.33690	0.692;0.348|0.168	T|T	0.13229|0.13229	-1.0517|-1.0517	10|9	0.49607|0.02654	T|T	0.09|1	.|.	13.2722|13.2722	0.60167|0.60167	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	329;43|282	Q99542;Q99542-3|B4E030	MMP19_HUMAN;.|.	V|R	43;329;306|282	ENSP00000377736:L43V;ENSP00000313437:L329V;ENSP00000446979:L306V|ENSP00000386625:P282R	ENSP00000313437:L329V|ENSP00000386625:P282R	L|P	-|-	1|2	0|0	MMP19|MMP19	54517969|54517969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	5.978000|5.978000	0.70501|0.70501	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CTT|CCT		0.542	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
PTPRB	5787	broad.mit.edu	37	12	70983775	70983775	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:70983775C>T	ENST00000261266.5	-	6	1394	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000334414.6_Silent_p.L673L|PTPRB_ENST00000551525.1_Silent_p.L672L|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Silent_p.L673L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.L455L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	455	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGAATTCTTCAAATTTCCAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swb.3																			0				lung(2)|skin(1)	3						c.(1363-1365)TTG>TTA		protein tyrosine phosphatase, receptor type, B							155.0	158.0	157.0					12																	70983775		1967	4153	6120	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983775C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1365G>A	12.37:g.70983775C>T			OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.1_Silent_p.L455L|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.L673L|PTPRB_uc001swa.3_Silent_p.L673L|PTPRB_uc001swd.3_Silent_p.L672L|PTPRB_uc009zrr.1_Silent_p.L552L	p.L455L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		6	1395	-	Renal(347;0.236)		455			Fibronectin type-III 5.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1365G>A	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
MYF6	4618	broad.mit.edu	37	12	81101567	81101567	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:81101567G>A	ENST00000228641.3	+	1	291	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	23					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTACTCTGCAGCCATTAGAAG	0.517																																						uc001szf.1																			0				central_nervous_system(1)	1						c.(67-69)CAG>CAA		myogenic factor 6							94.0	98.0	97.0					12																	81101567		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101567G>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.69G>A	12.37:g.81101567G>A							p.Q23Q	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	122	+			23					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.69G>A	CCDS9019.1																																																																																				0.517	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469	
AACS	65985	broad.mit.edu	37	12	125591804	125591804	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:125591804A>C	ENST00000316519.6	+	8	1111	c.905A>C	c.(904-906)cAt>cCt	p.H302P	AACS_ENST00000261686.6_Missense_Mutation_p.H302P|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	302					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCATGGTGCATTCCGCTGGG	0.607																																						uc001uhc.2																			0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(904-906)CAT>CCT		acetoacetyl-CoA synthetase							67.0	61.0	63.0					12																	125591804		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125591804A>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.905A>C	12.37:g.125591804A>C	ENSP00000324842:p.His302Pro					AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.H302P|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	p.H302P	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	8	1111	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.905A>C	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858498	0.71834	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84146	0.0420	10	0.87932	D	0	.	15.1741	0.72899	1.0:0.0:0.0:0.0	.	302;302	Q86V21-2;Q86V21	.;AACS_HUMAN	P	302;302;158;83;121	ENSP00000324842:H302P;ENSP00000261686:H302P;ENSP00000442956:H83P;ENSP00000392967:H121P	ENSP00000261686:H302P	H	+	2	0	AACS	124157757	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	8.420000	0.90256	2.056000	0.61249	0.459000	0.35465	CAT		0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
CYSLTR2	57105	broad.mit.edu	37	13	49281611	49281611	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:49281611T>A	ENST00000282018.3	+	1	661	c.658T>A	c.(658-660)Tgt>Agt	p.C220S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	220					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACTCAGCATCTGTTATCTGCT	0.478																																						uc010acx.1																			0				lung(2)	2						c.(658-660)TGT>AGT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						103.0	104.0	103.0					13																	49281611		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281611T>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.658T>A	13.37:g.49281611T>A	ENSP00000282018:p.Cys220Ser					CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acw.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S	p.C220S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1341	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	220			Helical; Name=5; (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.658T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613076	0.87258	.	.	ENSG00000152207	ENST00000282018	T	0.69685	-0.42	5.89	5.89	0.94794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77525	0.4143	M	0.76002	2.32	0.58432	D	0.999998	D	0.63046	0.992	P	0.55871	0.786	T	0.78558	-0.2158	10	0.45353	T	0.12	.	15.497	0.75662	0.0:0.0:0.0:1.0	.	220	Q9NS75	CLTR2_HUMAN	S	220	ENSP00000282018:C220S	ENSP00000282018:C220S	C	+	1	0	CYSLTR2	48179612	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	8.004000	0.88535	2.254000	0.74563	0.533000	0.62120	TGT		0.478	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		
TEX29	121793	broad.mit.edu	37	13	111995233	111995233	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:111995233C>A	ENST00000283547.1	+	5	499	c.370C>A	c.(370-372)Cca>Aca	p.P124T		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	124						integral component of membrane (GO:0016021)											TCCTGGGCCTCCAAGTGCTGG	0.577																																						uc001vsa.2																			0					0						c.(370-372)CCA>ACA		hypothetical protein LOC121793							83.0	77.0	79.0					13																	111995233		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111995233C>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.370C>A	13.37:g.111995233C>A	ENSP00000283547:p.Pro124Thr						p.P124T	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		5	499	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		124			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000283547.1	37	c.370C>A	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	C	4.940	0.174574	0.09391	.	.	ENSG00000153495	ENST00000283547	.	.	.	1.34	-2.69	0.06022	.	1.251110	0.06138	N	0.671887	T	0.24774	0.0601	N	0.24115	0.695	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.11665	-1.0578	9	0.27785	T	0.31	.	4.6342	0.12516	0.0:0.5143:0.2076:0.278	.	124	Q8N6K0	CM016_HUMAN	T	124	.	ENSP00000283547:P124T	P	+	1	0	C13orf16	110793234	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.952000	0.01528	-1.774000	0.01288	-1.474000	0.01003	CCA		0.577	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324	
ADPRHL1	113622	broad.mit.edu	37	13	114079397	114079397	+	Silent	SNP	G	G	A	rs370042842	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:114079397G>A	ENST00000375418.3	-	5	830	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADPRHL1_ENST00000356501.4_Silent_p.P166P	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	248					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATAATTGTCGGGGAAGATGG	0.438													g|||	2	0.000399361	0.0	0.0014	5008	,	,		10598	0.001		0.0	False		,,,				2504	0.0					uc001vtq.1																			0					0						c.(742-744)CCC>CCT		ADP-ribosylhydrolase like 1 isoform 1			,	0,4406		0,0,2203	245.0	225.0	232.0		744,498	-10.4	0.1	13		232	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	ADPRHL1	NM_138430.3,NM_199162.1	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	248/355,166/273	114079397	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114079397G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.744C>T	13.37:g.114079397G>A						ADPRHL1_uc001vtp.1_Silent_p.P166P	p.P248P	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		5	831	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	248					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.744C>T	CCDS9535.1																																																																																				0.438	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430	
