#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACVR1C	130399	hgsc.bcm.edu	37	2	158443712	158443712	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:158443712C>A	ENST00000243349.8	-	2	651	c.291G>T	c.(289-291)ctG>ctT	p.L97L	ACVR1C_ENST00000348328.5_Silent_p.L97L|ACVR1C_ENST00000335450.7_Silent_p.L97L|ACVR1C_ENST00000409680.3_Silent_p.L47L	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTGGAAGGTGCAGTGTTATGT	0.378																																																	0													158.0	151.0	153.0					2																	158443712		2203	4300	6503	SO:0001819	synonymous_variant	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.291G>T	2.37:g.158443712C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000243349.8	37	CCDS2205.1																																																																																				0.378	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2		NM_145259	
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129064971	129064971	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:129064971C>A	ENST00000325006.3	+	15	1751	c.1697C>A	c.(1696-1698)cCc>cAc	p.P566H	AHCYL2_ENST00000531335.2_Missense_Mutation_p.P485H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.P463H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.P565H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.P463H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.P464H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	566					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.P463H(1)|p.P566H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TACCTGTTGCCCAAGAAGATG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)												2	Substitution - Missense(2)	kidney(2)											161.0	140.0	147.0					7																	129064971		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1697C>A	7.37:g.129064971C>A	ENSP00000315931:p.Pro566His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.826183|4.826183	0.90955|0.90955	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	D;D;D;D;D;D|D	0.87966|0.87809	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32|-2.3	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96128|0.96128	0.8738|0.8738	H|H	0.97465|0.97465	4.01|4.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.993;0.993;0.997;0.993;0.995|.	D|D	0.97578|0.97578	1.0109|1.0109	10|8	0.87932|0.87932	D|D	0|0	-11.8978|-11.8978	17.7242|17.7242	0.88360|0.88360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	463;464;566;463;565|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	H|T	566;565;485;463;464;463|473	ENSP00000315931:P566H;ENSP00000413639:P565H;ENSP00000431787:P485H;ENSP00000420459:P463H;ENSP00000405267:P464H;ENSP00000420801:P463H|ENSP00000419346:P473T	ENSP00000315931:P566H|ENSP00000419346:P473T	P|P	+|+	2|1	0|0	AHCYL2|AHCYL2	128852207|128852207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.796000|7.796000	0.85898|0.85898	2.530000|2.530000	0.85305|0.85305	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			
AMPD1	270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115221022	115221022	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:115221022T>A	ENST00000520113.2	-	8	1138	c.1123A>T	c.(1123-1125)Aag>Tag	p.K375*	AMPD1_ENST00000369538.3_Nonsense_Mutation_p.K371*|AMPD1_ENST00000353928.6_Nonsense_Mutation_p.K342*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	375					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.K375*(1)|p.K342*(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAGTTCCTTTAGGGTCAGA	0.383																																																	2	Substitution - Nonsense(2)	kidney(2)											177.0	169.0	172.0					1																	115221022		2203	4300	6503	SO:0001587	stop_gained	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1123A>T	1.37:g.115221022T>A	ENSP00000430075:p.Lys375*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896960	0.72639	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2149	15.18	0.72947	0.0:0.0:0.0:1.0	.	.	.	.	X	375;371;342	.	ENSP00000316520:K342X	K	-	1	0	AMPD1	115022545	1.000000	0.71417	0.994000	0.49952	0.105000	0.19272	4.134000	0.57990	2.054000	0.61138	0.459000	0.35465	AAG		0.383	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			
ANAPC11	51529	broad.mit.edu;hgsc.bcm.edu	37	17	79857246	79857246	+	Intron	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:79857246G>A	ENST00000575195.2	+	2	289				ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572639.1_Intron|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.G80R|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571024.2_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G80R(1)		kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCAGCACACCGGATCCCTGAT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											85.0	72.0	76.0					17																	79857246		2203	4300	6503	SO:0001627	intron_variant	51529			AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-550G>A	17.37:g.79857246G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591750	0.28357	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.93	-3.47	0.04753	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.25676	-1.0125	7	0.66056	D	0.02	.	1.451	0.02375	0.1543:0.3918:0.2563:0.1975	.	80	Q9NYG5-2	.	R	80	.	ENSP00000349957:G80R	G	+	1	0	ANAPC11	77450538	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.371000	0.07513	-0.923000	0.03785	-1.412000	0.01120	GGA		0.612	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2		NM_016476	
ANKRD44	91526	broad.mit.edu;ucsc.edu	37	2	197946412	197946412	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:197946412C>T	ENST00000328737.2	-	15	1496	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ANKRD44_ENST00000539527.1_Missense_Mutation_p.E427K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E474K|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E499K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E474K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E491K|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	499								p.E499K(1)|p.E314K(1)|p.E474K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTTCAAGTTCTTCTGAATTA	0.363																																																	3	Substitution - Missense(3)	kidney(3)											203.0	203.0	203.0					2																	197946412		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1420G>A	2.37:g.197946412C>T	ENSP00000331516:p.Glu474Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813474	0.70912	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.65732	2.42;-0.17;-0.13;-0.13;2.42;-0.09;2.42;-0.17	5.36	5.36	0.76844	.	0.281279	0.37393	N	0.002117	T	0.48370	0.1496	N	0.16567	0.415	0.45439	D	0.998415	B;P;P	0.48503	0.001;0.911;0.819	B;B;B	0.44133	0.006;0.364;0.442	T	0.42120	-0.9470	10	0.10636	T	0.68	.	17.2152	0.86941	0.0:1.0:0.0:0.0	.	427;499;517	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	K	314;491;474;474;474;174;499;427	ENSP00000403415:E314K;ENSP00000282272:E491K;ENSP00000331516:E474K;ENSP00000402420:E474K;ENSP00000338794:E474K;ENSP00000416319:E174K;ENSP00000387141:E499K;ENSP00000437825:E427K	ENSP00000282272:E491K	E	-	1	0	ANKRD44	197654657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.681000	0.61663	2.649000	0.89929	0.563000	0.77884	GAA		0.363	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697	
APITD1	378708	hgsc.bcm.edu	37	1	10494765	10494765	+	Intron	SNP	T	T	C	rs569115851		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:10494765T>C	ENST00000309048.3	+	3	284				APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000462462.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GAGAACTTGATTATCCGACAC	0.423																																																	0													136.0	132.0	134.0					1																	10494765		2203	4300	6503	SO:0001627	intron_variant	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.209+18T>C	1.37:g.10494765T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NFE5|Q8NFG5	RNA	SNP	ENST00000309048.3	37	CCDS115.1																																																																																				0.423	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2		NM_199294	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153870723	153870723	+	Splice_Site	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:153870723T>A	ENST00000356448.4	+	6	1771		c.e6+2		ARHGEF26_ENST00000465093.1_Splice_Site|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26						endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGCAAAAAGTAAGTGCACTG	0.378																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0													59.0	55.0	56.0					3																	153870723		1933	4129	6062	SO:0001630	splice_region_variant	26084			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1487+2T>A	3.37:g.153870723T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Splice_Site	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584409	0.86748	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7039	0.77563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF26	155353413	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.930000	0.87610	2.105000	0.64084	0.455000	0.32223	.		0.378	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3		NM_015595	Intron
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26413708	26413708	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:26413708G>A	ENST00000381655.2	+	30	3044	c.2902G>A	c.(2902-2904)Gcc>Acc	p.A968T	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.A903T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	928					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A968T(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCATCAACGCCTTGGTCCA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											157.0	159.0	159.0					13																	26413708		2021	4176	6197	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2902G>A	13.37:g.26413708G>A	ENSP00000371070:p.Ala968Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	36	5.696399	0.96802	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.59083	0.29;0.29	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.83384	2.64	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64595	0.848;0.927;0.848	T	0.80812	-0.1215	10	0.87932	D	0	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	903;748;928	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	T	968;903;748	ENSP00000371070:A968T;ENSP00000255283:A903T	ENSP00000255283:A903T	A	+	1	0	ATP8A2	25311708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.465000	0.97660	2.724000	0.93272	0.650000	0.86243	GCC		0.517	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529	
ATRNL1	26033	hgsc.bcm.edu	37	10	116930981	116930981	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:116930981G>T	ENST00000355044.3	+	8	1405	c.1279G>T	c.(1279-1281)Gtc>Ttc	p.V427F	ATRNL1_ENST00000527407.1_Missense_Mutation_p.L397F|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	427					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAGAGATGTTGTCATGATCAT	0.353																																																	0													177.0	171.0	173.0					10																	116930981		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1279G>T	10.37:g.116930981G>T	ENSP00000347152:p.Val427Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341725	0.61073	.	.	ENSG00000107518	ENST00000355044	T	0.66280	-0.2	5.76	4.85	0.62838	Kelch-type beta propeller (1);	0.232106	0.43919	D	0.000519	T	0.63046	0.2478	M	0.65498	2.005	0.80722	D	1	B;P	0.46512	0.437;0.879	B;P	0.45829	0.117;0.494	T	0.59434	-0.7455	10	0.19147	T	0.46	-14.2352	14.2055	0.65732	0.0712:0.0:0.9288:0.0	.	427;427	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	F	427	ENSP00000347152:V427F	ENSP00000347152:V427F	V	+	1	0	ATRNL1	116920971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.722000	0.93159	0.650000	0.86243	GTC		0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52437163	52437163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:52437163G>C	ENST00000460680.1	-	14	2352	c.1881C>G	c.(1879-1881)taC>taG	p.Y627*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y609*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y627*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTGGGTGAGTATTTCTCCC	0.582			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											101.0	101.0	101.0					3																	52437163		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1881C>G	3.37:g.52437163G>C	ENSP00000417132:p.Tyr627*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494687	0.64186	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	.	.	.	5.94	3.93	0.45458	.	0.059126	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.4847	0.11783	0.3556:0.0:0.6444:0.0	.	.	.	.	X	627;609;128	.	ENSP00000296288:Y609X	Y	-	3	2	BAP1	52412203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.907000	0.28531	1.519000	0.48950	0.655000	0.94253	TAC		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160240140	160240140	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:160240140C>A	ENST00000392783.2	-	24	4233	c.3738G>T	c.(3736-3738)tgG>tgT	p.W1246C	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.W1212C|BAZ2B_ENST00000343439.5_Missense_Mutation_p.W1146C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.W1210C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W1246C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCTACCACCCATTTATCTC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											139.0	126.0	130.0					2																	160240140		1825	4071	5896	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3738G>T	2.37:g.160240140C>A	ENSP00000376534:p.Trp1246Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734077	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.63580	0.01;0.0;0.01;-0.05	5.77	5.77	0.91146	.	0.000000	0.35151	U	0.003407	T	0.78848	0.4348	M	0.67397	2.05	0.80722	D	1	B;D	0.89917	0.224;1.0	B;D	0.69142	0.157;0.962	T	0.79157	-0.1919	10	0.87932	D	0	-4.8889	20.3559	0.98840	0.0:1.0:0.0:0.0	.	1210;1246	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	C	1210;1246;1212;1146	ENSP00000376533:W1210C;ENSP00000376534:W1246C;ENSP00000348087:W1212C;ENSP00000339670:W1146C	ENSP00000339670:W1146C	W	-	3	0	BAZ2B	159948386	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.121000	0.50438	2.890000	0.99128	0.585000	0.79938	TGG		0.308	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
