#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGAP29	9411	broad.mit.edu	37	1	94639989	94639989	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388																																						uc001dqj.4																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3220-3222)caG>caA		Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.							152.0	148.0	149.0					1																	94639989		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	g.chr1:94639989C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3222G>A	1.37:g.94639989C>T			Somatic				ARHGAP29_uc009wdq.1_Intron	p.Q1074Q	NM_004815	NP_004806	WXS	Illumina GAIIx	Phase_I	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	22	3591	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1074					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3222G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		5	226	0	0	0	1	0	5	226				
TRIM52	84851	broad.mit.edu	37	5	180687578	180687578	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:180687578G>C	ENST00000327767.4	-	1	541	c.237C>G	c.(235-237)gaC>gaG	p.D79E	TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	79	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GAATGGAGCCGTCCCATCCAT	0.552																																						uc003mnp.3																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(235-237)gaC>gaG		Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.							180.0	137.0	151.0					5																	180687578		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687578G>C		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.237C>G	5.37:g.180687578G>C	ENSP00000332152:p.Asp79Glu		Somatic				BC016291_uc003mnq.3_5'Flank	p.D79E	NM_032765	NP_116154	WXS	Illumina GAIIx	Phase_I	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	0	542	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	79			Glu-rich.			Missense_Mutation	SNP	ENST00000327767.4	37	c.237C>G	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677239	0.29783	.	.	ENSG00000183718	ENST00000327767	T	0.21734	1.99	3.45	1.6	0.23607	Zinc finger, RING-type (1);	.	.	.	.	T	0.13841	0.0335	L	0.32530	0.975	0.09310	N	1	P	0.47034	0.889	B	0.41236	0.351	T	0.13176	-1.0519	8	.	.	.	.	4.7237	0.12931	0.2923:0.0:0.7077:0.0	.	79	Q96A61	TRI52_HUMAN	E	79	ENSP00000332152:D79E	.	D	-	3	2	TRIM52	180620184	0.001000	0.12720	0.002000	0.10522	0.265000	0.26407	0.534000	0.23098	0.750000	0.32877	0.511000	0.50034	GAC		0.552	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		4	199	0	0	0	1	0	4	199				
DNASE2	1777	broad.mit.edu	37	19	12991901	12991901	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:12991901T>C	ENST00000222219.3	-	2	244	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	DNASE2_ENST00000538460.1_Missense_Mutation_p.Y51C|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	51					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGATACTTGTACTGCAGCCC	0.647																																						uc002mvn.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(151-153)tAc>tGc		Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.							38.0	43.0	41.0					19																	12991901		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding	g.chr19:12991901T>C	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.152A>G	19.37:g.12991901T>C	ENSP00000222219:p.Tyr51Cys		Somatic				DNASE2_uc010xmr.1_Missense_Mutation_p.Y51C	p.Y51C	NM_001375	NP_001366	WXS	Illumina GAIIx	Phase_I	O00115	DNS2A_HUMAN			1	298	-			51					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.152A>G	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231947	0.58777	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.16743	2.32;2.32	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.93062	3.375	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.62690	-0.6801	10	0.72032	D	0.01	.	13.3146	0.60399	0.0:0.0:0.0:1.0	.	51;51	B7Z4K6;O00115	.;DNS2A_HUMAN	C	51	ENSP00000222219:Y51C;ENSP00000445988:Y51C	ENSP00000222219:Y51C	Y	-	2	0	DNASE2	12852901	1.000000	0.71417	0.924000	0.36721	0.143000	0.21401	5.780000	0.68956	2.045000	0.60652	0.459000	0.35465	TAC		0.647	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			29	55	0	0	0	1	0	29	55				
FANCD2	2177	broad.mit.edu	37	3	10091163	10091163	+	Missense_Mutation	SNP	A	A	G	rs376708399		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:10091163A>G	ENST00000419585.1	+	17	1680	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	FANCD2_ENST00000383807.1_Missense_Mutation_p.M507V|FANCD2_ENST00000287647.3_Missense_Mutation_p.M507V|FANCD2_ENST00000383806.1_Missense_Mutation_p.M507V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	507					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCCATCTGCTATGATGATGAA	0.418			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1519-1521)Atg>Gtg	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.		A	VAL/MET,VAL/MET	0,4402		0,0,2201	210.0	226.0	221.0		1519,1519	3.2	1.0	3		221	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	21,21	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	507/1452,507/1472	10091163	1,12999	2201	4299	6500	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10091163A>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1519A>G	3.37:g.10091163A>G	ENSP00000398754:p.Met507Val		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.M507V|FANCD2_uc003buy.1_Missense_Mutation_p.M507V|FANCD2_uc010hcw.1_Non-coding_Transcript	p.M507V	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1597	+			507					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1519A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516647	0.27123	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.59	3.19	0.36642	.	0.205916	0.64402	N	0.000019	T	0.33411	0.0862	L	0.41710	1.295	0.31299	N	0.688489	B;B	0.20780	0.012;0.048	B;B	0.21360	0.034;0.034	T	0.27400	-1.0075	10	0.19590	T	0.45	.	7.3634	0.26760	0.7507:0.0:0.2493:0.0	.	507;507	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	507	ENSP00000287647:M507V;ENSP00000373318:M507V;ENSP00000373317:M507V;ENSP00000398754:M507V	ENSP00000287647:M507V	M	+	1	0	FANCD2	10066163	0.925000	0.31364	0.991000	0.47740	0.839000	0.47603	1.388000	0.34442	0.992000	0.38840	0.472000	0.43445	ATG		0.418	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	258	0	0	0	1	0	6	258				
RAB11FIP1	80223	broad.mit.edu	37	8	37720621	37720621	+	Missense_Mutation	SNP	G	G	A	rs367553328		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:37720621G>A	ENST00000330843.4	-	6	3656	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P581L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P433L|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1215	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGGTCCGAGGGGCTGTATTT	0.448																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3643-3645)cCc>cTc		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		G	LEU/PRO,LEU/PRO	1,4405		0,1,2202	74.0	80.0	78.0		3644,1742	6.0	1.0	8		78	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1215/1284,581/650	37720621	1,13005	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37720621G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3644C>T	8.37:g.37720621G>A	ENSP00000331342:p.Pro1215Leu		Somatic				RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P581L|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P544L	p.P1215L	NM_001002814	NP_001002814	WXS	Illumina GAIIx	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		5	3700	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1215			FIP-RBD.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3644C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840533	0.71488	2.27E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727	T;T;T	0.33438	2.07;2.41;1.41	6.03	6.03	0.97812	Rab-binding domain FIP-RBD (1);	0.000000	0.64402	D	0.000016	T	0.51702	0.1690	L	0.46157	1.445	0.80722	D	1	D;D;P	0.76494	0.999;0.971;0.476	D;P;B	0.70935	0.971;0.859;0.394	T	0.38045	-0.9679	10	0.52906	T	0.07	-24.8904	20.5752	0.99366	0.0:0.0:1.0:0.0	.	433;581;1215	E7EX40;Q6WKZ4-3;Q6WKZ4	.;.;RFIP1_HUMAN	L	581;1215;433	ENSP00000287263:P581L;ENSP00000331342:P1215L;ENSP00000430009:P433L	ENSP00000287263:P581L	P	-	2	0	RAB11FIP1	37839779	1.000000	0.71417	0.989000	0.46669	0.520000	0.34377	6.469000	0.73555	2.868000	0.98415	0.557000	0.71058	CCC		0.448	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	134	0	0	0	1	0	5	134				
LCTL	197021	broad.mit.edu	37	15	66842425	66842425	+	Silent	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:66842425G>C	ENST00000341509.5	-	12	1673	c.1542C>G	c.(1540-1542)ctC>ctG	p.L514L	LCTL_ENST00000537670.1_Silent_p.L341L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	514					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAAGCTTTGAGGTACCAAC	0.308																																						uc002aqc.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1540-1542)ctC>ctG		Homo sapiens lactase-like (LCTL), mRNA.							68.0	66.0	67.0					15																	66842425		2201	4298	6499	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66842425G>C	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1542C>G	15.37:g.66842425G>C			Somatic				LCTL_uc002aqd.4_Silent_p.L341L|LCTL_uc010bhw.3_Intron	p.L514L	NM_207338	NP_997221	WXS	Illumina GAIIx	Phase_I	Q6UWM7	LCTL_HUMAN			11	1674	-			514					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.1542C>G	CCDS10220.1																																																																																				0.308	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		3	61	0	0	0	1	0	3	61				
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						uc002shg.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		Homo sapiens CD207 molecule, langerin (CD207), mRNA.							127.0	137.0	134.0					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly		Somatic					p.D269G	NM_015717	NP_056532	WXS	Illumina GAIIx	Phase_I	Q9UJ71	CLC4K_HUMAN			4	853	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	125	0	0	0	1	0	5	125				
ASAP1	50807	broad.mit.edu	37	8	131067027	131067027	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:131067027C>T	ENST00000518721.1	-	30	3567	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E1114K	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1114	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCCTTCCTTTCAGGCTGTCCT	0.527																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(3340-3342)Gaa>Aaa		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							143.0	126.0	132.0					8																	131067027		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	g.chr8:131067027C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3340G>A	8.37:g.131067027C>T	ENSP00000429900:p.Glu1114Lys		Somatic				ASAP1_uc003ysz.2_Missense_Mutation_p.E925K|ASAP1_uc011liw.2_Missense_Mutation_p.E1107K	p.E1114K	NM_018482	NP_060952	WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			29	3568	-			1114			SH3.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.3340G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482441	0.63962	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.29917	1.55;1.55	5.62	5.62	0.85841	Src homology-3 domain (4);	0.280072	0.39210	N	0.001426	T	0.24624	0.0597	N	0.20685	0.6	0.80722	D	1	B;B;B	0.23735	0.09;0.09;0.073	B;B;B	0.28385	0.089;0.089;0.053	T	0.05068	-1.0908	10	0.22109	T	0.4	.	18.6495	0.91425	0.0:1.0:0.0:0.0	.	1114;1114;1117	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	K	1117;1114;1114	ENSP00000350297:E1114K;ENSP00000429900:E1114K	ENSP00000344591:E1117K	E	-	1	0	ASAP1	131136209	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	5.772000	0.68889	2.633000	0.89246	0.655000	0.94253	GAA		0.527	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	127	0	0	0	1	0	6	127				