AARS	16	broad.mit.edu	37	16	70310471	70310471	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:70310471G>T	ENST00000261772.8	-	4	540	c.397C>A	c.(397-399)Ctt>Att	p.L133I	RN7SL279P_ENST00000582185.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GTAACATAAAGTCTTTCAATG	0.428																																						uc002eyn.1																			0				pancreas(1)	1						c.(397-399)CTT>ATT		alanyl-tRNA synthetase	L-Alanine(DB00160)						101.0	99.0	99.0					16																	70310471		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70310471G>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.397C>A	16.37:g.70310471G>T	ENSP00000261772:p.Leu133Ile						p.L133I	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	4	507	-		Ovarian(137;0.0365)	133						Missense_Mutation	SNP	ENST00000261772.8	37	c.397C>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924089	0.92319	.	.	ENSG00000090861	ENST00000261772	T	0.74947	-0.89	6.07	6.07	0.98685	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.84958	0.0875	10	0.54805	T	0.06	-18.0217	11.4039	0.49885	0.0811:0.0:0.9189:0.0	.	133	P49588	SYAC_HUMAN	I	133	ENSP00000261772:L133I	ENSP00000261772:L133I	L	-	1	0	AARS	68867972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.814000	0.75236	2.884000	0.98904	0.655000	0.94253	CTT		0.428	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605	
MLYCD	23417	broad.mit.edu	37	16	83933176	83933176	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:83933176C>G	ENST00000262430.4	+	1	446	c.427C>G	c.(427-429)Cac>Gac	p.H143D		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	143	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTCTTCCACCACATCAGCAA	0.731																																						uc002fgz.2																			0					0						c.(427-429)CAC>GAC		malonyl-CoA decarboxylase precursor							6.0	8.0	7.0					16																	83933176		1640	3571	5211	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83933176C>G	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.427C>G	16.37:g.83933176C>G	ENSP00000262430:p.His143Asp						p.H143D	NM_012213	NP_036345	O95822	DCMC_HUMAN			1	447	+			143					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.427C>G	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197754	0.58126	.	.	ENSG00000103150	ENST00000262430	D	0.89617	-2.54	4.76	2.69	0.31865	.	0.050972	0.85682	D	0.000000	D	0.85852	0.5793	M	0.79805	2.47	0.58432	D	0.999997	P	0.36027	0.533	B	0.33846	0.171	T	0.80696	-0.1267	10	0.45353	T	0.12	-22.7272	4.8618	0.13588	0.1525:0.618:0.1477:0.0818	.	143	O95822	DCMC_HUMAN	D	143	ENSP00000262430:H143D	ENSP00000262430:H143D	H	+	1	0	MLYCD	82490677	0.693000	0.27728	0.998000	0.56505	0.979000	0.70002	1.169000	0.31871	0.486000	0.27676	0.462000	0.41574	CAC		0.731	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213	
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	p.R196*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	780	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CACNA1G	8913	broad.mit.edu	37	17	48703853	48703854	+	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:48703853_48703854insC	ENST00000359106.5	+	38	6875_6876	c.6875_6876insC	c.(6874-6879)ggccagfs	p.Q2293fs	CACNA1G_ENST00000429973.2_Frame_Shift_Ins_p.Q2182fs|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000352832.5_Frame_Shift_Ins_p.Q2166fs|CACNA1G_ENST00000442258.2_Frame_Shift_Ins_p.Q2159fs|CACNA1G_ENST00000502264.1_Frame_Shift_Ins_p.Q2222fs|CACNA1G_ENST00000507510.2_Frame_Shift_Ins_p.Q2248fs|CACNA1G_ENST00000503485.1_Frame_Shift_Ins_p.Q2166fs|CACNA1G_ENST00000510115.1_Frame_Shift_Ins_p.Q2214fs|CACNA1G_ENST00000515765.1_Frame_Shift_Ins_p.Q2237fs|CACNA1G_ENST00000515165.1_Frame_Shift_Ins_p.Q2200fs|CACNA1G_ENST00000360761.4_Frame_Shift_Ins_p.Q2177fs|CACNA1G_ENST00000515411.1_Frame_Shift_Ins_p.Q2230fs|CACNA1G_ENST00000514717.1_Frame_Shift_Ins_p.Q2143fs|CACNA1G_ENST00000507896.1_Frame_Shift_Ins_p.Q2110fs|CACNA1G_ENST00000358244.5_Frame_Shift_Ins_p.Q2087fs|CACNA1G_ENST00000514079.1_Frame_Shift_Ins_p.Q2207fs|CACNA1G_ENST00000513964.1_Frame_Shift_Ins_p.Q2155fs|CACNA1G_ENST00000507609.1_Frame_Shift_Ins_p.Q2193fs|CACNA1G_ENST00000513689.2_Frame_Shift_Ins_p.Q2203fs|CACNA1G_ENST00000505165.1_Frame_Shift_Ins_p.Q2121fs|CACNA1G_ENST00000507336.1_Frame_Shift_Ins_p.Q2282fs|CACNA1G_ENST00000514181.1_Frame_Shift_Ins_p.Q2175fs|CACNA1G_ENST00000354983.4_Frame_Shift_Ins_p.Q2259fs|CACNA1G_ENST00000512389.1_Frame_Shift_Ins_p.Q2189fs|CACNA1G_ENST00000510366.1_Frame_Shift_Ins_p.Q2148fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2293					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AACCTTGGGGGCCAGCCTCTTG	0.653											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002irk.1																			0				breast(1)	1						c.(6874-6876)GGCfs		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703853_48703854insC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6877dupC	17.37:g.48703855_48703855dupC	ENSP00000352011:p.Gln2293fs		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_uc002irj.1_Frame_Shift_Ins_p.G2086fs|CACNA1G_uc002irl.1_Frame_Shift_Ins_p.G2176fs|CACNA1G_uc002irm.1_Frame_Shift_Ins_p.G2213fs|CACNA1G_uc002irn.1_Frame_Shift_Ins_p.G2158fs|CACNA1G_uc002iro.1_Frame_Shift_Ins_p.G2165fs|CACNA1G_uc002irp.1_Frame_Shift_Ins_p.G2247fs|CACNA1G_uc002irq.1_Frame_Shift_Ins_p.G2269fs|CACNA1G_uc002irr.1_Frame_Shift_Ins_p.G2199fs|CACNA1G_uc002irs.1_Frame_Shift_Ins_p.G2236fs|CACNA1G_uc002irt.1_Frame_Shift_Ins_p.G2181fs|CACNA1G_uc002irv.1_Frame_Shift_Ins_p.G2188fs|CACNA1G_uc002irw.1_Frame_Shift_Ins_p.G2221fs|CACNA1G_uc002iru.1_Frame_Shift_Ins_p.G2258fs|CACNA1G_uc002irx.1_Frame_Shift_Ins_p.G2033fs|CACNA1G_uc002iry.1_Frame_Shift_Ins_p.G2022fs|CACNA1G_uc002irz.1_Frame_Shift_Ins_p.G2105fs|CACNA1G_uc002isa.1_Frame_Shift_Ins_p.G2078fs|CACNA1G_uc002isb.1_Frame_Shift_Ins_p.G2119fs|CACNA1G_uc002isc.1_Frame_Shift_Ins_p.G2194fs|CACNA1G_uc002isd.1_Frame_Shift_Ins_p.G2087fs|CACNA1G_uc002ise.1_Frame_Shift_Ins_p.G2115fs|CACNA1G_uc002isf.1_Frame_Shift_Ins_p.G2142fs|CACNA1G_uc002isg.1_Frame_Shift_Ins_p.G2060fs|CACNA1G_uc002ish.1_Frame_Shift_Ins_p.G2067fs|CACNA1G_uc002isi.1_Frame_Shift_Ins_p.G2055fs	p.G2292fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		38	7247_7248	+	Breast(11;6.7e-17)		2292			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Ins	INS	ENST00000359106.5	37	c.6875_6876insC	CCDS45730.1																																																																																				0.653	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
PPM1D	8493	broad.mit.edu	37	17	58711271	58711271	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:58711271C>T	ENST00000305921.3	+	3	991	c.759C>T	c.(757-759)caC>caT	p.H253H		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	253	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACTCACTCACAATGGACCTG	0.363																																						uc002iyt.1																			0				upper_aerodigestive_tract(1)	1						c.(757-759)CAC>CAT		protein phosphatase 1D							119.0	102.0	108.0					17																	58711271		2203	4300	6503	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58711271C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.759C>T	17.37:g.58711271C>T						PPM1D_uc010ddm.1_RNA	p.H253H	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		3	981	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		253			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.759C>T	CCDS11625.1																																																																																				0.363	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	
EMILIN2	84034	broad.mit.edu	37	18	2847912	2847912	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:2847912C>T	ENST00000254528.3	+	2	399	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	80	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACCAGATGCCCTGTCCGTCGG	0.662																																						uc002kln.2																			0				skin(2)|ovary(1)	3						c.(238-240)CCC>CCT		elastin microfibril interfacer 2 precursor							61.0	57.0	58.0					18																	2847912		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2847912C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.240C>T	18.37:g.2847912C>T							p.P80P	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	2	399	+			80			EMI.		B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.240C>T	CCDS11828.1																																																																																				0.662	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