BRAF	673	hgsc.bcm.edu	37	7	140550005	140550005	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:140550005T>A	ENST00000288602.6	-	2	206	c.146A>T	c.(145-147)aAt>aTt	p.N49I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	49					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)		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)	TTGTTTGATATTCCACACCTA	0.313		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)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													101.0	108.0	106.0					7																	140550005		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	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.146A>T	7.37:g.140550005T>A	ENSP00000288602:p.Asn49Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021513	0.75275	.	.	ENSG00000157764	ENST00000288602	T	0.81163	-1.46	4.89	4.89	0.63831	.	0.098794	0.64402	D	0.000001	T	0.74435	0.3716	L	0.52011	1.625	0.58432	D	0.999999	B	0.31680	0.335	B	0.27500	0.08	T	0.76250	-0.3028	10	0.87932	D	0	.	12.0091	0.53276	0.0:0.0:0.0:1.0	.	49	P15056	BRAF_HUMAN	I	49	ENSP00000288602:N49I	ENSP00000288602:N49I	N	-	2	0	BRAF	140196474	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.408000	0.80041	1.838000	0.53458	0.454000	0.30748	AAT		0.313	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1		NM_004333	
ASUN	55726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27066946	27066946	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:27066946G>C	ENST00000261191.7	-	13	2071	c.1535C>G	c.(1534-1536)cCt>cGt	p.P512R	ASUN_ENST00000539625.1_Missense_Mutation_p.P411R	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	512					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P512R(1)									TGTGGAAATAGGTAGAGGATC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											86.0	89.0	88.0					12																	27066946		2202	4294	6496	SO:0001583	missense	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1535C>G	12.37:g.27066946G>C	ENSP00000261191:p.Pro512Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751805	0.89753	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.45668	0.89;0.89;0.89	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70085	-0.4969	10	0.87932	D	0	-16.8409	19.4877	0.95037	0.0:0.0:1.0:0.0	.	512;411	Q9NVM9;B4DNK1	M89BB_HUMAN;.	R	159;512;411;99;9	ENSP00000445645:P159R;ENSP00000261191:P512R;ENSP00000443724:P411R	ENSP00000261190:P9R	P	-	2	0	C12orf11	26958213	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.802000	0.99131	2.660000	0.90430	0.591000	0.81541	CCT		0.308	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164	
CARD6	84674	hgsc.bcm.edu;ucsc.edu	37	5	40854473	40854475	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr5:40854473_40854475delGTC	ENST00000254691.5	+	3	3238_3240	c.3039_3041delGTC	c.(3037-3042)aagtca>aaa	p.S1016del	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1016					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTCAACCTAAGTCATCCTCAACC	0.512																																																	0																																										SO:0001651	inframe_deletion	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.3039_3041delGTC	5.37:g.40854473_40854475delGTC	ENSP00000254691:p.Ser1016del	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LR2	In_Frame_Del	DEL	ENST00000254691.5	37	CCDS3935.1																																																																																				0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			
CENPB	1059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3765589	3765589	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr20:3765589A>G	ENST00000379751.4	-	1	1748	c.1542T>C	c.(1540-1542)agT>agC	p.S514S	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	514	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)	p.S514S(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						cCTCTTCCTCACTGTCTGAAT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											174.0	137.0	149.0					20																	3765589		2203	4300	6503	SO:0001819	synonymous_variant	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1542T>C	20.37:g.3765589A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96EI4	Silent	SNP	ENST00000379751.4	37	CCDS13064.1																																																																																				0.567	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2		NM_001810	
CLIC2	1193	broad.mit.edu;ucsc.edu	37	X	154563725	154563725	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:154563725C>A	ENST00000369449.2	-	1	230	c.12G>T	c.(10-12)ctG>ctT	p.L4L	RP13-228J13.1_ENST00000444722.1_RNA|CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	4	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.L4L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCGGGCCGCAGGCCTGACA	0.418																																					Melanoma(108;581 1592 2289 21669 28822)												1	Substitution - coding silent(1)	kidney(1)											97.0	95.0	96.0					X																	154563725		2203	4299	6502	SO:0001819	synonymous_variant	1193			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.12G>T	X.37:g.154563725C>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K9S0|O15174|Q5JT80|Q8TCE3	Silent	SNP	ENST00000369449.2	37	CCDS14767.1																																																																																				0.418	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1		NM_001289	
CLPX	10845	hgsc.bcm.edu	37	15	65471324	65471324	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:65471324C>T	ENST00000300107.3	-	3	494	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	102					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GACAGCGCAGCTGGTTTCCAC	0.408																																																	0													122.0	112.0	115.0					15																	65471324		2202	4299	6501	SO:0001819	synonymous_variant	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.306G>A	15.37:g.65471324C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	CCDS10202.1																																																																																				0.408	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2		NM_006660	
COL22A1	169044	broad.mit.edu;ucsc.edu	37	8	139825225	139825225	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr8:139825225C>A	ENST00000303045.6	-	8	1729	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	COL22A1_ENST00000435777.1_Missense_Mutation_p.R428I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	428					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R428I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCTGCGTGTCTCGAGTCACA	0.517										HNSCC(7;0.00092)																																							1	Substitution - Missense(1)	kidney(1)											154.0	127.0	136.0					8																	139825225		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1283G>T	8.37:g.139825225C>A	ENSP00000303153:p.Arg428Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558783	0.65538	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02140	4.43;4.43	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);	0.000000	0.36444	U	0.002600	T	0.08582	0.0213	L	0.56769	1.78	0.39289	D	0.964693	D	0.65815	0.995	P	0.62014	0.897	T	0.19484	-1.0304	9	.	.	.	.	14.8862	0.70570	0.0:1.0:0.0:0.0	.	428	Q8NFW1	COMA1_HUMAN	I	428	ENSP00000303153:R428I;ENSP00000387655:R428I	.	R	-	2	0	COL22A1	139894407	0.814000	0.29104	0.014000	0.15608	0.798000	0.45092	5.551000	0.67274	2.203000	0.70933	0.460000	0.39030	AGA		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238280964	238280964	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:238280964C>T	ENST00000295550.4	-	9	4148	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R	COL6A3_ENST00000353578.4_Silent_p.R1026R|COL6A3_ENST00000392004.3_Silent_p.R1026R|COL6A3_ENST00000346358.4_Silent_p.R1032R|COL6A3_ENST00000472056.1_Silent_p.R625R|COL6A3_ENST00000347401.3_Silent_p.R1031R|COL6A3_ENST00000409809.1_Silent_p.R1026R|COL6A3_ENST00000392003.2_Silent_p.R825R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1232	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1232R(1)|p.R1026R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACCACGTCCCTCTTGCCAC	0.542																																																	2	Substitution - coding silent(2)	kidney(2)											82.0	76.0	78.0					2																	238280964		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3696G>A	2.37:g.238280964C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
CRISP2	7180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49667553	49667553	+	Missense_Mutation	SNP	T	T	C	rs377127579		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:49667553T>C	ENST00000339139.4	-	6	471	c.235A>G	c.(235-237)Act>Gct	p.T79A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	79	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.T79A(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTTGTAAAGTGCACTTGTTT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											161.0	131.0	141.0					6																	49667553		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.235A>G	6.37:g.49667553T>C	ENSP00000339155:p.Thr79Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358086	0.41801	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.05996	3.36	5.02	5.02	0.67125	CAP domain (3);	0.479744	0.23485	N	0.047674	T	0.03348	0.0097	L	0.41492	1.28	0.25804	N	0.984476	P;B	0.34909	0.475;0.003	P;B	0.45167	0.472;0.013	T	0.43653	-0.9378	10	0.12766	T	0.61	.	11.3038	0.49323	0.0:0.0:0.0:1.0	.	79;79	Q7Z7B2;P16562	.;CRIS2_HUMAN	A	79	ENSP00000339155:T79A	ENSP00000211238:T79A	T	-	1	0	CRISP2	49775512	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	1.837000	0.39201	2.230000	0.72887	0.528000	0.53228	ACT		0.343	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2		NM_003296	
CUBN	8029	broad.mit.edu;ucsc.edu	37	10	16975260	16975260	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:16975260T>A	ENST00000377833.4	-	40	6015	c.5950A>T	c.(5950-5952)Acg>Tcg	p.T1984S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1984	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T1984S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCTCCCGTCCTCAGGAAG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											64.0	57.0	59.0					10																	16975260		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5950A>T	10.37:g.16975260T>A	ENSP00000367064:p.Thr1984Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137612	0.37728	.	.	ENSG00000107611	ENST00000377833	T	0.74842	-0.88	5.66	5.66	0.87406	CUB (4);	0.200618	0.25456	N	0.030545	T	0.64125	0.2570	N	0.21142	0.635	0.80722	D	1	B	0.25667	0.131	B	0.27262	0.078	T	0.60732	-0.7205	10	0.35671	T	0.21	.	15.9023	0.79387	0.0:0.0:0.0:1.0	.	1984	O60494	CUBN_HUMAN	S	1984	ENSP00000367064:T1984S	ENSP00000367064:T1984S	T	-	1	0	CUBN	17015266	0.996000	0.38824	0.848000	0.33437	0.741000	0.42261	2.501000	0.45389	2.153000	0.67306	0.533000	0.62120	ACG		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
DCAF8L2	347442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27766775	27766775	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:27766775C>T	ENST00000451261.2	+	5	2162	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	588								p.T555M(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CGTCACGTGACGCAGAGAGGT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											89.0	63.0	71.0					X																	27766775		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1763C>T	X.37:g.27766775C>T	ENSP00000462745:p.Thr588Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.502	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		XM_293354	