TTC14	151613	broad.mit.edu	37	3	180328136	180328136	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:180328136A>G	ENST00000296015.4	+	12	2251	c.2119A>G	c.(2119-2121)Aca>Gca	p.T707A	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	707							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCGTTTAAATACAAATCAAGG	0.378																																						uc003fkk.3																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2119-2121)Aca>Gca		Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.							78.0	82.0	81.0					3																	180328136		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180328136A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2119A>G	3.37:g.180328136A>G	ENSP00000296015:p.Thr707Ala		Somatic				TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	p.T707A	NM_133462	NP_597719	WXS	Illumina GAIIx	Phase_I	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		11	2251	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		707					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2119A>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	9.764	1.170757	0.21621	.	.	ENSG00000163728	ENST00000296015	T	0.42513	0.97	6.04	-0.643	0.11482	.	0.387849	0.26089	N	0.026417	T	0.26268	0.0641	N	0.24115	0.695	0.23519	N	0.997509	P	0.43231	0.801	B	0.43990	0.438	T	0.13045	-1.0524	10	0.40728	T	0.16	-5.3662	5.6656	0.17693	0.5534:0.0:0.3275:0.1191	.	707	Q96N46	TTC14_HUMAN	A	707	ENSP00000296015:T707A	ENSP00000296015:T707A	T	+	1	0	TTC14	181810830	0.973000	0.33851	0.911000	0.35937	0.947000	0.59692	1.113000	0.31184	0.196000	0.20367	0.460000	0.39030	ACA		0.378	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		3	101	0	0	0	1	0	3	101				
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567																																						uc022axs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1804-1806)Gac>Cac		Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.							90.0	79.0	83.0					8																	92972658		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972658C>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1627G>C	8.37:g.92972658C>G	ENSP00000428543:p.Asp543His		Somatic				RUNX1T1_uc003yfc.2_Missense_Mutation_p.D516H|RUNX1T1_uc010mam.3_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D506H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D543H|RUNX1T1_uc022axo.1_Missense_Mutation_p.D543H|RUNX1T1_uc010mao.3_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D554H|RUNX1T1_uc022axp.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axq.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axr.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axt.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axu.1_Missense_Mutation_p.D523H|RUNX1T1_uc022axv.1_Missense_Mutation_p.D543H|RUNX1T1_uc010man.2_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D506H	p.D602H	NM_001198679	NP_001185608	WXS	Illumina GAIIx	Phase_I	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1991	-			543					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1804G>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233862	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.74;0.68;0.76;0.76;0.76;0.71;0.74	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.28776	0.89	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;0.999	T	0.59968	-0.7354	10	0.52906	T	0.07	-24.1858	20.1802	0.98196	0.0:1.0:0.0:0.0	.	554;506;543;516	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	543;516;543;506;506;506;554;516	ENSP00000428543:D543H;ENSP00000379520:D516H;ENSP00000265814:D543H;ENSP00000353504:D506H;ENSP00000390137:D506H;ENSP00000428742:D506H;ENSP00000402257:D554H;ENSP00000430728:D516H	ENSP00000265814:D543H	D	-	1	0	RUNX1T1	93041834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GAC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		5	51	0	0	0	1	0	5	51				
CCT2	10576	broad.mit.edu	37	12	69985902	69985902	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:69985902T>G	ENST00000299300.6	+	8	901	c.713T>G	c.(712-714)cTt>cGt	p.L238R	CCT2_ENST00000543146.2_Missense_Mutation_p.L191R|CCT2_ENST00000544368.2_Missense_Mutation_p.L238R	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	238					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTAAAATTCTTATTGCAAAT	0.299																																						uc001svb.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(712-714)cTt>cGt		Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.							66.0	75.0	72.0					12																	69985902		2202	4299	6501	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985902T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.713T>G	12.37:g.69985902T>G	ENSP00000299300:p.Leu238Arg		Somatic				CCT2_uc010stl.1_Missense_Mutation_p.L191R	p.L238R	NM_006431	NP_001185771	WXS	Illumina GAIIx	Phase_I	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	807	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		238					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.713T>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467887	0.84533	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.84146	-1.81;-1.81;-1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96926	0.9677	9	.	.	.	-38.207	15.7577	0.78046	0.0:0.0:0.0:1.0	.	238;238	F5GWF6;P78371	.;TCPB_HUMAN	R	238;238;191	ENSP00000299300:L238R;ENSP00000441847:L238R;ENSP00000445471:L191R	.	L	+	2	0	CCT2	68272169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.191000	0.70037	0.533000	0.62120	CTT		0.299	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		38	56	0	0	0	1	0	38	56				
CIT	11113	broad.mit.edu	37	12	120241044	120241044	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:120241044A>G	ENST00000261833.7	-	10	1313	c.1261T>C	c.(1261-1263)Tac>Cac	p.Y421H	CIT_ENST00000392521.2_Missense_Mutation_p.Y421H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	421	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTGCTGTACGAAAACCCC	0.488																																						uc001txj.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1261-1263)Tac>Cac		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							90.0	91.0	90.0					12																	120241044		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr12:120241044A>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1261T>C	12.37:g.120241044A>G	ENSP00000261833:p.Tyr421His		Somatic				CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.Y421H	p.Y421H	NM_001206999	NP_001193928	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	9	1317	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	421			AGC-kinase C-terminal.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1261T>C	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743478	0.30865	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.73897	-0.79;-0.79	5.43	5.43	0.79202	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.069169	0.56097	D	0.000022	T	0.69895	0.3162	L	0.52266	1.64	0.43499	D	0.995746	B;B	0.22983	0.013;0.078	B;B	0.23018	0.02;0.043	T	0.66284	-0.5962	10	0.36615	T	0.2	.	15.5086	0.75760	1.0:0.0:0.0:0.0	.	421;421	Q2M5E1;O14578	.;CTRO_HUMAN	H	421	ENSP00000376306:Y421H;ENSP00000261833:Y421H	ENSP00000261833:Y421H	Y	-	1	0	CIT	118725427	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.475000	0.90417	2.061000	0.61500	0.533000	0.62120	TAC		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		3	101	0	0	0	1	0	3	101				
TTN	7273	broad.mit.edu	37	2	179408637	179408637	+	Silent	SNP	G	G	A	rs376532382		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:179408637G>A	ENST00000591111.1	-	296	91535	c.91311C>T	c.(91309-91311)taC>taT	p.Y30437Y	TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y23205Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Y32078Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y23138Y|TTN_ENST00000460472.2_Silent_p.Y23013Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.Y29510Y|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30437	Ig-like 137.				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)			TTCCAGCATCGTACCGATTAA	0.413																																						uc021vsy.1																			0				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						c.(88528-88530)taC>taT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	0,3854		0,0,1927	174.0	159.0	164.0		69039,88530,69414,69615	-7.1	0.9	2		164	1,8279		0,1,4139	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6066	AA,AG,GG		0.0121,0.0,0.0082	,,,	23013/26927,29510/33424,23138/27052,23205/27119	179408637	1,12133	1927	4140	6067	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408637G>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.91311C>T	2.37:g.179408637G>A			Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y23205Y|TTN_uc021vta.1_Silent_p.Y23138Y|TTN_uc021vtb.1_Silent_p.Y23013Y	p.Y29510Y	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88755	-			30437			Fibronectin type-III 115.		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.88530C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	74	0	0	0	1	0	44	74				
GRID2	2895	broad.mit.edu	37	4	94693647	94693647	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:94693647T>C	ENST00000282020.4	+	16	3280	c.3022T>C	c.(3022-3024)Tga>Cga	p.*1008R	GRID2_ENST00000510992.1_Nonstop_Mutation_p.*913R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	0					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CACCTCCATATGAGCATCAAA	0.403																																						uc011cdt.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3022-3024)Tga>Cga		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						52.0	50.0	51.0					4																	94693647		2203	4300	6503	SO:0001578	stop_lost	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693647T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3022T>C	4.37:g.94693647T>C	ENSP00000282020:p.*1008Argext*29		Somatic				GRID2_uc011cdu.2_Nonstop_Mutation_p.*913R	p.*1008R	NM_001510	NP_001501	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	3280	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	0					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonstop_Mutation	SNP	ENST00000282020.4	37	c.3022T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004848	0.93287	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.23994	N	0.996237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.413	0.74943	0.0:0.0:0.0:1.0	.	.	.	.	R	1008;913	.	.	X	+	1	0	GRID2	94912670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.662000	0.83803	2.038000	0.60285	0.455000	0.32223	TGA		0.403	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			25	61	0	0	0	1	0	25	61				
ITGAL	3683	broad.mit.edu	37	16	30521697	30521697	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:30521697C>T	ENST00000356798.6	+	22	2704	c.2524C>T	c.(2524-2526)Cct>Tct	p.P842S	ITGAL_ENST00000358164.5_Missense_Mutation_p.P758S|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	842					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TAGCCAGATACCTGTGAGCTG	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2524-2526)Cct>Tct		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						140.0	129.0	133.0					16																	30521697		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521697C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2524C>T	16.37:g.30521697C>T	ENSP00000349252:p.Pro842Ser		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.P758S|ITGAL_uc010vev.2_Intron	p.P842S	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			21	2700	+			842					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2524C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	11.92	1.782555	0.31502	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.41400	1.0;1.0	4.45	4.45	0.53987	Integrin alpha-2 (1);	0.000000	0.41823	D	0.000816	T	0.62708	0.2450	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.78314	0.882;0.991	T	0.62020	-0.6942	10	0.34782	T	0.22	.	13.3782	0.60752	0.0:1.0:0.0:0.0	.	758;842	Q96HB1;P20701	.;ITAL_HUMAN	S	842;758	ENSP00000349252:P842S;ENSP00000350886:P758S	ENSP00000349252:P842S	P	+	1	0	ITGAL	30429198	0.984000	0.35163	0.944000	0.38274	0.168000	0.22595	3.442000	0.52900	2.443000	0.82685	0.187000	0.17357	CCT		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			78	134	0	0	0	1	0	78	134				