ANKRD20A5P	440482	broad.mit.edu	37	18	14183719	14183719	+	RNA	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:14183719G>T	ENST00000581935.1	+	0	570							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						AACAGAAAATGCCAGATTGAT	0.393																																						uc010xag.1																			0											c.(271-273)TGC>TTC		RecName: Full=Putative ankyrin repeat domain-containing protein 20A5;							117.0	115.0	116.0					18																	14183719		2203	4300	6503			0							g.chr18:14183719G>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183719G>T						uc002ksv.1_5'Flank	p.C91F							2	570	+								Q4G1B6	Missense_Mutation	SNP	ENST00000581935.1	37	c.272G>T																																																																																					0.393	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
TCEB3C	162699	broad.mit.edu	37	18	44554653	44554653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:44554653G>A	ENST00000330682.2	-	1	1796	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGTTTTCGGGTTTTGTcc	0.652																																						uc010xdb.1																			0					0						c.(1561-1563)CGA>TGA		transcription elongation factor B polypeptide							3.0	2.0	2.0					18																	44554653		634	1215	1849	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554653G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1561C>T	18.37:g.44554653G>A	ENSP00000328232:p.Arg521*					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.R521*	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1797	-			521						Nonsense_Mutation	SNP	ENST00000330682.2	37	c.1561C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	19.96	3.924007	0.73213	.	.	ENSG00000183791	ENST00000330682	.	.	.	1.55	0.347	0.16022	.	0.378221	0.18051	U	0.153278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1755	4.7065	0.12853	0.0:0.0:0.4652:0.5348	.	.	.	.	X	521	.	ENSP00000328232:R521X	R	-	1	2	TCEB3C	42808651	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.096000	0.11059	0.091000	0.17302	0.485000	0.47835	CGA		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653	
TET3	200424	broad.mit.edu	37	2	74274539	74274539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:74274539C>T	ENST00000409262.3	+	1	1090	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	364					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTTCCTCCCCGGCCCCGGC	0.652																																						uc002skb.3																			0					0						c.(1090-1092)CCG>TCG		tet oncogene family member 3							27.0	33.0	31.0					2																	74274539		1984	4139	6123	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274539C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1090C>T	2.37:g.74274539C>T	ENSP00000386869:p.Pro364Ser					TET3_uc010fez.1_Missense_Mutation_p.P364S	p.P364S	NM_144993	NP_659430	O43151	TET3_HUMAN			1	1090	+			364					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1090C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	0.717	-0.785056	0.02907	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.21543	2.0;2.83	5.18	4.3	0.51218	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.25498	N	0.987587	B	0.17852	0.024	B	0.12837	0.008	T	0.29181	-1.0020	9	0.23302	T	0.38	.	4.6276	0.12486	0.154:0.6129:0.1494:0.0837	.	364	O43151	TET3_HUMAN	S	406;364;364	ENSP00000307803:P406S;ENSP00000386869:P364S	ENSP00000233310:P364S	P	+	1	0	TET3	74128047	0.000000	0.05858	0.953000	0.39169	0.078000	0.17371	0.703000	0.25646	1.309000	0.44985	-0.136000	0.14681	CCG		0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
AMER3	205147	broad.mit.edu	37	2	131521195	131521195	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:131521195C>T	ENST00000423981.1	+	2	1660	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	AMER3_ENST00000321420.4_Missense_Mutation_p.T517M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	517					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CGAGGCCCCACGCCCCGTGCC	0.687																																						uc002trw.2																			0				pancreas(2)|ovary(1)	3						c.(1549-1551)ACG>ATG		hypothetical protein LOC205147							6.0	6.0	6.0					2																	131521195		2121	4139	6260	SO:0001583	missense	205147							g.chr2:131521195C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1550C>T	2.37:g.131521195C>T	ENSP00000392700:p.Thr517Met					FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M	p.T517M	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1740	+	Colorectal(110;0.1)		517					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1550C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448441	0.26074	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.44881	0.91;0.91	4.04	-3.56	0.04626	.	1.573170	0.03869	N	0.275309	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.14090	-1.0485	10	0.46703	T	0.11	.	1.0461	0.01570	0.3157:0.2201:0.3135:0.1507	.	517	Q8N944	F123C_HUMAN	M	517	ENSP00000314914:T517M;ENSP00000392700:T517M	ENSP00000314914:T517M	T	+	2	0	FAM123C	131237665	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.133000	0.10451	-0.630000	0.05567	-1.134000	0.01955	ACG		0.687	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
THSD7B	80731	broad.mit.edu	37	2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	rs61741154	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:137988713C>T	ENST00000409968.1	+	8	2001	c.1823C>T	c.(1822-1824)aCg>aTg	p.T608M	THSD7B_ENST00000272643.3_Missense_Mutation_p.T608M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T577M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	608	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517																																						uc002tva.1																			1	Substitution - Missense(1)		prostate(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1729-1731)ACG>ATG		thrombospondin, type I, domain containing 7B		C	MET/THR	0,3986		0,0,1993	81.0	82.0	82.0		1730	5.0	1.0	2	dbSNP_129	82	3,8313		0,3,4155	yes	missense	THSD7B	NM_001080427.1	81	0,3,6148	TT,TC,CC		0.0361,0.0,0.0244	probably-damaging	577/1578	137988713	3,12299	1993	4158	6151	SO:0001583	missense	80731							g.chr2:137988713C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1823C>T	2.37:g.137988713C>T	ENSP00000387145:p.Thr608Met					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M	p.T577M	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1730	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1730C>T		.	.	.	.	.	.	.	.	.	.	C	23.6	4.436908	0.83885	0.0	3.61E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61980	0.06;0.06;0.06	5.89	4.99	0.66335	.	0.098252	0.64402	D	0.000001	T	0.79335	0.4428	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.67900	0.954;0.72	T	0.82705	-0.0325	10	0.72032	D	0.01	.	14.2204	0.65823	0.0:0.9259:0.0:0.0741	rs61741154	608;577	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	608;608;577	ENSP00000387145:T608M;ENSP00000272643:T608M;ENSP00000413841:T577M	ENSP00000272643:T608M	T	+	2	0	THSD7B	137705183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.092000	0.71414	1.436000	0.47453	0.563000	0.77884	ACG		0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
XIRP2	129446	broad.mit.edu	37	2	168101235	168101235	+	Silent	SNP	G	G	A	rs377465352		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:168101235G>A	ENST00000409195.1	+	9	3422	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	XIRP2_ENST00000409273.1_Silent_p.S889S|XIRP2_ENST00000295237.9_Silent_p.S1111S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAGTTTCGTTAATGACCA	0.368																																						uc002udx.2																			0				skin(7)|ovary(6)|pancreas(1)	14						c.(3331-3333)TCG>TCA		xin actin-binding repeat containing 2 isoform 1							49.0	45.0	46.0					2																	168101235		1825	4077	5902	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101235G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3333G>A	2.37:g.168101235G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S936S|XIRP2_uc010fpq.2_Silent_p.S889S|XIRP2_uc010fpr.2_Intron	p.S1111S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3351	+			936					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.3333G>A	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000589042.1_Silent_p.G1106G|TTN_ENST00000360870.5_Silent_p.G1106G|TTN_ENST00000342175.6_Silent_p.G1060G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000460472.2_Silent_p.G1060G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3316-3318)GGC>GGT		titin isoform N2-A		G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83.0	81.0	81.0		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647001G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3318C>T	2.37:g.179647001G>A						TTN_uc010zfh.1_Silent_p.G1060G|TTN_uc010zfi.1_Silent_p.G1060G|TTN_uc010zfj.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		20	3542	-			1106					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3318C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