DDX26B	203522	hgsc.bcm.edu	37	X	134715017	134715017	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:134715017C>T	ENST00000370752.4	+	16	2760	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	809										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAAGGACCTCTGGAGATG	0.299																																																	0													36.0	34.0	35.0					X																	134715017		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2426C>T	X.37:g.134715017C>T	ENSP00000359788:p.Pro809Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294314	0.81025	.	.	ENSG00000165359	ENST00000370752	T	0.32753	1.44	4.5	4.5	0.54988	.	0.099676	0.64402	D	0.000001	T	0.50446	0.1616	M	0.79123	2.44	0.58432	D	0.999991	D;P	0.56287	0.975;0.749	P;B	0.55161	0.77;0.439	T	0.58267	-0.7666	10	0.62326	D	0.03	-6.5282	15.9529	0.79859	0.0:1.0:0.0:0.0	.	809;809	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	L	809	ENSP00000359788:P809L	ENSP00000359788:P809L	P	+	2	0	DDX26B	134542683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.452000	0.66638	2.157000	0.67596	0.594000	0.82650	CCT		0.299	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1		NM_182540	
DICER1	23405	hgsc.bcm.edu	37	14	95577719	95577719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:95577719C>A	ENST00000526495.1	-	16	2482	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*	DICER1_ENST00000541352.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E731*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	731					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCTCTTCTTCATCATGCAAA	0.413			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													296.0	261.0	273.0					14																	95577719		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2191G>T	14.37:g.95577719C>A	ENSP00000437256:p.Glu731*	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	43	10.148590	0.99346	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.69	5.69	0.88448	.	0.138738	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-21.6799	19.8126	0.96553	0.0:1.0:0.0:0.0	.	.	.	.	X	731	.	ENSP00000343745:E731X	E	-	1	0	DICER1	94647472	1.000000	0.71417	0.991000	0.47740	0.850000	0.48378	7.783000	0.85696	2.680000	0.91292	0.650000	0.86243	GAA		0.413	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			
DPY19L1	23333	broad.mit.edu;hgsc.bcm.edu	37	7	35029520	35029520	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:35029520C>T	ENST00000310974.4	-	7	723	c.579G>A	c.(577-579)ttG>ttA	p.L193L	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	193						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L193L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAAAGAAGCACAACACTGTAA	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	47.0	49.0					7																	35029520		1811	4079	5890	SO:0001819	synonymous_variant	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.579G>A	7.37:g.35029520C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																				0.338	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			
DYDC1	143241	hgsc.bcm.edu	37	10	82112339	82112339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:82112339G>A	ENST00000372204.3	-	3	183	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	DYDC2_ENST00000372198.1_Intron|DYDC2_ENST00000372197.1_Intron|DYDC1_ENST00000421924.2_Nonsense_Mutation_p.Q7*|DYDC2_ENST00000372199.1_5'UTR|DYDC1_ENST00000372202.1_Nonsense_Mutation_p.Q7*	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	7										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			AGGTGCTTTTGAAGATATATT	0.373																																																	0													53.0	54.0	54.0					10																	82112339		2203	4300	6503	SO:0001587	stop_gained	143241			BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.19C>T	10.37:g.82112339G>A	ENSP00000361278:p.Gln7*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Nonsense_Mutation	SNP	ENST00000372204.3	37	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	G	39	7.818969	0.98507	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362;ENST00000453477	.	.	.	5.97	5.04	0.67666	.	0.640591	0.15505	N	0.258853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5184	12.6463	0.56735	0.0:0.0:0.8359:0.1641	.	.	.	.	X	7	.	ENSP00000361276:Q7X	Q	-	1	0	DYDC1	82102319	0.988000	0.35896	0.987000	0.45799	0.888000	0.51559	2.420000	0.44679	2.836000	0.97738	0.655000	0.94253	CAA		0.373	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1		NM_138812	
EIF4E2	9470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233431788	233431788	+	Splice_Site	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:233431788G>A	ENST00000258416.3	+	6	1202	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	EIF4E2_ENST00000409514.1_Splice_Site_p.E177K|EIF4E2_ENST00000409322.1_Splice_Site_p.E132K|EIF4E2_ENST00000409394.1_Splice_Site_p.E132K|EIF4E2_ENST00000409495.1_Splice_Site_p.E177K|EIF4E2_ENST00000409098.1_Splice_Site_p.E177K|EIF4E2_ENST00000409167.3_Splice_Site_p.E132K	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	177	7-methylguanosine-containing mRNA cap binding.				cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)	p.E177K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCTGGTAGGAAGACATTAT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											85.0	82.0	83.0					2																	233431788		2203	4300	6503	SO:0001630	splice_region_variant	9470			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.529-1G>A	2.37:g.233431788G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907023	0.92107	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.83275	0.996;0.996;0.929	T	0.78816	-0.2055	9	.	.	.	-13.2117	17.243	0.87019	0.0:0.0:1.0:0.0	.	132;177;177	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	K	177;177;177;177;132;132;132;172	ENSP00000258416:E177K;ENSP00000387336:E177K;ENSP00000386996:E177K;ENSP00000386876:E177K;ENSP00000387328:E132K;ENSP00000386424:E132K;ENSP00000386983:E132K;ENSP00000390904:E172K	.	E	+	1	0	EIF4E2	233140032	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	GAA		0.507	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2		NM_004846	Missense_Mutation
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53686061	53686061	+	Splice_Site	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:53686061G>T	ENST00000257934.4	+	28	5887		c.e28-1		ESPL1_ENST00000552462.1_Splice_Site	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)						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)	p.?(1)		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						CTCCTCCTCAGTATGGGGCCT	0.527																																					Colon(53;1069 1201 2587 5382)												1	Unknown(1)	kidney(1)											77.0	77.0	77.0					12																	53686061		2203	4300	6503	SO:0001630	splice_region_variant	9700			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.5797-1G>T	12.37:g.53686061G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601338	0.28534	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7919	0.69848	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESPL1	51972328	1.000000	0.71417	0.935000	0.37517	0.219000	0.24729	4.505000	0.60421	2.615000	0.88500	0.650000	0.86243	.		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	Intron
MTFR2	113115	hgsc.bcm.edu;ucsc.edu	37	6	136560875	136560875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:136560875G>A	ENST00000420702.1	-	6	987	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MTFR2_ENST00000451457.2_Nonsense_Mutation_p.Q200*	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	200	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											CCTGGAAGCTGATCTGGGTCC	0.532																																																	0													66.0	56.0	60.0					6																	136560875		2203	4300	6503	SO:0001587	stop_gained	0			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.598C>T	6.37:g.136560875G>A	ENSP00000395232:p.Gln200*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Nonsense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686190	0.68157	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	.	.	.	5.5	0.787	0.18596	.	1.449840	0.04221	N	0.333460	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.0317	6.0631	0.19848	0.1988:0.3105:0.4907:0.0	.	.	.	.	X	200;200;157	.	ENSP00000410861:Q157X	Q	-	1	0	FAM54A	136602568	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.857000	0.27831	0.206000	0.20587	-0.321000	0.08615	CAG		0.532	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2		NM_138419	
FGL2	10875	broad.mit.edu;ucsc.edu	37	7	76826154	76826154	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:76826154C>T	ENST00000248598.5	-	2	794	c.762G>A	c.(760-762)ctG>ctA	p.L254L	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	254	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.L254L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GACGTGCCTGCAGCACTGTCC	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	109.0	111.0					7																	76826154		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.762G>A	7.37:g.76826154C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1		NM_006682	
GALC	2581	hgsc.bcm.edu	37	14	88406277	88406277	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:88406277T>G	ENST00000261304.2	-	16	1989	c.1883A>C	c.(1882-1884)aAa>aCa	p.K628T	GALC_ENST00000544807.2_Missense_Mutation_p.K572T|GALC_ENST00000393568.4_Missense_Mutation_p.K605T|GALC_ENST00000393569.2_Missense_Mutation_p.K602T	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTATACCATTTTTTTGCTGT	0.313																																																	0													161.0	155.0	157.0					14																	88406277		1859	4117	5976	SO:0001583	missense	2581			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1883A>C	14.37:g.88406277T>G	ENSP00000261304:p.Lys628Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.726071	0.00694	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.82	-5.29	0.02747	.	1.331390	0.04206	N	0.330882	D	0.84083	0.5394	N	0.21583	0.68	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.001;0.003;0.002;0.005	T	0.73313	-0.4022	10	0.14252	T	0.57	0.3823	3.9018	0.09164	0.1565:0.1243:0.4627:0.2565	.	572;605;602;628	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	T	628;572;602;417;605	ENSP00000261304:K628T;ENSP00000437513:K572T;ENSP00000377199:K602T;ENSP00000377198:K605T	ENSP00000261304:K628T	K	-	2	0	GALC	87476030	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.334000	0.07883	-1.237000	0.02539	-3.654000	0.00026	AAA		0.313	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			
GCA	25801	hgsc.bcm.edu;ucsc.edu	37	2	163204196	163204196	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:163204196A>G	ENST00000437150.2	+	2	297	c.136A>G	c.(136-138)Act>Gct	p.T46A	GCA_ENST00000429691.2_Missense_Mutation_p.T27A|GCA_ENST00000233612.4_Missense_Mutation_p.T27A|GCA_ENST00000473240.1_3'UTR	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	46					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATATTCAGACACTTATTCCTC	0.438																																																	0													94.0	84.0	88.0					2																	163204196		2203	4300	6503	SO:0001583	missense	25801			M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.136A>G	2.37:g.163204196A>G	ENSP00000394842:p.Thr46Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090370	0.08632	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	D;T;T;D;T	0.87650	-2.28;1.12;-0.82;-1.69;-0.84	4.99	1.19	0.21007	.	1.509370	0.03913	N	0.282316	T	0.70815	0.3267	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59721	-0.7401	10	0.10636	T	0.68	.	5.7801	0.18301	0.6374:0.1406:0.222:0.0	.	46	P28676	GRAN_HUMAN	A	72;27;46;27;27	ENSP00000393218:T72A;ENSP00000412899:T27A;ENSP00000394842:T46A;ENSP00000403805:T27A;ENSP00000233612:T27A	ENSP00000233612:T27A	T	+	1	0	GCA	162912442	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.211000	0.17474	0.036000	0.15547	-2.543000	0.00179	ACT		0.438	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3		NM_012198	
GNAT2	2780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110151406	110151406	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:110151406T>C	ENST00000351050.3	-	4	494	c.308A>G	c.(307-309)gAc>gGc	p.D103G		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	103					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.D103G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTGTCGCCCGTCATCCTGTAA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											77.0	65.0	69.0					1																	110151406		2203	4300	6503	SO:0001583	missense	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.308A>G	1.37:g.110151406T>C	ENSP00000251337:p.Asp103Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132006	0.56828	.	.	ENSG00000134183	ENST00000351050	T	0.44083	0.93	4.49	-0.8	0.10897	G protein alpha subunit, helical insertion (2);	0.652924	0.15331	N	0.267991	T	0.46870	0.1415	M	0.87269	2.87	0.39607	D	0.969823	P	0.35872	0.525	P	0.52066	0.689	T	0.56226	-0.8014	10	0.72032	D	0.01	.	8.1547	0.31162	0.0:0.0744:0.4335:0.4921	.	103	P19087	GNAT2_HUMAN	G	103	ENSP00000251337:D103G	ENSP00000251337:D103G	D	-	2	0	GNAT2	109952929	0.360000	0.24964	0.001000	0.08648	0.608000	0.37181	2.242000	0.43106	-0.219000	0.10003	0.533000	0.62120	GAC		0.493	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1		NM_005272	