HTR2B	3357	broad.mit.edu	37	2	231973299	231973299	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:231973299G>C	ENST00000258400.3	-	4	1890	c.1378C>G	c.(1378-1380)Cta>Gta	p.L460V	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	460					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GTATCTAGTAGAATGATTGAT	0.393																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1378-1380)Cta>Gta		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						93.0	87.0	89.0					2																	231973299		2203	4300	6503	SO:0001583	missense	3357				ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr2:231973299G>C		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1378C>G	2.37:g.231973299G>C	ENSP00000258400:p.Leu460Val		Somatic				PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.L393V	p.L460V	NM_000867	NP_000858	WXS	Illumina GAIIx	Phase_I	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	3	1883	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	460					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1378C>G	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599835	0.28534	.	.	ENSG00000135914	ENST00000258400	T	0.60299	0.2	5.9	4.06	0.47325	.	0.202447	0.42964	D	0.000624	T	0.45657	0.1353	L	0.53249	1.67	0.39758	D	0.971984	P;P	0.42409	0.779;0.635	B;B	0.36766	0.232;0.14	T	0.41484	-0.9506	10	0.16896	T	0.51	.	9.3261	0.37993	0.2249:0.0:0.7751:0.0	.	275;460	B3VRC5;P41595	.;5HT2B_HUMAN	V	460	ENSP00000258400:L460V	ENSP00000258400:L460V	L	-	1	2	HTR2B	231681543	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.345000	0.19979	1.462000	0.47948	0.650000	0.86243	CTA		0.393	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		3	72	0	0	0	1	0	3	72				
ETF1	2107	broad.mit.edu	37	5	137844496	137844496	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:137844496C>G	ENST00000360541.5	-	10	1314	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	ETF1_ENST00000503014.1_Missense_Mutation_p.E351Q|ETF1_ENST00000499810.2_Missense_Mutation_p.E332Q	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	365					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTCATGTTCCTGTCCGGTC	0.433																																						uc003ldc.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1093-1095)Gaa>Caa		Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.							91.0	90.0	90.0					5																	137844496		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844496C>G	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1093G>C	5.37:g.137844496C>G	ENSP00000353741:p.Glu365Gln		Somatic				ETF1_uc011cyv.2_Missense_Mutation_p.E351Q|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.E332Q	p.E365Q	NM_004730	NP_004721	WXS	Illumina GAIIx	Phase_I	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1258	-			365					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.1093G>C	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620976	0.66787	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	5.31	0.75309	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.85945	2.785	0.80722	D	1	P;B	0.39282	0.666;0.162	P;B	0.51833	0.681;0.242	T	0.79855	-0.1627	9	0.37606	T	0.19	-16.4685	15.2063	0.73180	0.0:0.9326:0.0:0.0674	.	351;365	B7Z7P8;P62495	.;ERF1_HUMAN	Q	332;365;351	.	ENSP00000353741:E365Q	E	-	1	0	ETF1	137872395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	1.635000	0.50512	0.655000	0.94253	GAA		0.433	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		8	161	0	0	0	1	0	8	161				
MUC5B	727897	broad.mit.edu	37	11	1264048	1264048	+	Missense_Mutation	SNP	G	G	A	rs189444561		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:1264048G>A	ENST00000529681.1	+	31	5996	c.5938G>A	c.(5938-5940)Gtt>Att	p.V1980I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V1983I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1980	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			VTP -> FTA (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTACCAGCGTTACACCCAT	0.632																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5938-5940)Gtt>Att		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							226.0	284.0	264.0					11																	1264048		2182	4266	6448	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264048G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5938G>A	11.37:g.1264048G>A	ENSP00000436812:p.Val1980Ile		Somatic					p.V1980I	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	5997	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1980	VTP -> FTA (in Ref. 4; CAA96577).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5938G>A	CCDS44515.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	4.904	0.168075	0.09339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.56	1.36	0.248	0.15526	.	.	.	.	.	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.18;0.106	B;B	0.15052	0.012;0.008	T	0.30880	-0.9963	9	0.87932	D	0	.	1.8708	0.03208	0.1534:0.1853:0.4662:0.1952	.	2673;1983	A7Y9J9;E9PBJ0	.;.	I	1980;1983;1981;2050	ENSP00000436812:V1980I;ENSP00000415793:V1983I	ENSP00000343037:V1981I	V	+	1	0	MUC5B	1220624	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	1.280000	0.33202	-0.912000	0.03837	-1.142000	0.01873	GTT		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		79	117	0	0	0	1	0	79	117				
TOPBP1	11073	broad.mit.edu	37	3	133329896	133329896	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:133329896C>G	ENST00000260810.5	-	25	4256	c.4125G>C	c.(4123-4125)atG>atC	p.M1375I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTCTCCATCTCATTGCTGCAA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4123-4125)atG>atC	Other conserved DNA damage response genes	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.							222.0	217.0	219.0					3																	133329896		1881	4105	5986	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329896C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4125G>C	3.37:g.133329896C>G	ENSP00000260810:p.Met1375Ile		Somatic					p.M1375I	NM_007027	NP_008958	WXS	Illumina GAIIx	Phase_I	Q92547	TOPB1_HUMAN			24	4257	-			1375					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4125G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491816	0.64074	.	.	ENSG00000163781	ENST00000260810	T	0.12255	2.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.53249	1.67	0.80722	D	1	B	0.29115	0.233	B	0.20577	0.03	T	0.02313	-1.1178	10	0.35671	T	0.21	.	18.8928	0.92412	0.0:1.0:0.0:0.0	.	1375	Q92547	TOPB1_HUMAN	I	1375	ENSP00000260810:M1375I	ENSP00000260810:M1375I	M	-	3	0	TOPBP1	134812586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.939000	0.56591	2.466000	0.83321	0.591000	0.81541	ATG		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	167	0	0	0	1	0	8	167				
PPHLN1	51535	broad.mit.edu	37	12	42836501	42836501	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:42836501C>T	ENST00000395568.2	+	11	1167	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	PPHLN1_ENST00000337898.6_Silent_p.H306H|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Silent_p.H306H|PPHLN1_ENST00000256678.8_Silent_p.H241H	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	361					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		aaatggatcacgacggaaccc	0.552																																						uc001rng.1																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1081-1083)caC>caT		Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.							132.0	130.0	131.0					12																	42836501		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42836501C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1083C>T	12.37:g.42836501C>T			Somatic				PPHLN1_uc010skr.1_Silent_p.H306H|PPHLN1_uc010sks.1_Silent_p.H287H|PPHLN1_uc010skt.1_Silent_p.H241H|PPHLN1_uc001rni.1_Silent_p.H306H|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	p.H361H	NM_016488	NP_057572	WXS	Illumina GAIIx	Phase_I	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	10	1188	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	361					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.1083C>T	CCDS31777.1																																																																																				0.552	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		22	279	0	0	0	1	0	22	279				
HHIPL2	79802	broad.mit.edu	37	1	222717148	222717148	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:222717148G>A	ENST00000343410.6	-	2	763	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	235					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTACCTGCTCGGCAACAAAGA	0.622																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(703-705)gcC>gcT		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							72.0	65.0	68.0					1																	222717148		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717148G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.705C>T	1.37:g.222717148G>A			Somatic					p.A235A	NM_024746	NP_079022	WXS	Illumina GAIIx	Phase_I	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	763	-			235					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.705C>T	CCDS1530.2																																																																																				0.622	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		10	86	0	0	0	1	0	10	86				
PATL1	219988	broad.mit.edu	37	11	59421541	59421541	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:59421541G>C	ENST00000300146.9	-	9	1120	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	346	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATTGGGGCCTGAGATCTAAGA	0.428																																						uc001noe.4																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1036-1038)Cag>Gag		Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.							162.0	160.0	161.0					11																	59421541		1975	4155	6130	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding	g.chr11:59421541G>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1036C>G	11.37:g.59421541G>C	ENSP00000300146:p.Gln346Glu		Somatic				PATL1_uc009yms.1_Missense_Mutation_p.Q316E|PATL1_uc010rkw.2_Missense_Mutation_p.Q51E	p.Q346E	NM_152716	NP_689929	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			8	1179	-			346			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1036C>G	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341552	0.24339	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.46451	0.87	5.75	5.75	0.90469	.	0.129015	0.51477	D	0.000083	T	0.29945	0.0749	L	0.29908	0.895	0.40485	D	0.980483	B;B	0.19583	0.012;0.037	B;B	0.22386	0.015;0.039	T	0.11060	-1.0603	10	0.10636	T	0.68	-11.9401	12.86	0.57908	0.0753:0.0:0.9247:0.0	.	316;346	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	E	346;316	ENSP00000300146:Q346E	ENSP00000300146:Q346E	Q	-	1	0	PATL1	59178117	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.716000	0.92895	0.655000	0.94253	CAG		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		3	116	0	0	0	1	0	3	116				
WDR73	84942	broad.mit.edu	37	15	85189404	85189404	+	Intron	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:85189404T>C	ENST00000434634.2	-	6	578				WDR73_ENST00000398528.3_Intron	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73											cervix(1)|large_intestine(1)|lung(1)	3						AGGGACAAAGTACCACGGTAC	0.582																																						uc010upa.1																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(526-528)gtA>gtG		Homo sapiens WD repeat domain 73 (WDR73), mRNA.							29.0	31.0	30.0					15																	85189404		2018	4173	6191	SO:0001627	intron_variant	84942							g.chr15:85189404T>C	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.517+10A>G	15.37:g.85189404T>C			Somatic				WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkw.2_Intron|WDR73_uc002bkx.2_Intron|AL357213_uc002bky.1_3'UTR	p.V176V			WXS	Illumina GAIIx	Phase_I	Q6P4I2	WDR73_HUMAN			5	544	-			0					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.528A>G	CCDS45339.1																																																																																				0.582	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		7	20	0	0	0	1	0	7	20				
DBN1	1627	broad.mit.edu	37	5	176893800	176893800	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:176893800C>G	ENST00000309007.5	-	8	963	c.744G>C	c.(742-744)aaG>aaC	p.K248N	DBN1_ENST00000292385.5_Missense_Mutation_p.K250N|DBN1_ENST00000393565.1_Missense_Mutation_p.K248N	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	248					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAACCGCCTCTTGGCCTCTT	0.602																																						uc003mgx.2																			0		p.R250L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(748-750)aaG>aaC		Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.							177.0	188.0	184.0					5																	176893800		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893800C>G		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.744G>C	5.37:g.176893800C>G	ENSP00000308532:p.Lys248Asn		Somatic				DBN1_uc003mgy.2_Missense_Mutation_p.K248N|DBN1_uc010jkn.1_Missense_Mutation_p.K198N|DBN1_uc003mgz.1_Missense_Mutation_p.K185N	p.K250N	NM_080881	NP_543157	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1032	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	248					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.750G>C	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532320	0.64972	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41065	1.01;1.01;1.01	4.99	3.06	0.35304	.	0.106793	0.64402	D	0.000010	T	0.54549	0.1865	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.71414	0.973;0.94;0.922;0.964	T	0.52215	-0.8605	10	0.39692	T	0.17	-30.8346	9.6929	0.40139	0.0:0.759:0.0:0.241	.	198;248;248;250	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	N	248;250;248;247	ENSP00000308532:K248N;ENSP00000292385:K250N;ENSP00000377195:K248N	ENSP00000292385:K250N	K	-	3	2	DBN1	176826406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.665000	0.25083	1.328000	0.45358	0.655000	0.94253	AAG		0.602	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	260	0	0	0	1	0	4	260				