BPIFA2	140683	broad.mit.edu	37	20	31760743	31760743	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:31760743C>A	ENST00000253362.2	+	3	309	c.163C>A	c.(163-165)Ctt>Att	p.L55I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.L55I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	55						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GGCAGGCATCCTTGAGAAACT	0.483																																						uc002wyo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(163-165)CTT>ATT		chromosome 20 open reading frame 70 precursor							84.0	78.0	80.0					20																	31760743		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31760743C>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.163C>A	20.37:g.31760743C>A	ENSP00000253362:p.Leu55Ile						p.L55I	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			3	234	+			55					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.163C>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068250	0.20067	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.19532	2.14;2.14	3.87	-7.74	0.01241	.	2.295750	0.01552	N	0.019719	T	0.17534	0.0421	L	0.50333	1.59	0.09310	N	1	B	0.33345	0.409	B	0.37550	0.253	T	0.16247	-1.0409	10	0.32370	T	0.25	-24.5962	2.9247	0.05780	0.2256:0.1616:0.447:0.1658	.	55	Q96DR5	BPIA2_HUMAN	I	55	ENSP00000253362:L55I;ENSP00000347012:L55I	ENSP00000253362:L55I	L	+	1	0	BPIFA2	31224404	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.769000	0.00371	-1.787000	0.01268	0.561000	0.74099	CTT		0.483	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574	
TRPC4AP	26133	broad.mit.edu	37	20	33591328	33591328	+	Missense_Mutation	SNP	C	C	T	rs146813768		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:33591328C>T	ENST00000252015.2	-	18	2230	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R706Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R316Q|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R675Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	714					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCTCCATCCGCTGCAGCAG	0.612																																						uc002xbk.2																			0				central_nervous_system(1)|skin(1)	2						c.(2140-2142)CGG>CAG		TRPC4-associated protein isoform a		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	43.0	40.0	41.0		2141,2117	3.6	1.0	20	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRPC4AP	NM_015638.2,NM_199368.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	714/798,706/790	33591328	1,13005	2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591328C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2141G>A	20.37:g.33591328C>T	ENSP00000252015:p.Arg714Gln					TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R305Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R706Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R675Q	p.R714Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2175	-			714					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.2141G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847797	0.51164	0.0	1.16E-4	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.62	3.6	0.41247	.	0.348081	0.31989	N	0.006755	T	0.24314	0.0589	N	0.14661	0.345	0.34804	D	0.737013	B;B;B	0.18968	0.032;0.008;0.015	B;B;B	0.10450	0.005;0.002;0.002	T	0.19647	-1.0299	9	0.30854	T	0.27	.	3.7115	0.08421	0.0:0.6599:0.0:0.34	.	675;706;714	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	Q	714;706;316;675;699	.	ENSP00000252015:R714Q	R	-	2	0	TRPC4AP	33054989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.376000	0.81061	0.462000	0.41574	CGG		0.612	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
TSHZ2	128553	broad.mit.edu	37	20	51870234	51870234	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:51870234C>T	ENST00000371497.5	+	2	1124	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TSHZ2_ENST00000603338.2_Silent_p.A76A|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.A76A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	79					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGATGCCGAGAACGAGT	0.537																																						uc002xwo.2																			0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(235-237)GCC>GCT		teashirt zinc finger homeobox 2							134.0	113.0	120.0					20																	51870234		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870234C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.237C>T	20.37:g.51870234C>T							p.A79A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1193	+			79					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.237C>T	CCDS33490.1																																																																																				0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
MC3R	4159	broad.mit.edu	37	20	54824418	54824418	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:54824418C>T	ENST00000243911.2	+	1	631	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	173					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCTGCGGCGTCTGTGGCG	0.562																																						uc002xxb.2																			0				ovary(2)|breast(2)	4						c.(517-519)GGC>GGT		melanocortin 3 receptor							211.0	193.0	199.0					20																	54824418		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824418C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.519C>T	20.37:g.54824418C>T							p.G173G	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	631	+			210			Helical; Name=4; (Potential).		Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.519C>T	CCDS13449.2																																																																																				0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
BAGE2	85319	broad.mit.edu	37	21	11058294	11058294	+	RNA	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr21:11058294G>A	ENST00000470054.1	-	0	353							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTGATAGTGGCTCCAAAGT	0.403																																						uc002yit.1																			0					0						c.(145-147)CCA>CTA		B melanoma antigen family, member 2 precursor							130.0	98.0	108.0					21																	11058294		692	1591	2283			85319							g.chr21:11058294G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058294G>A						BAGE_uc002yiw.1_RNA	p.P49L	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	354	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.146C>T																																																																																					0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482	
ACR	49	broad.mit.edu	37	22	51183292	51183292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr22:51183292G>A	ENST00000216139.5	+	5	963	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	308					acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCACTCGACCGCCCCCG	0.602																																						uc003bnh.3																			0					0						c.(922-924)CGA>CAA		acrosin precursor							24.0	22.0	22.0					22																	51183292		2187	4293	6480	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51183292G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.923G>A	22.37:g.51183292G>A	ENSP00000216139:p.Arg308Gln						p.R308Q	NM_001097	NP_001088	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	5	935	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	308					Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.923G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	1.376	-0.584688	0.03827	.	.	ENSG00000100312	ENST00000216139	D	0.88046	-2.33	1.7	-3.39	0.04868	.	4.786120	0.00567	N	0.000295	T	0.70124	0.3188	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.62001	-0.6946	10	0.12766	T	0.61	4.3093	3.8934	0.09128	0.3159:0.4988:0.1852:0.0	.	308	P10323	ACRO_HUMAN	Q	308	ENSP00000216139:R308Q	ENSP00000216139:R308Q	R	+	2	0	ACR	49530158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.266000	0.01171	-0.883000	0.03982	-0.680000	0.03767	CGA		0.602	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097	
METTL6	131965	broad.mit.edu	37	3	15468122	15468122	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs140376877	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:15468122C>T	ENST00000443029.1	-	0	137				METTL6_ENST00000383789.5_De_novo_Start_OutOfFrame|METTL6_ENST00000383790.3_De_novo_Start_OutOfFrame|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000450816.2_De_novo_Start_OutOfFrame|EAF1_ENST00000396842.2_5'Flank			Q8TCB7	METL6_HUMAN	methyltransferase like 6								methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GTGAGTTTCACGCCTCAAACA	0.418													C|||	4	0.000798722	0.003	0.0	5008	,	,		20111	0.0		0.0	False		,,,				2504	0.0					uc003bzs.1																			0					0						c.(-105--101)GCGTG>GCATG		methyltransferase like 6		C		4,1380		0,4,688	91.0	75.0	80.0			-8.3	0.0	3	dbSNP_134	80	0,3182		0,0,1591	no	utr-5	METTL6	NM_152396.2		0,4,2279	TT,TC,CC		0.0,0.289,0.0876			15468122	4,4562	692	1591	2283			131965						methyltransferase activity	g.chr3:15468122C>T	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.-104G>A	3.37:g.15468122C>T						METTL6_uc011avp.1_Translation_Start_Site|METTL6_uc003bzt.1_Translation_Start_Site|EAF1_uc003bzu.2_5'Flank|EAF1_uc011avq.1_5'Flank		NM_152396	NP_689609	Q8TCB7	METL6_HUMAN			2	155	-								Q96LU4	Translation_Start_Site	SNP	ENST00000443029.1	37	c.-103G>A	CCDS43056.1																																																																																				0.418	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