GPR111	222611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	47649747	47649747	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:47649747delC	ENST00000296862.1	+	6	1452	c.1452delC	c.(1450-1452)cgcfs	p.R484fs	GPR111_ENST00000398742.2_Frame_Shift_Del_p.R416fs|GPR111_ENST00000507065.1_Frame_Shift_Del_p.R416fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	484					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTATTTACGCCATGTGTGCA	0.468																																																	0													111.0	103.0	105.0					6																	47649747		2050	4211	6261	SO:0001589	frameshift_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1452delC	6.37:g.47649747delC	ENSP00000296862:p.Arg484fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	ENST00000296862.1	37																																																																																					0.468	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2		NM_153839	
GRB7	2886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37899552	37899552	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:37899552C>T	ENST00000309156.4	+	5	840	c.583C>T	c.(583-585)Cca>Tca	p.P195S	GRB7_ENST00000394211.3_Missense_Mutation_p.P195S|GRB7_ENST00000394204.1_Missense_Mutation_p.P195S|GRB7_ENST00000445327.2_Missense_Mutation_p.P218S|GRB7_ENST00000394209.2_Missense_Mutation_p.P195S|GRB7_ENST00000309185.3_Missense_Mutation_p.P195S|GRB7_ENST00000578702.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	195					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.P195S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAAGAGCTCCCCAGTGAGTGC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											94.0	91.0	92.0					17																	37899552		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.583C>T	17.37:g.37899552C>T	ENSP00000310771:p.Pro195Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405392	0.62288	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.59083	0.29;1.45;1.45;1.45;1.43;0.29	5.31	2.01	0.26516	.	0.348813	0.30142	N	0.010312	T	0.52980	0.1768	M	0.68952	2.095	0.58432	D	0.999991	P;P	0.43024	0.798;0.495	B;B	0.35470	0.14;0.203	T	0.61481	-0.7054	10	0.87932	D	0	-2.2747	15.1763	0.72913	0.0:0.5973:0.4027:0.0	.	195;195	Q14451-2;Q14451	.;GRB7_HUMAN	S	195;195;195;195;218;195	ENSP00000311752:P195S;ENSP00000310771:P195S;ENSP00000377761:P195S;ENSP00000377759:P195S;ENSP00000403459:P218S;ENSP00000377754:P195S	ENSP00000310771:P195S	P	+	1	0	GRB7	35153078	0.087000	0.21565	0.975000	0.42487	0.938000	0.57974	0.607000	0.24209	0.304000	0.22809	0.561000	0.74099	CCA		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2		NM_005310	
HIST1H2BJ	8970	broad.mit.edu;hgsc.bcm.edu	37	6	27100432	27100432	+	Missense_Mutation	SNP	C	C	T	rs137867381		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:27100432C>T	ENST00000607124.1	-	1	97	c.98G>A	c.(97-99)aGc>aAc	p.S33N	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S33N|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S33N			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	33				KRKRS -> SAAH (in Ref. 1; CAA24950). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S33N(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTCCTTGCGGCTGCGCTTGCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											173.0	165.0	168.0					6																	27100432		2203	4300	6503	SO:0001583	missense	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.98G>A	6.37:g.27100432C>T	ENSP00000476136:p.Ser33Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006036	0.54361	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70749	-0.51;-0.51	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.51601	0.1684	L	0.58428	1.81	0.32041	N	0.598278	B	0.12630	0.006	B	0.06405	0.002	T	0.55509	-0.8130	9	0.54805	T	0.06	.	10.7875	0.46413	0.0:0.8063:0.1937:0.0	.	33	P06899	H2B1J_HUMAN	N	33	ENSP00000445633:S33N;ENSP00000342886:S33N	ENSP00000342886:S33N	S	-	2	0	HIST1H2BJ	27208411	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.599000	0.36751	2.273000	0.75805	0.591000	0.81541	AGC		0.557	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2		NM_021058	
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858563	149858563	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149858563C>T	ENST00000331380.2	+	1	39	c.39C>T	c.(37-39)gcC>gcT	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGGCCCGCGCCAAGGCCAAGT	0.597																																																	0													78.0	85.0	83.0					1																	149858563		2203	4300	6503	SO:0001819	synonymous_variant	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.39C>T	1.37:g.149858563C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	CCDS937.1																																																																																				0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1		NM_003517	
HIST2H2AC	8338	broad.mit.edu;hgsc.bcm.edu	37	1	149858593	149858593	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149858593C>T	ENST00000331380.2	+	1	69	c.69C>T	c.(67-69)ggC>ggT	p.G23G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	23						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G23G(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCCGCGCTGGCCTCCAGTTCC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	76.0	74.0					1																	149858593		2203	4299	6502	SO:0001819	synonymous_variant	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.69C>T	1.37:g.149858593C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	CCDS937.1																																																																																				0.657	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1		NM_003517	
HIST2H2AB	317772	hgsc.bcm.edu	37	1	149859101	149859101	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149859101C>T	ENST00000331128.3	-	1	365	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTTGTGACTCTCCGTTTTCT	0.507																																																	0													90.0	92.0	91.0					1																	149859101		2203	4300	6503	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.366G>A	1.37:g.149859101C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.507	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1		NM_175065	
HNRNPD	3184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83280713	83280713	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:83280713C>T	ENST00000313899.7	-	3	647	c.370G>A	c.(370-372)Gta>Ata	p.V124I	HNRNPD_ENST00000352301.4_Missense_Mutation_p.V105I|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.V124I|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Missense_Mutation_p.V72I	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	124	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.V124I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						GTGCAGTCTACAACTTCACCA	0.398																																																	2	Substitution - Missense(2)	kidney(2)											126.0	123.0	124.0					4																	83280713		2203	4300	6503	SO:0001583	missense	3184			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.370G>A	4.37:g.83280713C>T	ENSP00000313199:p.Val124Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.90|16.90	3.249786|3.249786	0.59212|0.59212	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000514671|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	.|D;D;D;D;D;D;D;D;D	.|0.84442	.|-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83041|0.83041	0.5168|0.5168	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.24963	.|0.094;0.094;0.094;0.115	.|B;B;B;B	.|0.32928	.|0.155;0.108;0.032;0.055	T|T	0.78671|0.78671	-0.2113|-0.2113	5|10	.|0.62326	.|D	.|0.03	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|105;124;105;124	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	Y|I	27|124;124;105;72;99;57;124;26;105;78	.|ENSP00000313199:V124I;ENSP00000313327:V124I;ENSP00000305860:V105I;ENSP00000439380:V72I;ENSP00000420926:V57I;ENSP00000421952:V124I;ENSP00000426666:V26I;ENSP00000422615:V105I;ENSP00000425439:V78I	.|ENSP00000307544:V99I	C|V	-|-	2|1	0|0	HNRNPD|HNRNPD	83499737|83499737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.398000|7.398000	0.79919|0.79919	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.398	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2		NM_031370	
HYDIN	54768	broad.mit.edu;ucsc.edu	37	16	70986456	70986456	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:70986456C>A	ENST00000393567.2	-	41	6549	c.6399G>T	c.(6397-6399)atG>atT	p.M2133I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2133					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.M2084I(1)|p.M2132I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACCAGAGTCATCTCGGAGG	0.552																																																	2	Substitution - Missense(2)	kidney(2)											50.0	50.0	50.0					16																	70986456		1990	4177	6167	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6399G>T	16.37:g.70986456C>A	ENSP00000377197:p.Met2133Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	8.765	0.924604	0.18056	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00808	5.67	3.91	0.381	0.16228	.	4.496340	0.01093	U	0.005228	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	10	0.37606	T	0.19	.	7.1448	0.25577	0.0:0.1652:0.5103:0.3245	.	2132	F8WD23	.	I	2133;2132	ENSP00000377197:M2133I	ENSP00000313052:M2132I	M	-	3	0	HYDIN	69543957	0.014000	0.17966	0.003000	0.11579	0.116000	0.19942	-0.247000	0.08866	0.382000	0.24878	0.195000	0.17529	ATG		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26553126	26553126	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:26553126C>T	ENST00000381340.3	-	53	7881	c.7465G>A	c.(7465-7467)Gtg>Atg	p.V2489M	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2489					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.V2489M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGTTCAGCACGGTGACAATG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											123.0	120.0	121.0					12																	26553126		1922	4129	6051	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7465G>A	12.37:g.26553126C>T	ENSP00000370744:p.Val2489Met	Somatic		WXS	Illumina HiSeq	Phase_I	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049365	0.55218	.	.	ENSG00000123104	ENST00000381340	D	0.98617	-5.03	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98798	0.9595	M	0.62266	1.93	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.99346	1.0913	10	0.51188	T	0.08	.	17.8507	0.88746	0.0:1.0:0.0:0.0	.	2489	Q14571	ITPR2_HUMAN	M	2489	ENSP00000370744:V2489M	ENSP00000370744:V2489M	V	-	1	0	ITPR2	26444393	1.000000	0.71417	0.218000	0.23776	0.063000	0.16089	7.143000	0.77348	2.508000	0.84585	0.563000	0.77884	GTG		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223	
KIAA1210	57481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118217056	118217056	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:118217056G>C	ENST00000402510.2	-	13	4875	c.4876C>G	c.(4876-4878)Cct>Gct	p.P1626A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1626								p.P1626A(1)|p.P1450A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATCTTTTTAGGTTGGTTTTCA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											204.0	172.0	182.0					X																	118217056		1881	4099	5980	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4876C>G	X.37:g.118217056G>C	ENSP00000384670:p.Pro1626Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.287|6.287	0.421046|0.421046	0.11928|0.11928	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10005|.	2.92|.	5.07|5.07	-4.8|-4.8	0.03190|0.03190	.|.	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|T	0.26121|0.26121	-1.0112|-1.0112	9|5	0.36615|.	T|.	0.2|.	.|.	1.9351|1.9351	0.03335|0.03335	0.3421:0.3495:0.1886:0.1198|0.3421:0.3495:0.1886:0.1198	.|.	1626|.	Q9ULL0|.	K1210_HUMAN|.	A|S	1626|1032	ENSP00000384670:P1626A|.	ENSP00000384670:P1626A|.	P|T	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118101084|118101084	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.192000|-1.192000	0.03052|0.03052	-1.332000|-1.332000	0.02249|0.02249	-0.319000|-0.319000	0.08680|0.08680	CCT|ACC		0.388	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2		NM_020721	