ADAMTS18	170692	broad.mit.edu	37	16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:77389861C>T	ENST00000282849.5	-	9	1854	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	479	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R479H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488																																						uc002ffc.4																			1	Substitution - Missense(1)	p.R479H(2)	ovary(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1435-1437)cGc>cAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							106.0	95.0	99.0					16																	77389861		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389861C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1436G>A	16.37:g.77389861C>T	ENSP00000282849:p.Arg479His		Somatic				ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.R479H	NM_199355	NP_955387	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			8	1855	-			479			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1436G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000140873	ENST00000282849	T	0.08720	3.06	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.36212	-0.9757	10	0.87932	D	0	.	13.4679	0.61266	0.0:0.9246:0.0:0.0754	.	479;479	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	479	ENSP00000282849:R479H	ENSP00000282849:R479H	R	-	2	0	ADAMTS18	75947362	1.000000	0.71417	0.910000	0.35882	0.335000	0.28730	5.859000	0.69539	1.561000	0.49584	0.655000	0.94253	CGC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			46	58	0	0	0	1	0	46	58				
SCAF4	57466	broad.mit.edu	37	21	33043813	33043813	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr21:33043813C>G	ENST00000286835.7	-	20	3725	c.3343G>C	c.(3343-3345)Gag>Cag	p.E1115Q	SCAF4_ENST00000399804.1_Missense_Mutation_p.E1093Q|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1100Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1115						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACTGCAGCCTCAGACACCCCC	0.517																																						uc002ypd.2																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3343-3345)Gag>Cag		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							117.0	109.0	112.0					21																	33043813		2203	4300	6503	SO:0001583	missense	57466					nucleus	RNA binding|nucleotide binding	g.chr21:33043813C>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3343G>C	21.37:g.33043813C>G	ENSP00000286835:p.Glu1115Gln		Somatic				SCAF4_uc002ype.2_Missense_Mutation_p.E1093Q|SCAF4_uc010glu.2_Missense_Mutation_p.E1100Q	p.E1115Q	NM_020706	NP_065757	WXS	Illumina GAIIx	Phase_I	O95104	SFR15_HUMAN			19	3769	-			1115					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3343G>C	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010574	0.19277	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.22134	1.97;1.97;1.97	5.09	3.95	0.45737	.	0.121046	0.35903	N	0.002914	T	0.18882	0.0453	N	0.24115	0.695	0.23809	N	0.996782	P;B;B	0.34546	0.456;0.023;0.013	B;B;B	0.43225	0.412;0.049;0.022	T	0.16512	-1.0400	10	0.30078	T	0.28	-3.7783	11.7068	0.51601	0.0:0.8887:0.0:0.1113	.	1100;1093;1115	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	Q	1100;1115;1093	ENSP00000402377:E1100Q;ENSP00000286835:E1115Q;ENSP00000382703:E1093Q	ENSP00000286835:E1115Q	E	-	1	0	SCAF4	31965684	0.469000	0.25846	0.271000	0.24616	0.474000	0.32979	0.792000	0.26929	1.132000	0.42129	0.655000	0.94253	GAG		0.517	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		7	100	0	0	0	1	0	7	100				
CACNA1E	777	broad.mit.edu	37	1	181731728	181731728	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:181731728T>C	ENST00000367573.2	+	33	4624	c.4624T>C	c.(4624-4626)Tgg>Cgg	p.W1542R	CACNA1E_ENST00000526775.1_Missense_Mutation_p.W1523R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.W1474R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.W1493R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.W1149R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.W1542R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.W1523R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1542					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGACACCTGGAATATCTT	0.363																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4624-4626)Tgg>Cgg		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							95.0	84.0	88.0					1																	181731728		1870	4107	5977	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181731728T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4624T>C	1.37:g.181731728T>C	ENSP00000356545:p.Trp1542Arg		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.W1542R|CACNA1E_uc009wxs.3_Missense_Mutation_p.W1523R|CACNA1E_uc001gox.1_Missense_Mutation_p.W768R	p.W1542R	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			32	4819	+			1542					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4624T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090197	0.76756	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.76	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.914	D	0.98252	1.0494	10	0.87932	D	0	.	12.8118	0.57643	0.0:0.0:0.1361:0.8639	.	1523;1542;1542	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1542;1523;1493;1474;1149;1523;1542	ENSP00000356542:W1542R;ENSP00000434814:W1523R;ENSP00000350183:W1493R;ENSP00000351101:W1474R;ENSP00000356539:W1149R;ENSP00000353222:W1523R;ENSP00000356545:W1542R	ENSP00000350183:W1493R	W	+	1	0	CACNA1E	179998351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.200000	0.70718	0.482000	0.46254	TGG		0.363	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	45	0	0	0	1	0	11	45				
ATR	545	broad.mit.edu	37	3	142268516	142268516	+	Splice_Site	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:142268516C>G	ENST00000350721.4	-	15	3098		c.e15-1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAATGTCCTCTGAAAAAGAA	0.343								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.e15-1	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							43.0	44.0	43.0					3																	142268516		2203	4299	6502	SO:0001630	splice_region_variant	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268516C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2977-1G>C	3.37:g.142268516C>G			Somatic					p.R993_splice	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			15	3099	-			993					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	c.2977_splice	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579462	0.86645	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7702	0.88489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143751206	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.317000	0.79018	2.635000	0.89317	0.655000	0.94253	.		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	3	49	0	0	0	1	0	3	49				
TK1	7083	broad.mit.edu	37	17	76170913	76170913	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:76170913T>G	ENST00000301634.7	-	7	870	c.632A>C	c.(631-633)aAg>aCg	p.K211T	TK1_ENST00000590862.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.K211T|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000588734.1_Missense_Mutation_p.K244T	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	211					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	TTCCCCTGGCTTTCCTGGCAC	0.632																																						uc002juw.2																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(631-633)aAg>aCg		Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.							43.0	41.0	42.0					17																	76170913		2203	4300	6503	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76170913T>G		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.632A>C	17.37:g.76170913T>G	ENSP00000301634:p.Lys211Thr		Somatic					p.K211T	NM_003258	NP_003249	WXS	Illumina GAIIx	Phase_I	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	842	-			211					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.632A>C	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	T	5.678	0.309615	0.10733	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.47	-0.134	0.13481	.	0.574682	0.19491	N	0.113000	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	B;B	0.27559	0.083;0.181	B;B	0.26416	0.022;0.069	T	0.17410	-1.0370	9	0.18710	T	0.47	-13.9362	6.0327	0.19688	0.0:0.3968:0.1407:0.4624	.	211;211	B5BU32;P04183	.;KITH_HUMAN	T	211	.	ENSP00000301634:K211T	K	-	2	0	TK1	73682508	0.484000	0.25964	0.016000	0.15963	0.030000	0.12068	0.294000	0.19047	-0.007000	0.14345	-0.290000	0.09829	AAG		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		8	11	0	0	0	1	0	8	11				
KIR3DL1	3811	broad.mit.edu	37	19	55286820	55286820	+	Intron	SNP	C	C	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:55286820C>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.H192N|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H192N|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGCCACCCACGGAGGGAC	0.567																																						uc010erz.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(574-576)Cac>Aac		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.							136.0	148.0	144.0					19																	55286820		2101	4166	6267	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286820C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42169C>A	19.37:g.55286820C>A			Somatic				KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H192N	p.H192N	NM_014218	NP_055033	WXS	Illumina GAIIx	Phase_I	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	612	+			192			Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.574C>A		.	.	.	.	.	.	.	.	.	.	C	11.24	1.579883	0.28180	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.21932	1.98;1.98	1.1	-0.0407	0.13871	.	.	.	.	.	T	0.40886	0.1135	M	0.88181	2.935	0.09310	N	1	P;P	0.48764	0.878;0.915	P;P	0.58331	0.802;0.837	T	0.24835	-1.0149	9	0.87932	D	0	.	3.4299	0.07425	0.0:0.7035:0.0:0.2965	.	192;192	Q6IST4;Q6H2H3	.;.	N	192	ENSP00000336769:H192N;ENSP00000291633:H192N	ENSP00000291633:H192N	H	+	1	0	KIR2DL1	59978632	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.264000	0.18497	0.045000	0.15804	0.184000	0.17185	CAC		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	148	0	0	0	1	0	8	148				
A2M	2	broad.mit.edu	37	12	9264798	9264798	+	Missense_Mutation	SNP	C	C	T	rs201769751		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:9264798C>T	ENST00000318602.7	-	4	747	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGACAACACGAAATTTCAC	0.393													C|||	3	0.000599042	0.0023	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(439-441)cGt>cAt		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)	C	HIS/ARG	3,3657		0,3,1827	67.0	66.0	66.0		440	5.4	1.0	12		66	0,8148		0,0,4074	yes	missense	A2M	NM_000014.4	29	0,3,5901	TT,TC,CC		0.0,0.082,0.0254	probably-damaging	147/1475	9264798	3,11805	1830	4074	5904	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9264798C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.440G>A	12.37:g.9264798C>T	ENSP00000323929:p.Arg147His		Somatic				A2M_uc009zgk.1_5'UTR	p.R147H	NM_000014	NP_000005	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			3	553	-			147					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.440G>A	CCDS44827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.1	4.371479	0.82573	8.2E-4	0.0	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.77229	-1.08;-1.08	5.43	5.43	0.79202	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	H	0.96996	3.92	0.46078	D	0.998853	D	0.89917	1.0	D	0.81914	0.995	D	0.94107	0.7367	10	0.87932	D	0	.	14.7525	0.69536	0.0:1.0:0.0:0.0	.	147	P01023	A2MG_HUMAN	H	147;162;147	ENSP00000323929:R147H;ENSP00000385710:R147H	ENSP00000323929:R147H	R	-	2	0	A2M	9156065	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	3.028000	0.49705	2.540000	0.85666	0.650000	0.86243	CGT		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	35	0	0	0	1	0	13	35				