TIPARP	25976	broad.mit.edu	37	3	156422618	156422618	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:156422618A>G	ENST00000461166.1	+	6	2260	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	TIPARP_ENST00000542783.1_Missense_Mutation_p.M558V|TIPARP_ENST00000486483.1_Missense_Mutation_p.M558V|TIPARP_ENST00000295924.7_Missense_Mutation_p.M558V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	558	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGCTACAATGTTTGGACA	0.408																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2																			0				ovary(1)|breast(1)	2						c.(1672-1674)ATG>GTG		TCDD-inducible poly(ADP-ribose) polymerase							172.0	172.0	172.0					3																	156422618		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422618A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1672A>G	3.37:g.156422618A>G	ENSP00000420612:p.Met558Val					TIPARP_uc003faw.2_Missense_Mutation_p.M558V	p.M558V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	1920	+			558			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1672A>G	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.360309|1.360309	0.24598|0.24598	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48;2.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Poly(ADP-ribose) polymerase, catalytic domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49983|0.49983	0.1589|0.1589	N|N	0.16743|0.16743	0.435|0.435	0.53005|0.53005	D|D	0.999966|0.999966	B|.	0.29646|.	0.253|.	B|.	0.33042|.	0.157|.	T|T	0.47235|0.47235	-0.9133|-0.9133	10|5	0.02654|.	T|.	1|.	.|.	15.7658|15.7658	0.78126|0.78126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q7Z3E1|.	PARPT_HUMAN|.	V|S	558|260	ENSP00000418757:M558V;ENSP00000295924:M558V;ENSP00000420612:M558V;ENSP00000418829:M558V;ENSP00000438345:M558V|.	ENSP00000295924:M558V|.	M|N	+|+	1|2	0|0	TIPARP|TIPARP	157905312|157905312	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	7.576000|7.576000	0.82467|0.82467	2.201000|2.201000	0.70794|0.70794	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.408	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
VPS8	23355	broad.mit.edu	37	3	184648300	184648300	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:184648300G>A	ENST00000437079.3	+	34	3013	c.2842G>A	c.(2842-2844)Gga>Aga	p.G948R	VPS8_ENST00000436792.2_Missense_Mutation_p.G946R|VPS8_ENST00000446204.2_Missense_Mutation_p.G856R|VPS8_ENST00000287546.4_Missense_Mutation_p.G948R|VPS8_ENST00000463687.1_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	948							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCCATTCCCGGACACAGTGC	0.393																																						uc003fpb.1																			0				ovary(1)	1						c.(2836-2838)GGA>AGA		vacuolar protein sorting 8 homolog isoform b							173.0	163.0	166.0					3																	184648300		1965	4156	6121	SO:0001583	missense	23355						zinc ion binding	g.chr3:184648300G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2842G>A	3.37:g.184648300G>A	ENSP00000397879:p.Gly948Arg					VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	p.G946R	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	3007	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		948					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2836G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150517	0.94645	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19250	2.17;2.17;2.17;2.16	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.987;0.997;0.997	P;P;P	0.62014	0.544;0.897;0.832	T	0.02004	-1.1231	10	0.15066	T	0.55	-1.6049	19.8893	0.96923	0.0:0.0:1.0:0.0	.	948;856;946	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	R	948;948;946;856	ENSP00000287546:G948R;ENSP00000397879:G948R;ENSP00000404704:G946R;ENSP00000405483:G856R	ENSP00000287546:G948R	G	+	1	0	VPS8	186130994	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.971000	0.93419	2.788000	0.95919	0.650000	0.86243	GGA		0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
CABS1	85438	broad.mit.edu	37	4	71201281	71201281	+	Silent	SNP	C	C	T	rs541997419	byFrequency	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:71201281C>T	ENST00000273936.5	+	1	599	c.525C>T	c.(523-525)gaC>gaT	p.D175D		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	175					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGTTGCTGACGCTCCTGCCT	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		21294	0.0		0.0	False		,,,				2504	0.0031					uc003hff.2																			0					0						c.(523-525)GAC>GAT		testis development protein NYD-SP26							54.0	58.0	57.0					4																	71201281		2200	4297	6497	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201281C>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.525C>T	4.37:g.71201281C>T							p.D175D	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	611	+		all_hematologic(202;0.196)	175					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.525C>T	CCDS3539.1																																																																																				0.463	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
FGG	2266	broad.mit.edu	37	4	155528020	155528020	+	Silent	SNP	G	G	A	rs146218442		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:155528020G>A	ENST00000336098.3	-	8	1004	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_ENST00000404648.3_Silent_p.G322G|FGG_ENST00000405164.1_Silent_p.G330G|FGG_ENST00000407946.1_Silent_p.G330G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	322	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473																																						uc003ioj.2																			0					0						c.(964-966)GGC>GGT		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)	G	,	0,4406		0,0,2203	241.0	212.0	222.0		966,966	-11.6	0.9	4	dbSNP_134	222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FGG	NM_000509.4,NM_021870.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	322/438,322/454	155528020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528020G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.966C>T	4.37:g.155528020G>A						FGG_uc003iog.2_Silent_p.G322G|FGG_uc003ioh.2_Silent_p.G330G|FGG_uc010ipx.2_Silent_p.G150G|FGG_uc010ipy.2_Silent_p.G33G|FGG_uc003ioi.2_Silent_p.G33G|FGG_uc003iok.2_Silent_p.G330G	p.G322G	NM_021870	NP_068656	P02679	FIBG_HUMAN			8	1107	-	all_hematologic(180;0.215)	Renal(120;0.0458)	322			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.966C>T	CCDS3788.1																																																																																				0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
NKD2	85409	broad.mit.edu	37	5	1033572	1033572	+	Silent	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:1033572C>G	ENST00000296849.5	+	5	517	c.288C>G	c.(286-288)cgC>cgG	p.R96R	NKD2_ENST00000274150.4_Silent_p.R96R|NKD2_ENST00000537972.1_Silent_p.R96R	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	96	Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692																																						uc003jbt.1																			0					0						c.(286-288)CGC>CGG		naked cuticle homolog 2							21.0	27.0	25.0					5																	1033572		2148	4224	6372	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1033572C>G	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.288C>G	5.37:g.1033572C>G						NKD2_uc010itf.1_Silent_p.R96R	p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		5	293	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		96			Targeting to the basolateral cell membrane.		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.288C>G	CCDS3859.1																																																																																				0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120	
PCDHGB2	56103	broad.mit.edu	37	5	140741624	140741624	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:140741624G>A	ENST00000522605.1	+	1	1922	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCCAGCGCCTGCTGGTC	0.687																																						uc003ljs.1																			0					0						c.(1921-1923)CGC>CAC		protocadherin gamma subfamily B, 2 isoform 1							14.0	17.0	16.0					5																	140741624		1876	4081	5957	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741624G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1922G>A	5.37:g.140741624G>A	ENSP00000429018:p.Arg641His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R641H|PCDHGA5_uc011das.1_5'Flank	p.R641H	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1922	+			641			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1922G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	17.44	3.390391	0.62066	.	.	ENSG00000253910	ENST00000522605	T	0.51817	0.69	5.05	4.16	0.48862	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50086	0.1595	L	0.37800	1.135	0.23624	N	0.99727	P;D	0.53619	0.935;0.961	P;P	0.55222	0.462;0.771	T	0.36817	-0.9732	9	0.72032	D	0.01	.	9.4548	0.38747	0.1617:0.0:0.8383:0.0	.	641;641	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	H	641	ENSP00000429018:R641H	ENSP00000429018:R641H	R	+	2	0	PCDHGB2	140721808	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	0.548000	0.23314	2.510000	0.84645	0.454000	0.30748	CGC		0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