KIF15	56992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	44847461	44847461	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:44847461C>T	ENST00000326047.4	+	16	2103	c.1954C>T	c.(1954-1956)Cat>Tat	p.H652Y	KIF15_ENST00000425755.1_Missense_Mutation_p.H287Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	652					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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.H652Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATAAAATTCATGCTGAAAC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											71.0	77.0	75.0					3																	44847461		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1954C>T	3.37:g.44847461C>T	ENSP00000324020:p.His652Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840312	0.91117	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.55760	0.5;0.5;0.5	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000061	T	0.71108	0.3301	M	0.73598	2.24	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	P;D	0.63957	0.852;0.92	T	0.68409	-0.5416	10	0.32370	T	0.25	.	19.308	0.94171	0.0:1.0:0.0:0.0	.	287;652	C9JKA9;Q9NS87	.;KIF15_HUMAN	Y	652;424;651;287	ENSP00000324020:H652Y;ENSP00000425499:H424Y;ENSP00000389982:H287Y	ENSP00000324020:H652Y	H	+	1	0	KIF15	44822465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.411000	0.80078	2.640000	0.89533	0.655000	0.94253	CAT		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			
KIF21A	55605	hgsc.bcm.edu	37	12	39726836	39726836	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:39726836G>C	ENST00000361418.5	-	19	2576	c.2561C>G	c.(2560-2562)tCa>tGa	p.S854*	KIF21A_ENST00000395670.3_Nonsense_Mutation_p.S854*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S818*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S841*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S841*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	854					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCATCAGATGAACTCAGCTT	0.502																																																	0													93.0	86.0	89.0					12																	39726836		2203	4300	6503	SO:0001587	stop_gained	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2561C>G	12.37:g.39726836G>C	ENSP00000354878:p.Ser854*	Somatic		WXS	Illumina HiSeq	Phase_I	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.163222|3.163222	0.57476|0.57476	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.38|5.38	4.49|4.49	0.54785|0.54785	.|.	.|0.452476	.|0.16898	.|N	.|0.195020	T|.	0.31263|.	0.0791|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36040|.	-0.9764|.	3|.	.|0.12430	.|T	.|0.62	.|.	6.534|6.534	0.22341|0.22341	0.3122:0.0:0.6878:0.0|0.3122:0.0:0.6878:0.0	.|.	.|.	.|.	.|.	D|X	202|841;854;854;841;854;818	.|.	.|ENSP00000344501:S854X	H|S	-|-	1|2	0|0	KIF21A|KIF21A	38013103|38013103	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.866000|0.866000	0.49608|0.49608	3.520000|3.520000	0.53465|0.53465	1.267000|1.267000	0.44247|0.44247	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.502	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641	
KRTAP13-1	140258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31768458	31768458	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr21:31768458C>T	ENST00000355459.2	+	1	67	c.54C>T	c.(52-54)taC>taT	p.Y18Y		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	18						intermediate filament (GO:0005882)		p.Y18Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGTGGCTACCTGCACTACC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											176.0	157.0	163.0					21																	31768458		2203	4300	6503	SO:0001819	synonymous_variant	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.54C>T	21.37:g.31768458C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	CCDS13590.2																																																																																				0.557	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			
LILRA3	11026	broad.mit.edu;hgsc.bcm.edu	37	19	54803946	54803946	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr19:54803946C>T	ENST00000251390.3	-	2	158	c.67G>A	c.(67-69)Gca>Aca	p.A23T	LILRA3_ENST00000391745.1_Missense_Mutation_p.A40T|LILRA3_ENST00000391744.3_Missense_Mutation_p.A23T	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	23					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.A23T(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCACCTGCCTGCACGTGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											82.0	72.0	76.0					19																	54803946		2193	4164	6357	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.67G>A	19.37:g.54803946C>T	ENSP00000251390:p.Ala23Thr	Somatic		WXS	Illumina HiSeq	Phase_I	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743410	0.30865	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00678	5.9;5.9;5.87	2.5	-4.99	0.03010	Immunoglobulin-like fold (1);	0.506830	0.16440	N	0.214330	T	0.00608	0.0020	L	0.39514	1.22	0.09310	N	0.999997	B;B	0.31077	0.307;0.038	B;B	0.29524	0.103;0.082	T	0.43572	-0.9383	10	0.40728	T	0.16	.	1.9723	0.03409	0.2897:0.1759:0.4091:0.1252	.	23;23	E7EU74;Q8N6C8	.;LIRA3_HUMAN	T	23;23;40	ENSP00000251390:A23T;ENSP00000375624:A23T;ENSP00000375625:A40T	ENSP00000251390:A23T	A	-	1	0	LILRA3	59495758	0.001000	0.12720	0.048000	0.18961	0.719000	0.41307	-1.373000	0.02568	-1.498000	0.01824	0.485000	0.47835	GCA		0.632	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			
LIPN	643418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90534901	90534901	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:90534901A>C	ENST00000404459.1	+	8	944	c.944A>C	c.(943-945)aAt>aCt	p.N315T		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	315					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.N315T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GACGCTGATAATATGAAACAT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											64.0	52.0	56.0					10																	90534901		1754	3927	5681	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.944A>C	10.37:g.90534901A>C	ENSP00000383923:p.Asn315Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579914	0.46006	.	.	ENSG00000204020	ENST00000404459	T	0.72282	-0.64	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000002	D	0.88764	0.6525	H	0.96916	3.905	0.42524	D	0.99301	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	-25.5721	12.6671	0.56848	1.0:0.0:0.0:0.0	.	315	Q5VXI9	LIPN_HUMAN	T	315	ENSP00000383923:N315T	ENSP00000383923:N315T	N	+	2	0	LIPN	90524881	1.000000	0.71417	0.871000	0.34182	0.315000	0.28087	5.795000	0.69074	2.186000	0.69663	0.459000	0.35465	AAT		0.333	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2		XM_926751	
LRRC16A	55604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25285102	25285102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:25285102G>T	ENST00000329474.6	+	2	471	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	Y_RNA_ENST00000384556.1_RNA|LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	35					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.E35*(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTAAAGTTGGAAGTTAAGGG	0.264																																																	2	Substitution - Nonsense(2)	kidney(2)											92.0	92.0	92.0					6																	25285102		1809	4065	5874	SO:0001587	stop_gained	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.103G>T	6.37:g.25285102G>T	ENSP00000331983:p.Glu35*	Somatic		WXS	Illumina HiSeq	Phase_I	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	38	7.095229	0.98059	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2952	0.90143	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000331983:E35X	E	+	1	0	LRRC16A	25393081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.229000	0.78088	2.679000	0.91253	0.650000	0.86243	GAA		0.264	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640	
MED13L	23389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	116409971	116409971	+	Missense_Mutation	SNP	C	C	T	rs554093251	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:116409971C>T	ENST00000281928.3	-	26	6008	c.5802G>A	c.(5800-5802)atG>atA	p.M1934I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1934						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.M1934I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGATTCCACACATCCGGCACA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		18520	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)											128.0	120.0	123.0					12																	116409971		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5802G>A	12.37:g.116409971C>T	ENSP00000281928:p.Met1934Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.265459|5.265459	0.95399|0.95399	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	T|.	0.74737|.	-0.87|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.037711|.	0.85682|.	D|.	0.000000|.	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	B|.	0.29481|.	0.245|.	B|.	0.31946|.	0.138|.	T|T	0.76255|0.76255	-0.3026|-0.3026	10|5	0.62326|.	D|.	0.03|.	.|.	18.3134|18.3134	0.90208|0.90208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1934|.	Q71F56|.	MD13L_HUMAN|.	I|M	1934|139	ENSP00000281928:M1934I|.	ENSP00000281928:M1934I|.	M|V	-|-	3|1	0|0	MED13L|MED13L	114894354|114894354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.628000|5.628000	0.67791|0.67791	2.631000|2.631000	0.89168|0.89168	0.563000|0.563000	0.77884|0.77884	ATG|GTG		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			
MIPOL1	145282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	37777677	37777677	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:37777677G>A	ENST00000327441.7	+	10	1247	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	MIPOL1_ENST00000556451.1_Missense_Mutation_p.E230K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E230K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E261K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.E80K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E261K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E230K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	261						nucleus (GO:0005634)		p.E261K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AATAACTGCAGAAGAAATGAG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											122.0	122.0	122.0					14																	37777677		2203	4300	6503	SO:0001583	missense	145282			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.781G>A	14.37:g.37777677G>A	ENSP00000333539:p.Glu261Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315316	0.81358	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56611	0.47;0.48;0.45;0.47;0.47;0.45	5.65	5.65	0.86999	.	0.053340	0.64402	D	0.000001	T	0.74473	0.3721	M	0.74881	2.28	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76236	-0.3033	10	0.72032	D	0.01	-11.9499	19.7072	0.96079	0.0:0.0:1.0:0.0	.	261;230	Q8TD10;Q49AL5	MIPO1_HUMAN;.	K	261;80;230;230;261;261;230	ENSP00000333539:E261K;ENSP00000438319:E230K;ENSP00000450479:E230K;ENSP00000379589:E261K;ENSP00000444254:E261K;ENSP00000442529:E230K	ENSP00000333539:E261K	E	+	1	0	MIPOL1	36847428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.474000	0.81024	2.662000	0.90505	0.591000	0.81541	GAA		0.358	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731	
MKL2	57496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14328057	14328057	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:14328057G>A	ENST00000341243.5	+	7	715	c.715G>A	c.(715-717)Gat>Aat	p.D239N	MKL2_ENST00000572567.1_Missense_Mutation_p.D239N|MKL2_ENST00000571589.1_Missense_Mutation_p.D250N|MKL2_ENST00000574045.1_Missense_Mutation_p.D250N|MKL2_ENST00000573051.1_Missense_Mutation_p.D199N|MKL2_ENST00000318282.5_Missense_Mutation_p.D250N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	239					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D250N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAACTGCAGATCAGCCTCC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											137.0	125.0	129.0					16																	14328057		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.715G>A	16.37:g.14328057G>A	ENSP00000345841:p.Asp239Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431476	0.62844	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.91	5.91	0.95273	.	0.394695	0.30093	N	0.010440	T	0.56292	0.1975	N	0.24115	0.695	0.50467	D	0.999877	P;D;P;P	0.59767	0.925;0.986;0.704;0.949	P;P;B;P	0.53266	0.691;0.722;0.255;0.544	T	0.50906	-0.8772	9	0.28530	T	0.3	-20.5493	17.4523	0.87595	0.0:0.0:1.0:0.0	.	199;250;239;250	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	N	250;239;239	.	ENSP00000339086:D250N	D	+	1	0	MKL2	14235558	1.000000	0.71417	0.963000	0.40424	0.790000	0.44656	7.418000	0.80167	2.813000	0.96785	0.655000	0.94253	GAT		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49444338	49444338	+	Silent	SNP	C	C	T	rs373881433		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:49444338C>T	ENST00000301067.7	-	11	3032	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1011	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P1011P(1)|p.P738P(1)									TGGGAGAAGCCGGCCCCACTG	0.612																																																	2	Substitution - coding silent(2)	kidney(2)						C		1,3993		0,1,1996	55.0	63.0	61.0		3033	-2.0	0.0	12		61	1,8339		0,1,4169	no	coding-synonymous	MLL2	NM_003482.3		0,2,6165	TT,TC,CC		0.012,0.025,0.0162		1011/5538	49444338	2,12332	1997	4170	6167	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3033G>A	12.37:g.49444338C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60164088	60164088	+	Missense_Mutation	SNP	G	G	A	rs371634910		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:60164088G>A	ENST00000300187.6	+	1	314	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	MS4A14_ENST00000531783.1_Missense_Mutation_p.V13I|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.V13I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	13						integral component of membrane (GO:0016021)		p.V13I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGCAACTCACGTCATCACTAT	0.458																																																	1	Substitution - Missense(1)	kidney(1)						G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	127.0	100.0	109.0		37,37	2.0	0.0	11		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MS4A14	NM_001079692.1,NM_032597.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	13/663,13/680	60164088	1,13005	2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.37G>A	11.37:g.60164088G>A	ENSP00000300187:p.Val13Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424124	0.25639	0.0	1.16E-4	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.37752	2.55;1.18;1.36;2.86	4.85	1.97	0.26223	.	1.095230	0.06921	N	0.809451	T	0.21801	0.0525	N	0.19112	0.55	0.09310	N	0.999998	P;P	0.41041	0.73;0.736	B;B	0.36922	0.236;0.168	T	0.14839	-1.0458	10	0.41790	T	0.15	-1.0279	4.383	0.11304	0.1852:0.0:0.6376:0.1771	.	13;13	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	13	ENSP00000300187:V13I;ENSP00000378453:V13I;ENSP00000435764:V13I;ENSP00000433761:V13I	ENSP00000300187:V13I	V	+	1	0	MS4A14	59920664	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.091000	0.15046	0.257000	0.21650	-0.169000	0.13324	GTC		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			