KIF2C	11004	broad.mit.edu	37	1	45218863	45218863	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218863G>A	ENST00000372224.4	+	6	612	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KIF2C_ENST00000372217.1_Missense_Mutation_p.E113K|KIF2C_ENST00000372222.3_Missense_Mutation_p.E54K|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	167	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATGGTCAGCGAGGAGATGGA	0.532																																						uc001cmg.4																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(499-501)Gag>Aag		Homo sapiens kinesin family member 2C (KIF2C), mRNA.							181.0	152.0	162.0					1																	45218863		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218863G>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.499G>A	1.37:g.45218863G>A	ENSP00000361298:p.Glu167Lys		Somatic				KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.E54K|KIF2C_uc001cmh.4_Missense_Mutation_p.E113K	p.E167K	NM_006845	NP_006836	WXS	Illumina GAIIx	Phase_I	Q99661	KIF2C_HUMAN			5	614	+	Acute lymphoblastic leukemia(166;0.155)		167			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.499G>A	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218800	0.39201	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.74632	-0.82;1.01;-0.86;-0.85	5.26	3.41	0.39046	.	0.687289	0.13786	N	0.362853	T	0.52092	0.1713	N	0.14661	0.345	0.36991	D	0.894765	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.42447	-0.9451	10	0.08837	T	0.75	.	7.7959	0.29148	0.1853:0.0:0.8147:0.0	.	113;167	Q99661-2;Q99661	.;KIF2C_HUMAN	K	167;158;54;113	ENSP00000361298:E167K;ENSP00000395050:E158K;ENSP00000361296:E54K;ENSP00000361291:E113K	ENSP00000361291:E113K	E	+	1	0	KIF2C	44991450	0.997000	0.39634	1.000000	0.80357	0.805000	0.45488	1.050000	0.30404	0.818000	0.34468	0.561000	0.74099	GAG		0.532	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		4	130	0	0	0	1	0	4	130				
ASRGL1	80150	broad.mit.edu	37	11	62123836	62123836	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:62123836T>C	ENST00000415229.2	+	3	445	c.230T>C	c.(229-231)aTg>aCg	p.M77T	ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Missense_Mutation_p.M77T	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	77					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GAGGTTGAAATGGATGCTAGT	0.453																																						uc001nte.4																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(229-231)aTg>aCg		Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						208.0	192.0	198.0					11																	62123836		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123836T>C		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.230T>C	11.37:g.62123836T>C	ENSP00000400057:p.Met77Thr		Somatic				ASRGL1_uc001ntf.4_Missense_Mutation_p.M77T|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	p.M77T	NM_025080	NP_079356	WXS	Illumina GAIIx	Phase_I	Q7L266	ASGL1_HUMAN			2	514	+			77					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.230T>C	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.289149	0.80914	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.89343	-2.5;-2.5	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	M	0.84585	2.705	0.80722	D	1	B	0.32467	0.372	P	0.51742	0.678	D	0.94314	0.7548	10	0.87932	D	0	-37.1564	14.108	0.65104	0.0:0.0:0.0:1.0	.	77	Q7L266	ASGL1_HUMAN	T	77	ENSP00000400057:M77T;ENSP00000301776:M77T	ENSP00000301776:M77T	M	+	2	0	ASRGL1	61880412	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.330000	0.72925	2.210000	0.71456	0.528000	0.53228	ATG		0.453	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		64	95	0	0	0	1	0	64	95				
CAMKV	79012	broad.mit.edu	37	3	49899480	49899480	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:49899480C>T	ENST00000477224.1	-	3	703	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000463537.1_Silent_p.K75K|CAMKV_ENST00000466940.1_Silent_p.K75K|CAMKV_ENST00000488336.1_Silent_p.K75K|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000296471.7_Silent_p.K75K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAACTCACATCTTGAGGATGC	0.597																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(223-225)aaG>aaA		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							61.0	65.0	64.0					3																	49899480		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899480C>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.225G>A	3.37:g.49899480C>T			Somatic				CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.K75K|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.K75K|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Silent_p.K75K|CAMKV_uc011bdb.1_Non-coding_Transcript	p.K75K	NM_024046	NP_076951	WXS	Illumina GAIIx	Phase_I	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	418	-			75			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	c.225G>A	CCDS33762.1																																																																																				0.597	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		4	48	0	0	0	1	0	4	48				
CSF3R	1441	broad.mit.edu	37	1	36937076	36937076	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:36937076C>T	ENST00000373106.1	-	10	1790	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	CSF3R_ENST00000361632.4_Missense_Mutation_p.G415R|CSF3R_ENST00000373103.1_Missense_Mutation_p.G415R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.G415R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G415R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G415R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G415R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G415R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	415	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGAGAGGTCCCGGCTGAGTTA	0.592																																						uc001cax.2																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1243-1245)Ggg>Agg		Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						101.0	109.0	106.0					1																	36937076		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937076C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1243G>A	1.37:g.36937076C>T	ENSP00000362198:p.Gly415Arg		Somatic				CSF3R_uc001cav.2_Missense_Mutation_p.G415R|CSF3R_uc001caw.2_Missense_Mutation_p.G415R	p.G415R	NM_156039	NP_724781	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			9	1827	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	415			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1243G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345319	0.61073	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.3	4.36	0.52297	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.130398	0.27811	N	0.017752	T	0.69744	0.3145	M	0.84585	2.705	0.45378	D	0.998369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.73965	-0.3816	10	0.87932	D	0	-13.8365	11.1808	0.48627	0.1837:0.8163:0.0:0.0	.	415;415;415;415	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	R	415	ENSP00000362198:G415R;ENSP00000362196:G415R;ENSP00000362195:G415R;ENSP00000355406:G415R;ENSP00000332180:G415R;ENSP00000401588:G415R;ENSP00000345013:G415R;ENSP00000397568:G415R	ENSP00000332180:G415R	G	-	1	0	CSF3R	36709663	0.987000	0.35691	0.830000	0.32933	0.616000	0.37450	2.893000	0.48633	1.188000	0.43014	0.561000	0.74099	GGG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		139	180	0	0	0	1	0	139	180				
KIF2C	11004	broad.mit.edu	37	1	45218850	45218850	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218850G>C	ENST00000372224.4	+	6	599	c.486G>C	c.(484-486)ttG>ttC	p.L162F	KIF2C_ENST00000372217.1_Missense_Mutation_p.L108F|KIF2C_ENST00000372222.3_Missense_Mutation_p.L49F|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547																																						uc001cmg.4																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(484-486)ttG>ttC		Homo sapiens kinesin family member 2C (KIF2C), mRNA.							167.0	143.0	151.0					1																	45218850		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218850G>C	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.486G>C	1.37:g.45218850G>C	ENSP00000361298:p.Leu162Phe		Somatic				KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.L49F|KIF2C_uc001cmh.4_Missense_Mutation_p.L108F	p.L162F	NM_006845	NP_006836	WXS	Illumina GAIIx	Phase_I	Q99661	KIF2C_HUMAN			5	601	+	Acute lymphoblastic leukemia(166;0.155)		162			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.486G>C	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	8.684	0.905712	0.17760	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.75367	-0.93;0.82;-0.91;-0.93	5.26	4.34	0.51931	.	0.743599	0.12513	N	0.462294	T	0.62221	0.2410	N	0.22421	0.69	0.30198	N	0.798913	B;B	0.11235	0.003;0.004	B;B	0.13407	0.009;0.005	T	0.60182	-0.7313	10	0.51188	T	0.08	.	11.0786	0.48047	0.0:0.0:0.8153:0.1847	.	108;162	Q99661-2;Q99661	.;KIF2C_HUMAN	F	162;153;49;108	ENSP00000361298:L162F;ENSP00000395050:L153F;ENSP00000361296:L49F;ENSP00000361291:L108F	ENSP00000361291:L108F	L	+	3	2	KIF2C	44991437	0.996000	0.38824	0.998000	0.56505	0.713000	0.41058	2.990000	0.49401	1.430000	0.47334	0.561000	0.74099	TTG		0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		3	135	0	0	0	1	0	3	135				
OR4N3P	390539	broad.mit.edu	37	15	22414354	22414354	+	IGR	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:22414354T>C								RP11-69H14.6 (30546 upstream) : RP11-2F9.4 (19535 downstream)																							AAAGCTTCCATGAAAAAGGTG	0.343																																						uc001yuf.3																			0											c.(652-654)aTg>aCg		Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																																				SO:0001628	intergenic_variant	390539							g.chr15:22414354T>C																													15.37:g.22414354T>C			Somatic				abParts_uc001yuj.2_Intron	p.M218T			WXS	Illumina GAIIx	Phase_I					0	893	+									Missense_Mutation	SNP		37	c.653T>C																																																																																				0	0.343									6	43	0	0	0	1	0	6	43				
ESPL1	9700	broad.mit.edu	37	12	53680377	53680377	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:53680377A>T	ENST00000257934.4	+	18	3948	c.3857A>T	c.(3856-3858)cAa>cTa	p.Q1286L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q1286L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1286					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTACTACCCAACTTTTTGCA	0.552																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3856-3858)cAa>cTa		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							55.0	59.0	58.0					12																	53680377		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680377A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3857A>T	12.37:g.53680377A>T	ENSP00000257934:p.Gln1286Leu		Somatic				ESPL1_uc001scj.2_Missense_Mutation_p.Q961L|ESPL1_uc010soe.1_Intron	p.Q1286L	NM_012291	NP_036423	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			17	3948	+			1286						Missense_Mutation	SNP	ENST00000257934.4	37	c.3857A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.920966	0.17982	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12879	2.64;2.64	4.96	3.81	0.43845	.	0.311935	0.34777	N	0.003693	T	0.12987	0.0315	L	0.57536	1.79	0.19300	N	0.999971	P	0.40000	0.698	B	0.35353	0.201	T	0.18461	-1.0336	10	0.72032	D	0.01	.	7.7043	0.28640	0.9049:0.0:0.0951:0.0	.	1286	Q14674	ESPL1_HUMAN	L	1286;961;1286	ENSP00000257934:Q1286L;ENSP00000449831:Q1286L	ENSP00000257934:Q1286L	Q	+	2	0	ESPL1	51966644	0.175000	0.23083	0.513000	0.27749	0.022000	0.10575	1.298000	0.33412	1.021000	0.39600	0.459000	0.35465	CAA		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	124	0	0	0	1	0	7	124				