KIF4B	285643	broad.mit.edu	37	5	154396976	154396976	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:154396976C>A	ENST00000435029.4	+	1	3717	c.3557C>A	c.(3556-3558)gCt>gAt	p.A1186D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1186	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493																																						uc010jih.1																			0				ovary(1)	1						c.(3556-3558)GCT>GAT		kinesin family member 4B							69.0	73.0	72.0					5																	154396976		2201	4300	6501	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396976C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3557C>A	5.37:g.154396976C>A	ENSP00000387875:p.Ala1186Asp						p.A1186D	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3717	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1186			Interaction with PRC1 (By similarity).|Globular (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3557C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243200	0.10077	.	.	ENSG00000226650	ENST00000435029	T	0.46819	0.86	1.77	0.876	0.19138	.	.	.	.	.	T	0.34454	0.0898	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22836	-1.0205	9	0.36615	T	0.2	.	6.2959	0.21085	0.0:0.8228:0.0:0.1772	.	1186	Q2VIQ3	KIF4B_HUMAN	D	1186	ENSP00000387875:A1186D	ENSP00000387875:A1186D	A	+	2	0	KIF4B	154377169	0.337000	0.24766	0.002000	0.10522	0.004000	0.04260	1.728000	0.38105	0.303000	0.22785	-0.253000	0.11424	GCT		0.493	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
DUSP22	56940	broad.mit.edu	37	6	335117	335117	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:335117G>T	ENST00000344450.5	+	4	585	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F	DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.V48F|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000604971.1_Intron	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	48					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGCAGGGAGTTAAATACCT	0.299																																						uc003msx.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(142-144)GTT>TTT		dual specificity phosphatase 22							59.0	64.0	62.0					6																	335117		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:335117G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.142G>T	6.37:g.335117G>T	ENSP00000345281:p.Val48Phe					DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	p.V48F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	581	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	48					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.142G>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392224	0.62066	.	.	ENSG00000112679	ENST00000344450	T	0.60040	0.22	5.79	3.93	0.45458	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.087493	0.48286	D	0.000181	T	0.28234	0.0697	N	0.05592	-0.015	0.43054	D	0.994663	B;D;P	0.58268	0.066;0.982;0.954	B;P;P	0.57620	0.017;0.824;0.568	T	0.34576	-0.9823	10	0.02654	T	1	.	9.882	0.41238	0.0795:0.1424:0.7781:0.0	.	48;5;48	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	F	48	ENSP00000345281:V48F	ENSP00000345281:V48F	V	+	1	0	DUSP22	280117	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.112000	0.41892	2.749000	0.94314	0.491000	0.48974	GTT		0.299	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185	
HFE	3077	broad.mit.edu	37	6	26091215	26091215	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:26091215G>A	ENST00000357618.5	+	2	345	c.223G>A	c.(223-225)Gtt>Att	p.V75I	HFE_ENST00000461397.1_Missense_Mutation_p.V75I|HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.V75I|HFE_ENST00000397022.3_Missense_Mutation_p.V52I|HFE_ENST00000353147.5_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.V75I|HFE_ENST00000349999.4_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.V75I|HFE_ENST00000317896.7_Missense_Mutation_p.V75I	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCATGGGTTTCCAGTAG	0.488									Hemochromatosis																													uc003nfx.1																			0					0						c.(223-225)GTT>ATT		hemochromatosis protein isoform 1 precursor							100.0	97.0	98.0					6																	26091215		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091215G>A		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.223G>A	6.37:g.26091215G>A	ENSP00000417404:p.Val75Ile					HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	p.V75I	NM_000410	NP_000401	Q30201	HFE_HUMAN			2	383	+			75			Extracellular (Potential).|Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.223G>A	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	G	2.851	-0.238366	0.05944	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	T;T;T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85;5.85;5.85	5.3	-10.3	0.00346	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.907150	0.02517	N	0.092133	T	0.00178	0.0005	N	0.13003	0.285	0.09310	N	0.999996	B;B;B;B;B;B	0.11235	0.0;0.002;0.004;0.0;0.0;0.0	B;B;B;B;B;B	0.12156	0.004;0.005;0.007;0.002;0.002;0.003	T	0.43925	-0.9361	10	0.18276	T	0.48	.	10.8081	0.46529	0.5234:0.3704:0.1062:0.0	.	75;75;75;75;52;75	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	I	52;75;75;75;75;75;75;75	ENSP00000380217:V52I;ENSP00000313776:V75I;ENSP00000417404:V75I;ENSP00000419725:V75I;ENSP00000337819:V75I;ENSP00000420802:V75I;ENSP00000311698:V75I	ENSP00000311698:V75I	V	+	1	0	HFE	26199194	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	-1.246000	0.02896	-1.876000	0.01131	0.655000	0.94253	GTT		0.488	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1		
TBC1D32	221322	broad.mit.edu	37	6	121625568	121625568	+	Missense_Mutation	SNP	C	C	T	rs377465896		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:121625568C>T	ENST00000398212.2	-	8	927	c.878G>A	c.(877-879)cGt>cAt	p.R293H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R293H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	293					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTTAGAAGACGAACCTACAA	0.358																																						uc003pyo.1																			0				central_nervous_system(2)|ovary(1)	3						c.(877-879)CGT>CAT		hypothetical protein LOC221322		C	HIS/ARG	0,3634		0,0,1817	86.0	82.0	83.0		878	5.1	1.0	6		83	1,8163		0,1,4081	no	missense	C6orf170	NM_152730.4	29	0,1,5898	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging	293/1258	121625568	1,11797	1817	4082	5899	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121625568C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.878G>A	6.37:g.121625568C>T	ENSP00000381270:p.Arg293His					C6orf170_uc003pyq.1_RNA	p.R293H	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	8	946	-			293					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.878G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796645	0.90453	0.0	1.22E-4	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.40515	-0.9559	10	0.45353	T	0.12	1.3238	18.4025	0.90522	0.0:1.0:0.0:0.0	.	293	Q96NH3	BROMI_HUMAN	H	293	ENSP00000275159:R293H;ENSP00000381270:R293H	ENSP00000275159:R293H	R	-	2	0	C6orf170	121667267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.460000	0.80816	2.316000	0.78162	0.650000	0.86243	CGT		0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
RBAK	57786	broad.mit.edu	37	7	5097035	5097035	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:5097035G>A	ENST00000353796.3	+	4	449	c.125G>A	c.(124-126)aGc>aAc	p.S42N	RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.S42N|RBAK-RBAKDN_ENST00000396904.2_Missense_Mutation_p.S42N|RBAK_ENST00000396912.1_Missense_Mutation_p.S42N	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAACTATAGCCATCTAGTT	0.433																																						uc010kss.1																			0				ovary(3)|kidney(1)|skin(1)	5						c.(124-126)AGC>AAC		RB-associated KRAB repressor							264.0	264.0	264.0					7																	5097035		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5097035G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.125G>A	7.37:g.5097035G>A	ENSP00000275423:p.Ser42Asn					LOC389458_uc003snr.2_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	p.S42N	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	4	449	+		Ovarian(82;0.0175)	42			KRAB.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.125G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	6.045	0.376698	0.11466	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396904;ENST00000396912	T;T;T;T	0.02050	4.48;4.48;4.48;4.48	2.88	0.0287	0.14159	Krueppel-associated box (4);	0.275268	0.26359	N	0.024825	T	0.03477	0.0100	M	0.80028	2.48	0.26497	N	0.974838	B	0.12630	0.006	B	0.13407	0.009	T	0.06862	-1.0803	9	0.38643	T	0.18	.	5.8623	0.18754	0.5488:0.0:0.4512:0.0	.	42	Q9NYW8	RBAK_HUMAN	N	42	ENSP00000385560:S42N;ENSP00000275423:S42N;ENSP00000380112:S42N;ENSP00000380120:S42N	ENSP00000275423:S42N	S	+	2	0	RBAK	5063561	0.006000	0.16342	0.097000	0.21041	0.014000	0.08584	0.715000	0.25822	-0.014000	0.14175	-0.259000	0.10710	AGC		0.433	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163	