MMP7	4316	hgsc.bcm.edu	37	11	102394122	102394122	+	Silent	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:102394122G>A	ENST00000260227.4	-	5	676	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	208					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	CAGCATACAGGAAGTTAATCC	0.348																																																	0													93.0	86.0	88.0					11																	102394122		2203	4299	6502	SO:0001819	synonymous_variant	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.624C>T	11.37:g.102394122G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTK9	Silent	SNP	ENST00000260227.4	37	CCDS8317.1																																																																																				0.348	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			
MYO1G	64005	broad.mit.edu;ucsc.edu	37	7	45005737	45005737	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:45005737T>A	ENST00000258787.7	-	16	2228	c.2092A>T	c.(2092-2094)Aca>Tca	p.T698S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	698	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T698S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GTGACCAGTGTCCGGGGTGAG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											87.0	78.0	81.0					7																	45005737		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2092A>T	7.37:g.45005737T>A	ENSP00000258787:p.Thr698Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569980	0.65765	.	.	ENSG00000136286	ENST00000258787	T	0.71934	-0.61	4.54	3.37	0.38596	Myosin head, motor domain (1);	0.000000	0.41938	D	0.000786	T	0.81202	0.4773	M	0.85630	2.765	0.50039	D	0.999848	D	0.60160	0.987	P	0.59825	0.864	T	0.81795	-0.0769	10	0.87932	D	0	.	9.2249	0.37400	0.0:0.0887:0.0:0.9113	.	698	B0I1T2	MYO1G_HUMAN	S	698	ENSP00000258787:T698S	ENSP00000258787:T698S	T	-	1	0	MYO1G	44972262	0.995000	0.38212	0.059000	0.19551	0.863000	0.49368	2.441000	0.44864	0.689000	0.31550	0.459000	0.35465	ACA		0.642	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			
MUC12	10071	hgsc.bcm.edu;ucsc.edu	37	7	100634674	100634674	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:100634674C>A	ENST00000379442.3	+	5	1259	c.1259C>A	c.(1258-1260)aCc>aAc	p.T420N	MUC12_ENST00000536621.1_Missense_Mutation_p.T277N			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	420	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAACCTACCACCTTCCAGAGC	0.547																																																	0													125.0	110.0	114.0					7																	100634674		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1259C>A	7.37:g.100634674C>A	ENSP00000368755:p.Thr420Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	ENST00000379442.3	37		.	.	.	.	.	.	.	.	.	.	-	5.050	0.194842	0.09599	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	0.713	-1.43	0.08884	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37314	-0.9711	7	0.30854	T	0.27	.	3.3248	0.07063	0.0:0.4932:0.2691:0.2377	.	.	.	.	N	420;277	ENSP00000368755:T420N;ENSP00000441929:T277N	ENSP00000368755:T420N	T	+	2	0	MUC12	100421394	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.523000	0.06230	-1.029000	0.03317	0.184000	0.17185	ACC		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347234.1		XM_379904	
NBEA	26960	broad.mit.edu;hgsc.bcm.edu	37	13	36046544	36046544	+	Silent	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:36046544G>T	ENST00000400445.3	+	41	6990	c.6456G>T	c.(6454-6456)gtG>gtT	p.V2152V	NBEA_ENST00000379939.2_Silent_p.V2149V|NBEA_ENST00000310336.4_Silent_p.V2152V|NBEA_ENST00000540320.1_Silent_p.V2152V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2152					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.V2152V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGGCCCAGTGGTTCTCAGCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	59.0	58.0					13																	36046544		1993	4159	6152	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6456G>T	13.37:g.36046544G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.577	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678	
NDUFAF1	51103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41689026	41689026	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:41689026G>C	ENST00000260361.4	-	2	613	c.232C>G	c.(232-234)Cct>Gct	p.P78A		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	78					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.P78A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTAACATCAGGCTTCTCCTCA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											132.0	137.0	135.0					15																	41689026		2203	4300	6503	SO:0001583	missense	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.232C>G	15.37:g.41689026G>C	ENSP00000260361:p.Pro78Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	0.535	-0.856022	0.02630	.	.	ENSG00000137806	ENST00000260361	T	0.59224	0.28	4.77	2.48	0.30137	.	0.209271	0.48286	D	0.000191	T	0.43523	0.1251	L	0.50919	1.6	0.24475	N	0.994375	B	0.18610	0.029	B	0.16289	0.015	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.4596	10.0084	0.41970	0.0:0.0:0.4535:0.5465	.	78	Q9Y375	CIA30_HUMAN	A	78	ENSP00000260361:P78A	ENSP00000260361:P78A	P	-	1	0	NDUFAF1	39476318	0.790000	0.28787	0.849000	0.33467	0.063000	0.16089	1.811000	0.38942	1.106000	0.41623	0.456000	0.33151	CCT		0.428	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2		NM_016013	
NRD1	4898	hgsc.bcm.edu	37	1	52306082	52306082	+	Missense_Mutation	SNP	A	A	T	rs62639317		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:52306082A>T	ENST00000354831.7	-	2	635	c.446T>A	c.(445-447)gTg>gAg	p.V149E	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.V17E|NRD1_ENST00000539524.1_Missense_Mutation_p.V17E|NRD1_ENST00000352171.7_Missense_Mutation_p.V149E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcctccacctcctcttc	0.378																																																	0													157.0	133.0	141.0					1																	52306082		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.446T>A	1.37:g.52306082A>T	ENSP00000346890:p.Val149Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.215253	0.00289	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.28069	1.63;3.68;1.81;1.69	5.57	4.43	0.53597	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.712002	0.13833	N	0.359629	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27434	-1.0074	10	0.02654	T	1	-4.1153	9.7675	0.40570	0.2844:0.0:0.0:0.7156	rs62639317	149;149;149	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	E	149;149;17;149;17	ENSP00000262679:V149E;ENSP00000346890:V149E;ENSP00000444416:V17E;ENSP00000442262:V17E	ENSP00000262679:V149E	V	-	2	0	NRD1	52078670	0.296000	0.24398	0.018000	0.16275	0.061000	0.15899	1.612000	0.36889	0.922000	0.37019	-0.542000	0.04241	GTG		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525	
OR4P4	81300	broad.mit.edu;ucsc.edu	37	11	55406555	55406555	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:55406555A>G	ENST00000314612.2	+	1	722	c.722A>G	c.(721-723)cAt>cGt	p.H241R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H241R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGTAGTTCTCATGTAATTGTT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											215.0	155.0	176.0					11																	55406555		2182	4032	6214	SO:0001583	missense	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.722A>G	11.37:g.55406555A>G	ENSP00000324831:p.His241Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769934	0.49680	.	.	ENSG00000181927	ENST00000314612	T	0.00311	8.15	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000702	T	0.01287	0.0042	H	0.98155	4.16	0.49389	D	0.999789	D	0.67145	0.996	D	0.76575	0.988	T	0.15037	-1.0451	10	0.87932	D	0	-11.937	13.5908	0.61959	1.0:0.0:0.0:0.0	.	241	Q8NGL7	OR4P4_HUMAN	R	241	ENSP00000324831:H241R	ENSP00000324831:H241R	H	+	2	0	OR4P4	55163131	0.962000	0.33011	0.518000	0.27811	0.063000	0.16089	5.133000	0.64764	2.082000	0.62665	0.519000	0.50382	CAT		0.378	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1		NM_001004124	
PKD2L1	9033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102056953	102056953	+	Missense_Mutation	SNP	C	C	A	rs575876129		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:102056953C>A	ENST00000318222.3	-	6	1351	c.969G>T	c.(967-969)gaG>gaT	p.E323D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E323D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E248D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	323					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E323D(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGCTGGAAACTCCACCACCA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											72.0	69.0	70.0					10																	102056953		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.969G>T	10.37:g.102056953C>A	ENSP00000325296:p.Glu323Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904462	0.72868	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80994	-1.44;-1.44;-1.44	5.27	4.37	0.52481	Polycystin cation channel, PKD1/PKD2 (1);	0.113795	0.64402	D	0.000005	D	0.89698	0.6790	M	0.88031	2.925	0.46149	D	0.998892	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90234	0.4281	10	0.72032	D	0.01	-24.5505	9.184	0.37158	0.0:0.8375:0.0:0.1625	.	276;323	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	248;323;323;323	ENSP00000345068:E248D;ENSP00000266049:E323D;ENSP00000325296:E323D	ENSP00000325296:E323D	E	-	3	2	PKD2L1	102046943	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.389000	0.20751	1.438000	0.47492	0.561000	0.74099	GAG		0.597	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112	
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51747999	51747999	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:51747999C>A	ENST00000371117.3	-	46	7517	c.7242G>T	c.(7240-7242)ctG>ctT	p.L2414L	PKHD1_ENST00000340994.4_Silent_p.L2414L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2414					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAGTTTTTCAGGCGAAGAT	0.353																																																	0													61.0	60.0	60.0					6																	51747999		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7242G>T	6.37:g.51747999C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
BACE2	25825	hgsc.bcm.edu	37	21	42551103	42551104	+	Intron	INS	-	-	C	rs560158388	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr21:42551103_42551104insC	ENST00000330333.6	+	1	775				PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000347667.5_Intron|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTGAGGGTGTCAGGGTGAGGA	0.624													|||unknown(LONG_INSERTION)	287	0.0573083	0.1974	0.013	5008	,	,		18587	0.004		0.008	False		,,,				2504	0.0051																0																																										SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10601->C	21.37:g.42551104_42551104dupC		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	INS	ENST00000330333.6	37	CCDS13668.1																																																																																				0.624	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			