ADAMTSL4	54507	broad.mit.edu	37	1	150531845	150531845	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:150531845C>A	ENST00000369038.2	+	15	3047	c.2846C>A	c.(2845-2847)tCt>tAt	p.S949Y	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S972Y|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S949Y|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	949	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AACGTGACTTCTCCGAGCAAC	0.612											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wlw.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2914-2916)tCt>tAt		Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.							125.0	93.0	104.0					1																	150531845		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531845C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2846C>A	1.37:g.150531845C>A	ENSP00000358034:p.Ser949Tyr		Somatic	OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_uc001eux.3_Missense_Mutation_p.S949Y|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S910Y|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.S112Y	p.S972Y	NM_019032	NP_061905	WXS	Illumina GAIIx	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		16	3073	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		949			TSP type-1 6.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2915C>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418645	0.42918	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.61980	0.06;0.06;0.06	5.52	4.59	0.56863	.	.	.	.	.	T	0.54175	0.1842	L	0.38838	1.175	0.09310	N	1	D;D;D	0.67145	0.996;0.98;0.991	D;P;P	0.63381	0.914;0.844;0.837	T	0.48896	-0.8994	9	0.59425	D	0.04	.	7.6566	0.28379	0.1609:0.7536:0.0:0.0855	.	910;972;949	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	Y	949;972;949	ENSP00000271643:S949Y;ENSP00000358035:S972Y;ENSP00000358034:S949Y	ENSP00000271643:S949Y	S	+	2	0	ADAMTSL4	148798469	0.006000	0.16342	0.976000	0.42696	0.269000	0.26545	2.049000	0.41288	2.584000	0.87258	0.462000	0.41574	TCT		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		75	95	0	0	0	1	0	75	95				
BNC1	646	broad.mit.edu	37	15	83932102	83932102	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:83932102C>T	ENST00000345382.2	-	4	1986	c.1901G>A	c.(1900-1902)aGg>aAg	p.R634K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R627K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	634					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCAGTCTCCCTCTCTGAATT	0.552																																						uc002bjt.1																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(1900-1902)aGg>aAg		Homo sapiens basonuclin 1 (BNC1), mRNA.							135.0	134.0	134.0					15																	83932102		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932102C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1901G>A	15.37:g.83932102C>T	ENSP00000307041:p.Arg634Lys		Somatic				BNC1_uc010uos.1_Missense_Mutation_p.R622K	p.R634K	NM_001717	NP_001708	WXS	Illumina GAIIx	Phase_I	Q01954	BNC1_HUMAN			3	1989	-			634					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1901G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035135	0.19590	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.39787	1.06	4.79	2.68	0.31781	.	0.400124	0.29253	N	0.012689	T	0.26846	0.0657	L	0.36672	1.1	0.25825	N	0.984235	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11891	-1.0569	10	0.18710	T	0.47	-10.6543	6.2829	0.21017	0.0:0.5882:0.0:0.4118	.	627;634	F5GY04;Q01954	.;BNC1_HUMAN	K	634;627	ENSP00000307041:R634K	ENSP00000307041:R634K	R	-	2	0	BNC1	81723106	1.000000	0.71417	0.977000	0.42913	0.454000	0.32378	1.536000	0.36072	1.126000	0.42016	0.655000	0.94253	AGG		0.552	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	175	0	0	0	1	0	5	175				
ADAMTSL3	57188	broad.mit.edu	37	15	84582013	84582013	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:84582013G>A	ENST00000286744.5	+	16	2094	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A624T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	624	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCTGGAAGCATGTGATGA	0.617																																						uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1870-1872)Gca>Aca		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.							58.0	51.0	53.0					15																	84582013		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582013G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1870G>A	15.37:g.84582013G>A	ENSP00000286744:p.Ala624Thr		Somatic				ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A624T	p.A624T	NM_207517	NP_997400	WXS	Illumina GAIIx	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	2094	+			624			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1870G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364191	0.41902	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	4.9	1.8	0.24995	.	0.365165	0.26010	N	0.026882	T	0.51363	0.1670	L	0.41961	1.31	0.28396	N	0.918866	B;P	0.40000	0.426;0.698	B;B	0.40825	0.287;0.341	T	0.53767	-0.8392	10	0.72032	D	0.01	.	14.1213	0.65189	0.0:0.6247:0.2727:0.1026	.	624;624	P82987-2;P82987	.;ATL3_HUMAN	T	624	ENSP00000286744:A624T	ENSP00000286744:A624T	A	+	1	0	ADAMTSL3	82373017	0.021000	0.18746	0.008000	0.14137	0.284000	0.27059	1.005000	0.29834	0.447000	0.26695	0.563000	0.77884	GCA		0.617	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		25	32	0	0	0	1	0	25	32				
PRKDC	5591	broad.mit.edu	37	8	48772221	48772221	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:48772221G>C	ENST00000314191.2	-	47	6211	c.6155C>G	c.(6154-6156)tCa>tGa	p.S2052*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S2052*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2053					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S2052*(1)|p.S2053*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAGCTGTATGAATAGCTCTG	0.438								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			2	Substitution - Nonsense(2)	p.S2052*(1)|p.S2053*(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6154-6156)tCa>tGa	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							122.0	120.0	121.0					8																	48772221		1889	4125	6014	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772221G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6155C>G	8.37:g.48772221G>C	ENSP00000313420:p.Ser2052*		Somatic				PRKDC_uc003xqj.3_Nonsense_Mutation_p.S2052*	p.S2052*	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			46	6212	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2053					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.6155C>G		.	.	.	.	.	.	.	.	.	.	G	48	13.995747	0.99774	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2052	.	ENSP00000313420:S2052X	S	-	2	0	PRKDC	48934774	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.459000	0.80802	2.786000	0.95864	0.561000	0.74099	TCA		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	206	0	0	0	1	0	6	206				
ANK2	287	broad.mit.edu	37	4	114263046	114263046	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:114263046G>A	ENST00000357077.4	+	33	4149	c.4096G>A	c.(4096-4098)Gag>Aag	p.E1366K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1357K|ANK2_ENST00000510275.2_Missense_Mutation_p.E18K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1366K|ANK2_ENST00000509550.1_Missense_Mutation_p.E542K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1333K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1366	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATTTTGCTGAGGTGGCCAG	0.373																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4096-4098)Gag>Aag		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							86.0	83.0	84.0					4																	114263046		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114263046G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4096G>A	4.37:g.114263046G>A	ENSP00000349588:p.Glu1366Lys		Somatic				ANK2_uc003ibd.4_Missense_Mutation_p.E1357K|ANK2_uc003ibf.4_Missense_Mutation_p.E1366K|ANK2_uc011cgc.2_Missense_Mutation_p.E542K|ANK2_uc003ibg.4_Missense_Mutation_p.E361K|ANK2_uc003ibh.4_Missense_Mutation_p.E40K|ANK2_uc011cgb.1_Missense_Mutation_p.E1381K	p.E1366K	NM_001148	NP_001139	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	32	4196	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1333					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4096G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648443	0.96714	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000084	T	0.63920	0.2552	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.999;0.997;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.97;0.993;0.979;0.993;0.971;0.999;0.997	T	0.69881	-0.5025	10	0.87932	D	0	.	19.4923	0.95056	0.0:0.0:1.0:0.0	.	542;1333;412;378;1366;1366;1357	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;ANK2_HUMAN;.;.;.;.;.	K	1279;1357;412;1381;1366;1366;1333;1357;542;18	ENSP00000421011:E1279K;ENSP00000421067:E1357K;ENSP00000424722:E1381K;ENSP00000378044:E1366K;ENSP00000349588:E1366K;ENSP00000264366:E1333K;ENSP00000426944:E542K;ENSP00000421023:E18K	ENSP00000264366:E1333K	E	+	1	0	ANK2	114482495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.607000	0.88179	0.650000	0.86243	GAG		0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	102	0	0	0	1	0	12	102				
KIAA0922	23240	broad.mit.edu	37	4	154533507	154533507	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:154533507T>C	ENST00000409663.3	+	26	3571	c.3519T>C	c.(3517-3519)tcT>tcC	p.S1173S	KIAA0922_ENST00000409959.3_Silent_p.S1174S|KIAA0922_ENST00000440693.1_Silent_p.S1090S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1173						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACAAAACATCTAGAGAAGACA	0.343																																						uc010ipp.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3520-3522)tcT>tcC		Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.							72.0	73.0	73.0					4																	154533507		2203	4299	6502	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154533507T>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3519T>C	4.37:g.154533507T>C			Somatic				KIAA0922_uc003inm.4_Silent_p.S1173S|KIAA0922_uc010ipq.3_Silent_p.S942S	p.S1174S	NM_001131007	NP_001124479	WXS	Illumina GAIIx	Phase_I	A2VDJ0	T131L_HUMAN			25	3574	+	all_hematologic(180;0.093)	Renal(120;0.118)	1173					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.3522T>C	CCDS3783.2																																																																																				0.343	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		35	38	0	0	0	1	0	35	38				
ELF3	1999	broad.mit.edu	37	1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:201981484C>T	ENST00000359651.3	+	3	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582																																						uc001gxg.4																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(397-399)tCt>tTt		Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.							70.0	76.0	74.0					1																	201981484		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981484C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.398C>T	1.37:g.201981484C>T	ENSP00000352673:p.Ser133Phe		Somatic				ELF3_uc001gxi.4_Missense_Mutation_p.S133F|ELF3_uc001gxh.4_Missense_Mutation_p.S133F	p.S133F	NM_004433	NP_004424	WXS	Illumina GAIIx	Phase_I	P78545	ELF3_HUMAN			2	3590	+			133						Missense_Mutation	SNP	ENST00000359651.3	37	c.398C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356067	0.61293	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.52526	2.38;2.38;2.38;0.66	5.4	4.48	0.54585	Sterile alpha motif/pointed domain (1);	5.936500	0.00508	N	0.000165	T	0.59211	0.2177	L	0.50333	1.59	0.22305	N	0.999218	D	0.57257	0.979	P	0.53722	0.733	T	0.49818	-0.8899	10	0.15952	T	0.53	.	13.8186	0.63308	0.1533:0.8467:0.0:0.0	.	133	P78545	ELF3_HUMAN	F	133;133;133;133;131	ENSP00000352673:S133F;ENSP00000356253:S133F;ENSP00000356252:S133F;ENSP00000405162:S131F	ENSP00000311348:S133F	S	+	2	0	ELF3	200248107	0.010000	0.17322	0.021000	0.16686	0.139000	0.21198	1.510000	0.35790	1.262000	0.44165	-0.188000	0.12872	TCT		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		4	112	0	0	0	1	0	4	112				