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																						uc003vwy.2																			2	Substitution - coding silent(2)		prostate(2)	ovary(2)	2						c.(3979-3981)CCT>CCC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C							p.P1327P	NM_004668	NP_004659	O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PDGFRL	5157	broad.mit.edu	37	8	17447275	17447275	+	Splice_Site	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr8:17447275G>A	ENST00000541323.1	+	3	798		c.e3+1		PDGFRL_ENST00000251630.6_Splice_Site|PDGFRL_ENST00000398074.3_Splice_Site	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like						G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTCGCCTCAGGTAAGCATTTT	0.403																																						uc003wxr.2																			0					0						c.e2+1		platelet-derived growth factor receptor-like							60.0	57.0	58.0					8																	17447275		2195	4287	6482	SO:0001630	splice_region_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447275G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.353+1G>A	8.37:g.17447275G>A							p.S118_splice	NM_006207	NP_006198	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	2	414	+								A8K085|Q6FH04	Splice_Site	SNP	ENST00000541323.1	37	c.353_splice	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325832	0.41197	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2415	0.87014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDGFRL	17491535	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	9.173000	0.94815	2.378000	0.81104	0.579000	0.79373	.		0.403	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207	Intron
RANBP6	26953	broad.mit.edu	37	9	6014248	6014248	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:6014248G>T	ENST00000259569.5	-	1	1370	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	454					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTACGTAACAGAGCTGCAATC	0.413																																						uc003zjr.2																			0				ovary(3)	3						c.(1360-1362)CTG>ATG		RAN binding protein 6							64.0	63.0	63.0					9																	6014248		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014248G>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1360C>A	9.37:g.6014248G>T	ENSP00000259569:p.Leu454Met					RANBP6_uc011lmf.1_Missense_Mutation_p.L102M|RANBP6_uc003zjs.2_Missense_Mutation_p.L42M	p.L454M	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1371	-		Acute lymphoblastic leukemia(23;0.158)	454			HEAT 4.		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1360C>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985686	0.35036	.	.	ENSG00000137040	ENST00000259569	T	0.49432	0.78	4.21	-1.16	0.09678	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.90369	3.11	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.78314	0.98;0.991	T	0.67780	-0.5582	10	0.66056	D	0.02	-4.8422	8.5278	0.33315	0.4949:0.0:0.5051:0.0	.	42;454	B4DTX6;O60518	.;RNBP6_HUMAN	M	454	ENSP00000259569:L454M	ENSP00000259569:L454M	L	-	1	2	RANBP6	6004248	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.385000	0.44371	-0.160000	0.11002	-0.355000	0.07637	CTG		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
PLIN2	123	broad.mit.edu	37	9	19120899	19120899	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:19120899G>A	ENST00000276914.2	-	5	753	c.574C>T	c.(574-576)Cct>Tct	p.P192S	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	192					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGTGAGAGGGAGGTACTGT	0.403																																						uc003zno.2																			0				ovary(2)	2						c.(574-576)CCT>TCT		adipose differentiation-related protein							118.0	108.0	112.0					9																	19120899		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19120899G>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.574C>T	9.37:g.19120899G>A	ENSP00000276914:p.Pro192Ser					PLIN2_uc011lna.1_Missense_Mutation_p.P164S|PLIN2_uc011lnb.1_Intron	p.P192S	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			5	753	-			192					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.574C>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780291	0.90195	.	.	ENSG00000147872	ENST00000276914	T	0.54071	0.59	4.86	4.86	0.63082	.	0.220853	0.47852	N	0.000214	T	0.78400	0.4277	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82364	-0.0494	10	0.59425	D	0.04	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	192	Q99541	PLIN2_HUMAN	S	192	ENSP00000276914:P192S	ENSP00000276914:P192S	P	-	1	0	PLIN2	19110899	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.567000	0.98161	2.712000	0.92718	0.650000	0.86243	CCT		0.403	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
TMOD1	7111	broad.mit.edu	37	9	100353675	100353675	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:100353675C>T	ENST00000259365.4	+	9	1186	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TMOD1_ENST00000395211.2_Missense_Mutation_p.R325W|TMOD1_ENST00000375175.1_Missense_Mutation_p.R198W	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	325					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAAGGACCCCGGCTTCGGGC	0.512																																						uc004axk.1																			0					0						c.(973-975)CGG>TGG		tropomodulin 1							98.0	95.0	96.0					9																	100353675		2203	4300	6503	SO:0001583	missense	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100353675C>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.973C>T	9.37:g.100353675C>T	ENSP00000259365:p.Arg325Trp					TMOD1_uc004axl.1_Missense_Mutation_p.R325W	p.R325W	NM_003275	NP_003266	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	9	1186	+		Acute lymphoblastic leukemia(62;0.154)	325					B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	c.973C>T	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617308	0.87359	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.95103	-3.61;-3.61;-3.61	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.97489	0.9178	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97957	1.0335	10	0.87932	D	0	-14.4527	14.7121	0.69241	0.1456:0.8544:0.0:0.0	.	325	P28289	TMOD1_HUMAN	W	325;325;198	ENSP00000378637:R325W;ENSP00000259365:R325W;ENSP00000364318:R198W	ENSP00000259365:R325W	R	+	1	2	TMOD1	99393496	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.772000	0.47678	2.680000	0.91292	0.467000	0.42956	CGG		0.512	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	
SLC44A1	23446	broad.mit.edu	37	9	108110683	108110683	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:108110683A>G	ENST00000374720.3	+	5	698	c.451A>G	c.(451-453)Aca>Gca	p.T151A	SLC44A1_ENST00000374724.1_Missense_Mutation_p.T151A|SLC44A1_ENST00000374723.1_Missense_Mutation_p.T151A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	151					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGAATACACTACATCTCCAAA	0.373																																						uc004bcn.2																			0				breast(3)|ovary(1)	4						c.(451-453)ACA>GCA		CDW92 antigen	Choline(DB00122)						128.0	125.0	126.0					9																	108110683		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110683A>G	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.451A>G	9.37:g.108110683A>G	ENSP00000363852:p.Thr151Ala					SLC44A1_uc010mtk.1_Missense_Mutation_p.T151A	p.T151A	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			5	672	+			151			Mitochondrial intermembrane (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.451A>G	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	6.058	0.379040	0.11466	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.79033	-1.23;-1.23;-1.23	5.09	1.1	0.20463	.	0.437631	0.25909	N	0.027519	T	0.51346	0.1669	N	0.12853	0.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.14643	-1.0465	10	0.16420	T	0.52	-13.807	3.4462	0.07481	0.6479:0.1451:0.0757:0.1313	.	151;151	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	A	151	ENSP00000363855:T151A;ENSP00000363852:T151A;ENSP00000363856:T151A	ENSP00000363852:T151A	T	+	1	0	SLC44A1	107150504	0.021000	0.18746	0.483000	0.27378	0.978000	0.69477	2.396000	0.44468	0.255000	0.21593	0.533000	0.62120	ACA		0.373	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