PLCB3	5331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64029901	64029901	+	Silent	SNP	G	G	A	rs372858684		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:64029901G>A	ENST00000540288.1	+	18	2164	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	PLCB3_ENST00000279230.6_Silent_p.A687A|PLCB3_ENST00000325234.5_Silent_p.A620A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	687	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.A687A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCTCAACGCGGGCGTTTTTG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)						G	,	1,4401	2.1+/-5.4	0,1,2200	80.0	89.0	86.0		2061,1860	-10.7	0.2	11		86	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	PLCB3	NM_000932.2,NM_001184883.1	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	687/1235,620/1168	64029901	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2061G>A	11.37:g.64029901G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																				0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			
PXDN	7837	broad.mit.edu;ucsc.edu	37	2	1652062	1652062	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:1652062C>T	ENST00000252804.4	-	17	3540	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1164					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1164N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCCCGTGGTCCCGGCCCCGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											81.0	92.0	88.0					2																	1652062		2027	4209	6236	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3490G>A	2.37:g.1652062C>T	ENSP00000252804:p.Asp1164Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148660	0.94603	.	.	ENSG00000130508	ENST00000252804	T	0.73469	-0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94936	0.8087	10	0.87932	D	0	-61.2495	19.6424	0.95763	0.0:1.0:0.0:0.0	.	1164	Q92626	PXDN_HUMAN	N	1164	ENSP00000252804:D1164N	ENSP00000252804:D1164N	D	-	1	0	PXDN	1631069	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.734000	0.84928	2.645000	0.89757	0.650000	0.86243	GAC		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
RBM20	282996	broad.mit.edu;hgsc.bcm.edu	37	10	112540834	112540834	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:112540834C>T	ENST00000369519.3	+	2	525	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	156					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A156V(1)		autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CCCCAACATGCTGCAGCCATA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											41.0	43.0	43.0					10																	112540834		692	1591	2283	SO:0001583	missense	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.467C>T	10.37:g.112540834C>T	ENSP00000358532:p.Ala156Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	ENST00000369519.3	37	CCDS44477.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483443	0.26598	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	D	0.91464	-2.85	5.21	4.3	0.51218	.	0.371244	0.27371	N	0.019664	T	0.81754	0.4889	N	0.19112	0.55	0.29285	N	0.869754	P	0.42827	0.791	B	0.32677	0.15	T	0.78623	-0.2132	10	0.62326	D	0.03	.	14.4676	0.67494	0.0:0.5405:0.4595:0.0	.	156	Q5T481	RBM20_HUMAN	V	156	ENSP00000358532:A156V	ENSP00000358532:A156V	A	+	2	0	RBM20	112530824	0.994000	0.37717	0.840000	0.33206	0.077000	0.17291	4.093000	0.57714	1.176000	0.42840	0.655000	0.94253	GCT		0.592	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2		NM_001134363	
RBM39	9584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34312531	34312531	+	Silent	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr20:34312531T>C	ENST00000253363.6	-	8	671	c.648A>G	c.(646-648)caA>caG	p.Q216Q	RBM39_ENST00000528062.3_Silent_p.Q194Q|RBM39_ENST00000361162.6_Silent_p.Q216Q|RBM39_ENST00000407261.4_Silent_p.Q59Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39	216	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q216Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTAAAACTCGTTGGCCAGTTA	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	130.0	135.0					20																	34312531		2203	4300	6503	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.648A>G	20.37:g.34312531T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	9.786	1.176533	0.21704	.	.	ENSG00000131051	ENST00000448303	.	.	.	5.36	-4.18	0.03846	.	.	.	.	.	T	0.68357	0.2992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69932	-0.5011	4	.	.	.	.	18.2614	0.90037	0.0:0.7688:0.0:0.2312	.	.	.	.	A	89	.	.	T	-	1	0	RBM39	33775945	0.999000	0.42202	0.958000	0.39756	0.986000	0.74619	0.674000	0.25218	-0.689000	0.05149	-0.385000	0.06624	ACG		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2		NM_184237	
RCBTB2	1102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49084795	49084795	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:49084795T>A	ENST00000344532.3	-	10	1319	c.896A>T	c.(895-897)tAt>tTt	p.Y299F	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y304F|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000481144.1_5'Flank	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	299					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Y299F(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AGGAGTAGGATAGGACTGGTT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											135.0	122.0	127.0					13																	49084795		2203	4300	6503	SO:0001583	missense	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.896A>T	13.37:g.49084795T>A	ENSP00000345144:p.Tyr299Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424011	0.25639	.	.	ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805	D;D	0.85013	-1.93;-1.93	5.58	4.41	0.53225	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.242073	0.43416	D	0.000575	T	0.67748	0.2926	N	0.04387	-0.21	0.80722	D	1	B;B	0.34181	0.147;0.44	B;B	0.36030	0.216;0.216	T	0.62909	-0.6754	10	0.10636	T	0.68	.	11.3923	0.49822	0.0:0.0709:0.0:0.9291	.	304;299	B4DWG0;O95199	.;RCBT2_HUMAN	F	299;304;304	ENSP00000345144:Y299F;ENSP00000389910:Y304F	ENSP00000345144:Y299F	Y	-	2	0	RCBTB2	47982796	0.992000	0.36948	1.000000	0.80357	0.978000	0.69477	3.296000	0.51802	0.953000	0.37825	0.533000	0.62120	TAT		0.453	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2		NM_001268	
RDX	5962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110150412	110150412	+	Silent	SNP	C	C	A	rs202177331	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:110150412C>A	ENST00000343115.4	-	2	325	c.6G>T	c.(4-6)ccG>ccT	p.P2P	RDX_ENST00000405097.1_Silent_p.P2P|RDX_ENST00000528900.1_5'UTR|RDX_ENST00000544551.1_5'UTR|RDX_ENST00000530301.1_Silent_p.P2P|RDX_ENST00000528498.1_Silent_p.P2P	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	2					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.P2P(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTACTGGTTTCGGCATTTTCT	0.274																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												1	Substitution - coding silent(1)	kidney(1)											67.0	64.0	65.0					11																	110150412		2198	4296	6494	SO:0001819	synonymous_variant	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.6G>T	11.37:g.110150412C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	CCDS8343.1																																																																																				0.274	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2		NM_002906	
RECQL5	9400	broad.mit.edu;ucsc.edu	37	17	73654527	73654527	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:73654527A>C	ENST00000317905.5	-	7	1159	c.1000T>G	c.(1000-1002)Tgg>Ggg	p.W334G	RECQL5_ENST00000420326.2_Missense_Mutation_p.W334G|RECQL5_ENST00000340830.5_Missense_Mutation_p.W334G|RECQL5_ENST00000584999.1_Missense_Mutation_p.W334G|RECQL5_ENST00000423245.2_Missense_Mutation_p.W307G	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.W307G(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAATATTCCAATGGGCGACA	0.532								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	kidney(1)											109.0	109.0	109.0					17																	73654527		2203	4300	6503	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1000T>G	17.37:g.73654527A>C	ENSP00000317636:p.Trp334Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057379	0.36277	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.74737	-0.87;-0.87;-0.87	5.84	5.84	0.93424	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	D	0.90427	0.4421	10	0.72032	D	0.01	-5.6338	16.2108	0.82158	1.0:0.0:0.0:0.0	.	334;307;334	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	G	334	ENSP00000317636:W334G;ENSP00000414933:W334G;ENSP00000341983:W334G	ENSP00000317636:W334G	W	-	1	0	RECQL5	71166122	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	TGG		0.532	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162696378	162696378	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:162696378A>G	ENST00000446997.1	+	4	450	c.357A>G	c.(355-357)acA>acG	p.T119T	SLC4A10_ENST00000421911.1_Silent_p.T119T|SLC4A10_ENST00000375514.5_Silent_p.T130T|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Silent_p.T119T|SLC4A10_ENST00000535165.1_Silent_p.T119T|SLC4A10_ENST00000272716.5_Silent_p.T119T	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	119					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.T119T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ACCTTTTCACAGAACTGGATG	0.438																																																	2	Substitution - coding silent(2)	kidney(2)											141.0	142.0	142.0					2																	162696378		2122	4254	6376	SO:0001819	synonymous_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.357A>G	2.37:g.162696378A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058	
SMO	6608	broad.mit.edu;hgsc.bcm.edu	37	7	128845209	128845209	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:128845209G>A	ENST00000249373.3	+	3	983	c.703G>A	c.(703-705)Gcg>Acg	p.A235T		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	235					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A235T(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CAGCTACATCGCGGCCTTCGG	0.677			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											36.0	36.0	36.0					7																	128845209		2203	4300	6503	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.703G>A	7.37:g.128845209G>A	ENSP00000249373:p.Ala235Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414238	0.96092	.	.	ENSG00000128602	ENST00000249373	D	0.84070	-1.8	5.75	5.75	0.90469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90597	0.4541	10	0.62326	D	0.03	.	18.9302	0.92561	0.0:0.0:1.0:0.0	.	235	Q99835	SMO_HUMAN	T	235	ENSP00000249373:A235T	ENSP00000249373:A235T	A	+	1	0	SMO	128632445	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.791000	0.99081	2.720000	0.93068	0.555000	0.69702	GCG		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631	
SOX9	6662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	70120330	70120330	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:70120330C>A	ENST00000245479.2	+	3	1704	c.1332C>A	c.(1330-1332)gaC>gaA	p.D444E		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	444					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D444E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTACACCGACCACCAGAACT	0.627																																					Pancreas(42;83 1041 2320 35205 39456)												1	Substitution - Missense(1)	kidney(1)											224.0	203.0	210.0					17																	70120330		2203	4300	6503	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1332C>A	17.37:g.70120330C>A	ENSP00000245479:p.Asp444Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267332	0.40095	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.98835	-5.17	4.26	2.21	0.28008	.	0.110340	0.64402	N	0.000011	D	0.95300	0.8475	L	0.28054	0.825	0.37314	D	0.909254	B	0.06786	0.001	B	0.08055	0.003	D	0.91505	0.5222	10	0.40728	T	0.16	.	9.806	0.40792	0.1422:0.4452:0.4126:0.0	.	444	P48436	SOX9_HUMAN	E	444;380	ENSP00000245479:D444E	ENSP00000245479:D444E	D	+	3	2	SOX9	67631925	0.971000	0.33674	0.950000	0.38849	0.984000	0.73092	0.458000	0.21892	0.362000	0.24319	0.455000	0.32223	GAC		0.627	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1		NM_000346	
SPTBN5	51332	hgsc.bcm.edu	37	15	42178134	42178135	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:42178134_42178135delCT	ENST00000320955.6	-	7	1545_1546	c.1318_1319delAG	c.(1318-1320)agtfs	p.S440fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	440					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTAAGGAAACTCTCCCGGAGG	0.663																																																	0																																										SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1318_1319delAG	15.37:g.42178136_42178137delCT	ENSP00000317790:p.Ser440fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000320955.6	37																																																																																					0.663	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642	