EPS15L1	58513	broad.mit.edu	37	19	16548625	16548625	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:16548625C>T	ENST00000248070.6	-	5	404	c.265G>A	c.(265-267)Gtt>Att	p.V89I	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000602009.1_5'Flank	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	89	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCAAGGTAACTTCATGGCCA	0.468																																						uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(265-267)Gtt>Att		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							123.0	104.0	111.0					19																	16548625		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16548625C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.265G>A	19.37:g.16548625C>T	ENSP00000248070:p.Val89Ile		Somatic				EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Missense_Mutation_p.V89I|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.V89I|EPS15L1_uc010eah.1_Missense_Mutation_p.V89I|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.V89I	p.V89I	NM_021235	NP_067058	WXS	Illumina GAIIx	Phase_I	Q9UBC2	EP15R_HUMAN			4	271	-			89			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.265G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246378	0.39697	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.31510	1.9;1.91;1.49	5.02	3.98	0.46160	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.064527	0.64402	D	0.000007	T	0.20861	0.0502	N	0.16602	0.42	0.47819	D	0.999528	B;B;B;B;B	0.22541	0.005;0.071;0.053;0.005;0.004	B;B;B;B;B	0.29785	0.044;0.107;0.083;0.023;0.008	T	0.04723	-1.0931	10	0.23302	T	0.38	.	12.8143	0.57657	0.0:0.9206:0.0:0.0794	.	89;89;89;89;89	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	I	89	ENSP00000393313:V89I;ENSP00000248070:V89I;ENSP00000440103:V89I	ENSP00000248070:V89I	V	-	1	0	EPS15L1	16409625	0.860000	0.29831	0.771000	0.31576	0.901000	0.52897	1.607000	0.36836	1.120000	0.41904	0.561000	0.74099	GTT		0.468	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	53	0	0	0	1	0	7	53				
OR51V1	283111	broad.mit.edu	37	11	5221748	5221748	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:5221748C>G	ENST00000321255.1	-	1	182	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	61					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTTGGCTCAGTCCATA	0.537																																						uc010qyz.2																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(181-183)gaG>gaC		Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.							122.0	104.0	110.0					11																	5221748		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221748C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.183G>C	11.37:g.5221748C>G	ENSP00000321729:p.Glu61Asp		Somatic					p.E61D	NM_001004760	NP_001004760	WXS	Illumina GAIIx	Phase_I	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	183	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	61						Missense_Mutation	SNP	ENST00000321255.1	37	c.183G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383542	0.11524	.	.	ENSG00000176742	ENST00000321255	T	0.02140	4.43	5.48	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000484	T	0.03739	0.0106	N	0.25380	0.74	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.48779	-0.9005	10	0.19147	T	0.46	.	1.7292	0.02928	0.1675:0.4888:0.1612:0.1825	.	61	Q9H2C8	O51V1_HUMAN	D	61	ENSP00000321729:E61D	ENSP00000321729:E61D	E	-	3	2	OR51V1	5178324	0.000000	0.05858	0.938000	0.37757	0.278000	0.26855	-0.414000	0.07114	1.551000	0.49450	0.650000	0.86243	GAG		0.537	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		13	72	0	0	0	1	0	13	72				
CHAT	1103	broad.mit.edu	37	10	50824648	50824648	+	Splice_Site	SNP	T	T	G	rs143723043		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr10:50824648T>G	ENST00000337653.2	+	2	540	c.387T>G	c.(385-387)tcT>tcG	p.S129S	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Splice_Site_p.S11S|CHAT_ENST00000395559.2_Splice_Site_p.S11S|CHAT_ENST00000351556.3_Splice_Site_p.S11S|CHAT_ENST00000455728.2_Splice_Site_p.S11S|CHAT_ENST00000395562.2_Splice_Site_p.S47S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	129					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GTGAGGAGTCTGTGAGTGACT	0.567																																						uc001jhz.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.e2+1		Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	Choline(DB00122)						113.0	86.0	95.0					10																	50824648		2203	4300	6503	SO:0001630	splice_region_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50824648T>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.387+1T>G	10.37:g.50824648T>G			Somatic				CHAT_uc001jhv.1_Splice_Site_p.S11_splice|CHAT_uc001jhx.1_Splice_Site_p.S11_splice|CHAT_uc001jhy.1_Splice_Site_p.S11_splice|CHAT_uc001jia.2_Splice_Site_p.S47_splice|CHAT_uc010qgs.1_Splice_Site_p.S11_splice	p.S129_splice	NM_020549	NP_066266	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	2	540	+		all_neural(218;0.107)	129					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Splice_Site	SNP	ENST00000337653.2	37	c.387_splice	CCDS7232.1																																																																																				0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	Silent	17	14	0	0	0	1	0	17	14				
AMOTL2	51421	broad.mit.edu	37	3	134089564	134089564	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:134089564G>A	ENST00000422605.2	-	2	878	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	AMOTL2_ENST00000249883.5_Missense_Mutation_p.H238Y|AMOTL2_ENST00000514516.1_Missense_Mutation_p.H296Y|AMOTL2_ENST00000513145.1_Missense_Mutation_p.H238Y|AMOTL2_ENST00000511759.1_Intron			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	238					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGGAAGTGCGGGCTGCCG	0.587																																						uc003eqf.2																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(886-888)Cac>Tac		Homo sapiens angiomotin like 2 (AMOTL2), mRNA.							50.0	43.0	45.0					3																	134089564		2199	4297	6496	SO:0001583	missense	51421							g.chr3:134089564G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.712C>T	3.37:g.134089564G>A	ENSP00000409999:p.His238Tyr		Somatic				AMOTL2_uc003eqg.1_Missense_Mutation_p.H238Y|AMOTL2_uc003eqh.1_Missense_Mutation_p.H238Y	p.H296Y	NM_016201	NP_057285	WXS	Illumina GAIIx	Phase_I	Q9Y2J4	AMOL2_HUMAN			1	1003	-			238					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	13.31	2.199017	0.38806	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.69	2.69	0.31865	.	0.744361	0.13009	N	0.421055	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.16689	-1.0394	10	0.42905	T	0.14	-26.6143	5.4618	0.16622	0.2131:0.3074:0.4795:0.0	.	238;238;296	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	Y	238;238;296;238	ENSP00000249883:H238Y;ENSP00000409999:H238Y;ENSP00000424765:H296Y;ENSP00000425475:H238Y	ENSP00000249883:H238Y	H	-	1	0	AMOTL2	135572254	0.981000	0.34729	0.597000	0.28824	0.622000	0.37654	2.767000	0.47637	1.082000	0.41137	0.455000	0.32223	CAC		0.587	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	85	0	0	0	1	0	6	85				
NES	10763	broad.mit.edu	37	1	156641203	156641203	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:156641203C>T	ENST00000368223.3	-	4	2909	c.2777G>A	c.(2776-2778)gGa>gAa	p.G926E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	926	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGTACTCTCCCTTTCCCAG	0.527																																						uc001fpq.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2776-2778)gGa>gAa		Homo sapiens nestin (NES), mRNA.							137.0	151.0	146.0					1																	156641203		2203	4300	6503	SO:0001583	missense	10763				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641203C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2777G>A	1.37:g.156641203C>T	ENSP00000357206:p.Gly926Glu		Somatic				NES_uc021pbh.1_5'Flank	p.G926E	NM_006617	NP_006608	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			3	2910	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		926			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2777G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897930	0.17686	.	.	ENSG00000132688	ENST00000368223	D	0.83163	-1.69	5.25	-10.1	0.00402	.	.	.	.	.	T	0.36386	0.0965	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16897	-1.0387	9	0.17832	T	0.49	.	5.0833	0.14668	0.0855:0.1734:0.1709:0.5702	.	926	P48681	NEST_HUMAN	E	926	ENSP00000357206:G926E	ENSP00000357206:G926E	G	-	2	0	NES	154907827	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.488000	0.00977	-2.110000	0.00837	-0.253000	0.11424	GGA		0.527	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	246	0	0	0	1	0	6	246				
OR1N2	138882	broad.mit.edu	37	9	125315950	125315950	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr9:125315950C>G	ENST00000373688.2	+	1	560	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGCTGGGTGCTAACCAACTG	0.532																																						uc011lyx.2																			0		p.L168P(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(502-504)Cta>Gta		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							140.0	122.0	128.0					9																	125315950		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315950C>G		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.502C>G	9.37:g.125315950C>G	ENSP00000362792:p.Leu168Val		Somatic					p.L168V	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	502	+			168					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.502C>G	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959276	0.18507	.	.	ENSG00000171501	ENST00000373688	T	0.39229	1.09	4.41	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.200788	0.24251	N	0.040175	T	0.30355	0.0762	N	0.25485	0.75	0.09310	N	1	B	0.28760	0.221	B	0.37550	0.253	T	0.20806	-1.0264	10	0.37606	T	0.19	.	6.0188	0.19618	0.0:0.6034:0.0:0.3965	.	168	Q8NGR9	OR1N2_HUMAN	V	168	ENSP00000362792:L168V	ENSP00000362792:L168V	L	+	1	2	OR1N2	124355771	0.001000	0.12720	0.857000	0.33713	0.975000	0.68041	-0.074000	0.11450	0.509000	0.28195	0.644000	0.83932	CTA		0.532	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			17	184	0	0	0	1	0	17	184				
ARHGAP6	395	broad.mit.edu	37	X	11200233	11200233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:11200233G>A	ENST00000337414.4	-	6	2151	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.Q252*|ARHGAP6_ENST00000491514.1_5'Flank|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.Q459*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.Q427*|ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.Q236*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.Q224*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCACTGTCTGGAGGCCTGCA	0.398																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1279-1281)Cag>Tag		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							159.0	152.0	155.0					X																	11200233		2203	4300	6503	SO:0001587	stop_gained	395				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	g.chrX:11200233G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1279C>T	X.37:g.11200233G>A	ENSP00000338967:p.Gln427*		Somatic				ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.Q427*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.Q224*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.Q247*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.Q249*|ARHGAP6_uc011mif.1_Nonsense_Mutation_p.Q224*	p.Q427*	NM_013427	NP_038286	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			5	2152	-			427			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Nonsense_Mutation	SNP	ENST00000337414.4	37	c.1279C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	48	14.538669	0.99800	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	.	.	.	5.66	5.66	0.87406	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	.	.	.	X	252;224;224;427;263;427;236;459	.	ENSP00000302312:Q224X	Q	-	1	0	ARHGAP6	11110154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.027000	0.93706	2.385000	0.81259	0.600000	0.82982	CAG		0.398	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		6	165	0	0	0	1	0	6	165				
C17orf74	201243	broad.mit.edu	37	17	7330441	7330441	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:7330441C>T	ENST00000333870.3	+	3	1205	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	377						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCTCCCAGGACCCCCGTGAGG	0.682																																						uc002ggw.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1129-1131)gaC>gaT		Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.							27.0	35.0	32.0					17																	7330441		2102	4209	6311	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330441C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1131C>T	17.37:g.7330441C>T			Somatic				SPEM1_uc010vtw.1_Intron	p.D377D	NM_175734	NP_783861	WXS	Illumina GAIIx	Phase_I	Q0P670	CQ074_HUMAN			2	1204	+		Prostate(122;0.157)	377						Silent	SNP	ENST00000333870.3	37	c.1131C>T	CCDS42255.1																																																																																				0.682	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		10	27	0	0	0	1	0	10	27				