CELP	1057	broad.mit.edu	37	9	135961760	135961760	+	RNA	SNP	G	G	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:135961760G>C	ENST00000411440.2	+	0	595					NR_001275.2				carboxyl ester lipase pseudogene																		GGAGCCCTTTGCCACCCCACT	0.577																																						uc011mcu.1																			0					0						c.(502-504)GCC>CCC		Homo sapiens cDNA FLJ25862 fis, clone CBR01781.																																						1057							g.chr9:135961760G>C	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135961760G>C							p.A168P	NR_001275						4	595	+									Missense_Mutation	SNP	ENST00000411440.2	37	c.502G>C																																																																																					0.577	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808	
MED22	6837	broad.mit.edu	37	9	136211100	136211100	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:136211100A>G	ENST00000491289.1	-	4	874	c.293T>C	c.(292-294)aTt>aCt	p.I98T	MED22_ENST00000371999.1_Missense_Mutation_p.I92T|MED22_ENST00000344469.5_Missense_Mutation_p.I98T|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Missense_Mutation_p.I98T|MED22_ENST00000343730.5_Missense_Mutation_p.I98T			Q15528	MED22_HUMAN	mediator complex subunit 22	98						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCGCTGGTCAATGGCCTCGTT	0.602																																						uc004cdc.2																			0				ovary(1)	1						c.(292-294)ATT>ACT		mediator complex subunit 22 isoform b							134.0	109.0	118.0					9																	136211100		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136211100A>G		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.293T>C	9.37:g.136211100A>G	ENSP00000420393:p.Ile98Thr					MED22_uc004cdd.2_Missense_Mutation_p.I98T	p.I98T	NM_133640	NP_598395	Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	4	527	-			98			Potential.		B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.293T>C	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928024	0.52759	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.84	4.84	0.62591	.	0.095312	0.64402	D	0.000001	T	0.72415	0.3457	M	0.78049	2.395	0.80722	D	1	P;P	0.46784	0.69;0.884	B;P	0.51895	0.346;0.683	T	0.76258	-0.3025	9	0.56958	D	0.05	-10.2873	13.617	0.62115	1.0:0.0:0.0:0.0	.	98;98	Q15528-2;Q15528	.;MED22_HUMAN	T	98;98;98;98;98;92;98;98;98	.	ENSP00000342343:I98T	I	-	2	0	MED22	135200921	1.000000	0.71417	0.958000	0.39756	0.352000	0.29268	8.839000	0.92120	1.822000	0.53115	0.533000	0.62120	ATT		0.602	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640	
CFP	5199	broad.mit.edu	37	X	47486279	47486279	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:47486279G>T	ENST00000396992.3	-	6	953	c.833C>A	c.(832-834)aCc>aAc	p.T278N	CFP_ENST00000377005.2_Missense_Mutation_p.T278N|CFP_ENST00000247153.3_Missense_Mutation_p.T278N|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	278	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGTTCCATGGTCTGGCCCAG	0.662																																						uc004dig.3																			0				breast(2)|lung(1)	3						c.(832-834)ACC>AAC		complement factor properdin precursor							30.0	28.0	29.0					X																	47486279		2203	4297	6500	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486279G>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.833C>A	X.37:g.47486279G>T	ENSP00000380189:p.Thr278Asn					CFP_uc004dih.2_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	p.T278N	NM_001145252	NP_001138724	P27918	PROP_HUMAN			6	959	-			278			TSP type-1 4.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.833C>A	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	2.622	-0.288369	0.05605	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.33	-2.29	0.06805	.	0.615517	0.18277	N	0.146129	T	0.33000	0.0848	L	0.42632	1.34	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.18561	0.022;0.009	T	0.17319	-1.0373	10	0.15066	T	0.55	.	3.7857	0.08700	0.4619:0.0:0.2449:0.2932	.	214;278	B3KVK6;P27918	.;PROP_HUMAN	N	278;278;278;143	ENSP00000380189:T278N;ENSP00000247153:T278N;ENSP00000366204:T278N;ENSP00000418258:T143N	ENSP00000247153:T278N	T	-	2	0	CFP	47371223	0.000000	0.05858	0.022000	0.16811	0.610000	0.37248	-0.259000	0.08721	-0.287000	0.09064	0.529000	0.55759	ACC		0.662	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621	
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:48762551_48762552delGA	ENST00000247138.5	-	4	637_638	c.634_635delTC	c.(634-636)tccfs	p.S213fs	SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376521.1_Frame_Shift_Del_p.S213fs|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000445167.2_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	213			S -> F (in CDG2M). {ECO:0000269|PubMed:24115232}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649																																						uc004dlo.1																			0				breast(1)	1						c.(634-636)TCCfs		solute carrier family 35, member A2 isoform a																																				SO:0001589	frameshift_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762551_48762552delGA	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.634_635delTC	X.37:g.48762555_48762556delGA	ENSP00000247138:p.Ser213fs					SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.S240fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	p.S212fs	NM_005660	NP_005651	P78381	S35A2_HUMAN			4	638_639	-			212			Helical; (Potential).		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Frame_Shift_Del	DEL	ENST00000247138.5	37	c.634_635delTC	CCDS14311.1																																																																																				0.649	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660	
ITIH6	347365	broad.mit.edu	37	X	54777770	54777770	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:54777770C>T	ENST00000218436.6	-	12	3425	c.3396G>A	c.(3394-3396)ccG>ccA	p.P1132P		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1132					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTTGTGGCCCGGCCTTGGTG	0.572																																						uc004dtj.2																			0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3394-3396)CCG>CCA		inter-alpha (globulin) inhibitor H5-like							61.0	51.0	55.0					X																	54777770		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777770C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3396G>A	X.37:g.54777770C>T							p.P1132P	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			12	3426	-			1132					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3396G>A	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:125685588C>T	ENST00000371126.1	-	1	1246	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(1003-1005)CGC>CAC		DDB1 and CUL4 associated factor 12-like 1							50.0	47.0	48.0					X																	125685588		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685588C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1004G>A	X.37:g.125685588C>T	ENSP00000360167:p.Arg335His						p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1255	-			335					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1004G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000198889	ENST00000371126	T	0.67523	-0.27	3.64	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.32802	N	0.005622	T	0.79890	0.4524	M	0.82323	2.585	0.37719	D	0.924847	D	0.89917	1.0	D	0.85130	0.997	T	0.82222	-0.0564	10	0.72032	D	0.01	.	8.5546	0.33474	0.0:0.8793:0.0:0.1207	.	335	Q5VU92	DC121_HUMAN	H	335	ENSP00000360167:R335H	ENSP00000360167:R335H	R	-	2	0	DCAF12L1	125513269	1.000000	0.71417	0.014000	0.15608	0.382000	0.30200	4.631000	0.61304	0.925000	0.37094	0.429000	0.28392	CGC		0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
MAGEA10	4109	broad.mit.edu	37	X	151303380	151303380	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:151303380C>T	ENST00000370323.4	-	4	1029	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MAGEA10_ENST00000244096.3_Missense_Mutation_p.G238D|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTAGCCCTCTATGAA	0.527																																						uc004ffk.2																			0					0						c.(712-714)GGC>GAC		melanoma antigen family A, 10							72.0	67.0	69.0					X																	151303380		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303380C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.713G>A	X.37:g.151303380C>T	ENSP00000359347:p.Gly238Asp					MAGEA10_uc004ffl.2_Missense_Mutation_p.G238D	p.G238D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1121	-	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.713G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473770	0.63737	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.06371	3.31;3.31	2.6	0.755	0.18415	.	0.124523	0.56097	D	0.000039	T	0.08714	0.0216	L	0.44542	1.39	0.09310	N	1	D	0.57571	0.98	P	0.53146	0.719	T	0.16305	-1.0407	10	0.52906	T	0.07	.	4.5113	0.11912	0.0:0.6469:0.0:0.3531	.	238	P43363	MAGAA_HUMAN	D	238	ENSP00000359347:G238D;ENSP00000244096:G238D	ENSP00000244096:G238D	G	-	2	0	MAGEA10	151054036	0.002000	0.14202	0.001000	0.08648	0.887000	0.51463	0.118000	0.15605	0.072000	0.16694	0.292000	0.19580	GGC		0.527	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048	