MDC1	9656	broad.mit.edu	37	6	30681830	30681830	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.L89L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes																														uc003nrg.4																			0		p.I88F(1)		breast(2)|kidney(1)|ovary(1)	4						c.(265-267)ctC>ctT	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							111.0	94.0	100.0					6																	30681830		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681830G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.267C>T	6.37:g.30681830G>A			Somatic				MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L	p.L89L	NM_014641	NP_055456	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			2	707	-			89			FHA.|Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.267C>T	CCDS34384.1																																																																																				0.517	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		4	98	0	0	0	1	0	4	98				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	63	0	0	0	1	0	38	63				
PLCH1	23007	broad.mit.edu	37	3	155200705	155200705	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:155200705G>C	ENST00000340059.7	-	23	3133	c.3134C>G	c.(3133-3135)tCt>tGt	p.S1045C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1007C|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1045					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGCAGTAGATACAATGGT	0.463																																						uc021xge.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3133-3135)tCt>tGt		Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.							163.0	158.0	159.0					3																	155200705		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200705G>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3134C>G	3.37:g.155200705G>C	ENSP00000345988:p.Ser1045Cys		Somatic				PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1007C	p.S1045C	NM_001130960	NP_001124432	WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3411	-			1045					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3134C>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250529	0.22880	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.89;1.88;1.88	5.57	2.79	0.32731	.	1.277270	0.05124	N	0.491303	T	0.19287	0.0463	N	0.20986	0.625	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.27938	-1.0059	10	0.48119	T	0.1	.	6.6716	0.23072	0.1561:0.1461:0.6977:0.0	.	1007;1045	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1007;1045;1007;1007	ENSP00000417502:S1007C;ENSP00000345988:S1045C;ENSP00000335469:S1007C;ENSP00000412977:S1007C	ENSP00000335469:S1007C	S	-	2	0	PLCH1	156683399	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	0.300000	0.22699	-0.229000	0.12294	TCT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		3	177	0	0	0	1	0	3	177				
EIF4G2	1982	broad.mit.edu	37	11	10822345	10822345	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:10822345A>G	ENST00000526148.1	-	16	2087	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.I526T|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.I526T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I488T|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTTTCCTGGATAAGCGGTGG	0.383																																						uc009ygf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1576-1578)aTc>aCc		Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.							115.0	112.0	113.0					11																	10822345		2201	4294	6495	SO:0001583	missense	1982				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822345A>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1577T>C	11.37:g.10822345A>G	ENSP00000433664:p.Ile526Thr		Somatic				EIF4G2_uc001mjb.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjc.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjd.3_Missense_Mutation_p.I488T	p.I526T	NM_001418	NP_001409	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	1883	-			526						Missense_Mutation	SNP	ENST00000526148.1	37	c.1577T>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801380	0.70567	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.43688	2.29;2.29;2.29;2.28;0.94	6.06	6.06	0.98353	.	0.044625	0.85682	D	0.000000	T	0.43567	0.1253	L	0.49350	1.555	0.47949	D	0.999558	D;D	0.59357	0.985;0.985	P;P	0.47206	0.541;0.541	T	0.42949	-0.9421	9	0.13108	T	0.6	-6.1952	16.6245	0.84952	1.0:0.0:0.0:0.0	.	526;599	P78344;B4DZF2	IF4G2_HUMAN;.	T	526;526;526;488;599;31	ENSP00000433664:I526T;ENSP00000433371:I526T;ENSP00000340281:I526T;ENSP00000379778:I488T;ENSP00000433561:I31T	ENSP00000340281:I526T	I	-	2	0	EIF4G2	10778921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.323000	0.78572	0.528000	0.53228	ATC		0.383	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		48	75	0	0	0	1	0	48	75				
ITGAD	3681	broad.mit.edu	37	16	31435803	31435803	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:31435803G>C	ENST00000389202.2	+	29	3326	c.3277G>C	c.(3277-3279)Gaa>Caa	p.E1093Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1093					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATGGTGCTAGAAGAAGACGA	0.542																																						uc010cap.1																			0		p.E1094K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3280-3282)Gaa>Caa		Homo sapiens integrin, alpha D (ITGAD), mRNA.							116.0	95.0	102.0					16																	31435803		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435803G>C	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3277G>C	16.37:g.31435803G>C	ENSP00000373854:p.Glu1093Gln		Somatic				ITGAD_uc002ebv.1_Missense_Mutation_p.E1093Q	p.E1094Q	NM_005353	NP_005344	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			28	3329	+			1093					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3280G>C	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411474	0.62399	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58652	0.32	5.15	5.15	0.70609	.	.	.	.	.	T	0.78110	0.4232	M	0.84846	2.72	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.70923	-0.4740	9	0.87932	D	0	.	14.1208	0.65186	0.0:0.0:1.0:0.0	.	1109;1093	Q59H14;Q13349	.;ITAD_HUMAN	Q	1109;1093	ENSP00000373854:E1093Q	ENSP00000373854:E1093Q	E	+	1	0	ITGAD	31343304	0.998000	0.40836	0.070000	0.20053	0.017000	0.09413	1.942000	0.40243	2.392000	0.81423	0.563000	0.77884	GAA		0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	105	0	0	0	1	0	6	105				
FAM135B	51059	broad.mit.edu	37	8	139163752	139163752	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:139163752A>G	ENST00000395297.1	-	13	3136	c.2966T>C	c.(2965-2967)gTg>gCg	p.V989A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	989										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAATGGGTCACAGTGGGGCA	0.493										HNSCC(54;0.14)																												uc003yuy.3																			0		p.T988T(1)|p.V989V(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2965-2967)gTg>gCg		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							101.0	89.0	93.0					8																	139163752		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163752A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2966T>C	8.37:g.139163752A>G	ENSP00000378710:p.Val989Ala	HNSCC(54;0.14)	Somatic				FAM135B_uc003yux.3_Missense_Mutation_p.V890A|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.V551A|FAM135B_uc003yvb.3_Missense_Mutation_p.V551A	p.V989A	NM_015912	NP_056996	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	3137	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		989					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2966T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266860	0.40095	.	.	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.45	-1.81	0.07882	.	1.315360	0.04859	N	0.443795	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.001	B;B;B	0.16722	0.016;0.011;0.003	T	0.32295	-0.9912	10	0.15952	T	0.53	-4.9411	2.4819	0.04589	0.3313:0.3984:0.1525:0.1179	.	989;989;989	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	A	989	ENSP00000378710:V989A	ENSP00000276737:V989A	V	-	2	0	FAM135B	139232934	0.286000	0.24305	0.920000	0.36463	0.962000	0.63368	0.947000	0.29082	0.039000	0.15632	0.533000	0.62120	GTG		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	70	0	0	0	1	0	41	70				
TMEM109	79073	broad.mit.edu	37	11	60689584	60689584	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:60689584C>T	ENST00000227525.3	+	4	1082	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	TMEM132A_ENST00000005286.4_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R227C|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	227					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GGAGGAGCTGCGCTGGCGCCA	0.687																																						uc001nqg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(679-681)Cgc>Tgc		Homo sapiens transmembrane protein 109 (TMEM109), mRNA.							13.0	15.0	14.0					11																	60689584		2201	4296	6497	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689584C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.679C>T	11.37:g.60689584C>T	ENSP00000227525:p.Arg227Cys		Somatic				TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	p.R227C	NM_024092	NP_076997	WXS	Illumina GAIIx	Phase_I	Q9BVC6	TM109_HUMAN			3	1057	+			227						Missense_Mutation	SNP	ENST00000227525.3	37	c.679C>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110550	0.77210	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000003	T	0.67581	0.2908	L	0.56769	1.78	0.46113	D	0.998876	D	0.89917	1.0	P	0.59288	0.855	T	0.71031	-0.4710	9	0.87932	D	0	-5.8291	13.0564	0.58982	0.1605:0.8395:0.0:0.0	.	227	Q9BVC6	TM109_HUMAN	C	227	.	ENSP00000227525:R227C	R	+	1	0	TMEM109	60446160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.146000	0.42216	1.095000	0.41419	0.650000	0.86243	CGC		0.687	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	39	0	0	0	1	0	5	39				
ACAD10	80724	broad.mit.edu	37	12	112185090	112185101	+	Splice_Site	DEL	CCCACTCAGGTT	CCCACTCAGGTT	-	rs377685712		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:112185090_112185101delCCCACTCAGGTT	ENST00000313698.4	+	16	2549_2552	c.2394_2397delCCCACTCAGGTT	c.(2392-2397)caccca>ca	p.HP798del	ACAD10_ENST00000392636.2_Splice_Site_p.HP400del|ACAD10_ENST00000455480.2_Splice_Site_p.HP829del|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	798						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAATATGCTCCCCACTCAGGTTGCCTCTTCAG	0.561																																						uc009zvx.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.e17-1		Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112185090_112185101delCCCACTCAGGTT	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2395-1CCCACTCAGGTT>-	12.37:g.112185090_112185101delCCCACTCAGGTT			Somatic				ACAD10_uc001tsp.3_Splice_Site_p.V799_splice|ACAD10_uc001tsq.3_Splice_Site_p.V799_splice|ACAD10_uc001tss.1_Splice_Site	p.V830_splice	NM_001136538	NP_001130010	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			17	2688	+			799					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Splice_Site	DEL	ENST00000313698.4	37	c.2488_splice	CCDS31903.1																																																																																				0.561	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	In_Frame_Del	34	56						34	56	---	---	---	---
TEX11	56159	broad.mit.edu	37	X	70053437	70053438	+	Frame_Shift_Ins	INS	-	-	AACT			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:70053437_70053438insAACT	ENST00000395889.2	-	9	731_732	c.576_577insAGTT	c.(574-579)gttgctfs	p.A193fs	TEX11_ENST00000344304.3_Frame_Shift_Ins_p.A193fs|TEX11_ENST00000374333.2_Frame_Shift_Ins_p.A178fs	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	193					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCCCTTGAGCAACTGCCTGAA	0.356																																						uc004dyl.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(574-579)gttgctfs		Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	56159						protein binding	g.chrX:70053437_70053438insAACT	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.573_576dupAGTT	X.37:g.70053438_70053441dupAACT	ENSP00000379226:p.Ala193fs		Somatic				TEX11_uc004dym.3_Frame_Shift_Ins_p.V177fs	p.V192fs	NM_001003811	NP_001003811	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			8	738_739	-	Renal(35;0.156)		192					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Frame_Shift_Ins	INS	ENST00000395889.2	37	c.576_577insAGTT	CCDS35323.1																																																																																				0.356	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			23	11						23	11	---	---	---	---