TMEM165	55858	hgsc.bcm.edu;ucsc.edu	37	4	56284067	56284067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:56284067delT	ENST00000381334.5	+	4	940	c.707delT	c.(706-708)attfs	p.I236fs	TMEM165_ENST00000542052.1_Frame_Shift_Del_p.I173fs|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	236					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ATTTCACCCATTTTTGTTCAA	0.383																																																	0													112.0	110.0	111.0					4																	56284067		2203	4300	6503	SO:0001589	frameshift_variant	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.707delT	4.37:g.56284067delT	ENSP00000370736:p.Ile236fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Frame_Shift_Del	DEL	ENST00000381334.5	37	CCDS3499.1																																																																																				0.383	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4		NM_018475	
TMOD1	7111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100326390	100326390	+	Silent	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr9:100326390G>A	ENST00000259365.4	+	6	771	c.558G>A	c.(556-558)acG>acA	p.T186T	TMOD1_ENST00000375175.1_Silent_p.T59T|TMOD1_ENST00000395211.2_Silent_p.T186T	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	186					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.T186T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAGAGGAAACGCTGGAACGGA	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											121.0	98.0	106.0					9																	100326390		2203	4300	6503	SO:0001819	synonymous_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.558G>A	9.37:g.100326390G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	CCDS6726.1																																																																																				0.463	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2		NM_003275	
TRUB2	26995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131077879	131077879	+	Silent	SNP	G	G	A	rs548857483	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr9:131077879G>A	ENST00000372890.4	-	4	678	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TRUB2_ENST00000546104.1_Silent_p.L59L|TRUB2_ENST00000460320.1_5'UTR|RP11-339B21.13_ENST00000609315.1_RNA	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	115					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L115L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TATCGGTGAGGAGCCTGCATC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		12821	0.002		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											87.0	65.0	72.0					9																	131077879		2203	4300	6503	SO:0001819	synonymous_variant	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.345C>T	9.37:g.131077879G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7G5	Silent	SNP	ENST00000372890.4	37	CCDS6897.1																																																																																				0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1		NM_015679	
TSPYL6	388951	hgsc.bcm.edu	37	2	54482704	54482709	+	In_Frame_Del	DEL	GGGCCC	GGGCCC	-	rs76397255|rs398060196	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	GGGCCC	GGGCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:54482704_54482709delGGGCCC	ENST00000317802.7	-	1	700_705	c.580_585delGGGCCC	c.(580-585)gggcccdel	p.GP194del	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	194					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCACGTTCAGGGGCCCGGGCCCGGGC	0.626														798	0.159345	0.1921	0.111	5008	,	,		19038	0.1865		0.1143	False		,,,				2504	0.1677																0									,	65,738,2585		2,12,49,141,444,1046					,	0.3	0.0		dbSNP_134	31	3,1183,6334		0,1,2,162,858,2737	no	intron,codingComplex	ACYP2,TSPYL6	NM_138448.3,NM_001003937.2	,	2,13,51,303,1302,3783	A1A1,A1A2,A1R,A2A2,A2R,RR		15.7713,23.7013,18.2343	,	,		68,1921,8919				SO:0001651	inframe_deletion	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.580_585delGGGCCC	2.37:g.54482710_54482715delGGGCCC	ENSP00000417919:p.Gly194_Pro195del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NUJ3	In_Frame_Del	DEL	ENST00000317802.7	37	CCDS42682.1																																																																																				0.626	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3		XM_371494	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179404327	179404327	+	Missense_Mutation	SNP	T	T	G	rs191054704		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:179404327T>G	ENST00000591111.1	-	302	93766	c.93542A>C	c.(93541-93543)gAt>gCt	p.D31181A	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23882A|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23757A|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23949A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30254A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32822A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31181	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.D30254A(1)|p.D23882A(1)|p.D30252A(1)|p.D23757A(1)|p.D23949A(1)		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)			ACCACCATCATCAGCAGGAGG	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		21412	0.001		0.0	False		,,,				2504	0.0																5	Substitution - Missense(5)	kidney(5)											158.0	152.0	154.0					2																	179404327		2091	4204	6295	SO:0001583	missense	7273			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.93542A>C	2.37:g.179404327T>G	ENSP00000465570:p.Asp31181Ala	Somatic		WXS	Illumina HiSeq	Phase_I	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	Missense_Mutation	SNP	ENST00000591111.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	18.71	3.681750	0.68042	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69342	0.3100	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74788	-0.3546	9	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	23757;23882;23949;31181	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	30254;23757;23949;23882;23754	ENSP00000343764:D30254A;ENSP00000434586:D23757A;ENSP00000340554:D23949A;ENSP00000352154:D23882A	ENSP00000340554:D23949A	D	-	2	0	TTN	179112573	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	GAT		0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UGT2A1	10941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70460937	70460937	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:70460937C>T	ENST00000503640.1	-	4	1082	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UGT2A1_ENST00000286604.4_Missense_Mutation_p.A343T|UGT2A1_ENST00000514019.1_Missense_Mutation_p.A509T|UGT2A2_ENST00000457664.2_Missense_Mutation_p.A352T|UGT2A1_ENST00000512704.1_Missense_Mutation_p.A299T|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	343					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A352T(1)|p.A343T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTAATGTGGCTGGTTTCTTT	0.378																																																	2	Substitution - Missense(2)	kidney(2)											138.0	129.0	132.0					4																	70460937		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1027G>A	4.37:g.70460937C>T	ENSP00000424478:p.Ala343Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487168	0.26686	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.23	4.39	0.52855	.	0.851504	0.10369	N	0.683033	T	0.52757	0.1754	L	0.33710	1.025	.	.	.	B;B;B;B;B	0.32862	0.028;0.387;0.001;0.047;0.001	B;B;B;B;B	0.39027	0.038;0.288;0.007;0.015;0.007	T	0.60469	-0.7257	9	0.46703	T	0.11	.	12.0233	0.53356	0.0:0.9154:0.0:0.0846	.	509;509;299;352;343	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	T	352;343;299;509;343	ENSP00000387888:A352T;ENSP00000424478:A343T;ENSP00000421432:A299T;ENSP00000425497:A509T;ENSP00000286604:A343T	ENSP00000286604:A343T	A	-	1	0	UGT2A1	70495526	0.264000	0.24093	0.822000	0.32727	0.039000	0.13416	1.401000	0.34589	1.353000	0.45828	0.549000	0.68633	GCC		0.378	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3		NM_006798	
ZBTB16	7704	broad.mit.edu;ucsc.edu	37	11	113934420	113934420	+	Missense_Mutation	SNP	C	C	T	rs370480903		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:113934420C>T	ENST00000335953.4	+	2	778	c.398C>T	c.(397-399)aCg>aTg	p.T133M	ZBTB16_ENST00000392996.2_Missense_Mutation_p.T133M	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	133					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T133M(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACAATGACACGGAGGCCACC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	42.0	42.0	42.0		398,398	4.6	1.0	11		42	0,8592		0,0,4296	no	missense,missense	ZBTB16	NM_001018011.1,NM_006006.4	81,81	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	133/674,133/674	113934420	1,12993	2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.398C>T	11.37:g.113934420C>T	ENSP00000338157:p.Thr133Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783065	0.31593	2.27E-4	0.0	ENSG00000109906	ENST00000335953;ENST00000535700;ENST00000392996;ENST00000310883	T;T;T	0.75260	2.89;-0.92;2.89	5.53	4.59	0.56863	.	0.499924	0.23354	N	0.049087	T	0.55049	0.1896	N	0.19112	0.55	0.24313	N	0.995075	P;B	0.48350	0.909;0.298	B;B	0.35182	0.197;0.09	T	0.53415	-0.8442	10	0.54805	T	0.06	-4.1747	10.7583	0.46249	0.1576:0.7083:0.1341:0.0	.	133;138	Q05516;Q59H43	ZBT16_HUMAN;.	M	133	ENSP00000338157:T133M;ENSP00000443013:T133M;ENSP00000376721:T133M	ENSP00000309507:T133M	T	+	2	0	ZBTB16	113439630	0.983000	0.35010	0.999000	0.59377	0.909000	0.53808	2.087000	0.41653	1.388000	0.46506	0.561000	0.74099	ACG		0.582	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1		NM_006006	
ZBTB33	10009	hgsc.bcm.edu	37	X	119387833	119387834	+	In_Frame_Ins	INS	-	-	TGA	rs201958171|rs77815464|rs59686094		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:119387833_119387834insTGA	ENST00000326624.2	+	2	791_792	c.563_564insTGA	c.(562-567)tctgat>tcTGAtgat	p.194_195insD	ZBTB33_ENST00000557385.1_In_Frame_Ins_p.194_195insD	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	194					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTACCGATTCtgatgatgatg	0.396														1942	0.514437	0.2065	0.4078	3775	,	,		15520	0.4494		0.5328	False		,,,				2504	0.4059																0																																										SO:0001652	inframe_insertion	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.579_581dupTGA	X.37:g.119387840_119387842dupTGA	ENSP00000314153:p.Asp194_Asp194dup	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Ins	INS	ENST00000326624.2	37	CCDS14596.1																																																																																				0.396	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2		NM_006777	
ZNF684	127396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41007325	41007325	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:41007325G>A	ENST00000372699.3	+	4	432	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372697.3_Missense_Mutation_p.E61K|ZNF684_ENST00000372696.3_Missense_Mutation_p.E61K	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E61K(1)		breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTCAAGGTAGAGCAAGGACA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											116.0	101.0	106.0					1																	41007325		2203	4300	6503	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.181G>A	1.37:g.41007325G>A	ENSP00000361784:p.Glu61Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058208	0.36277	.	.	ENSG00000117010	ENST00000372699;ENST00000372697;ENST00000372696	T;T;T	0.56776	5.38;0.44;0.44	3.84	-0.292	0.12839	Krueppel-associated box (3);	0.810357	0.10059	N	0.721164	T	0.50222	0.1603	M	0.86651	2.83	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.54583	-0.8272	10	0.72032	D	0.01	.	0.9765	0.01426	0.2116:0.1813:0.4207:0.1863	.	61	Q5T5D7	ZN684_HUMAN	K	61	ENSP00000361784:E61K;ENSP00000361782:E61K;ENSP00000361781:E61K	ENSP00000361781:E61K	E	+	1	0	ZNF684	40779912	0.014000	0.17966	0.011000	0.14972	0.273000	0.26683	0.321000	0.19558	-0.038000	0.13624	0.655000	0.94253	GAG		0.498	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3		NM_152373	
ACSBG2	81616	broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr19:6177251T>G	ENST00000586696.1	+	8	1026	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_ENST00000588485.1_Missense_Mutation_p.I63M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.I200M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I250M|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I250M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	250					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.I250M(3)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433																																																	3	Substitution - Missense(3)	endometrium(2)|kidney(1)											97.0	69.0	78.0					19																	6177251		2203	4300	6503	SO:0001583	missense	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.750T>G	19.37:g.6177251T>G	ENSP00000465589:p.Ile250Met	Somatic		WXS	Illumina GAIIx	Phase_I	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.593	0.885063	0.17540	.	.	ENSG00000130377	ENST00000252669	T	0.10477	2.87	4.48	-8.78	0.00824	AMP-dependent synthetase/ligase (1);	1.500690	0.04439	N	0.370611	T	0.03564	0.0102	N	0.03154	-0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.007	T	0.41124	-0.9526	10	0.49607	T	0.09	-6.8573	2.6506	0.04998	0.499:0.0951:0.1226:0.2833	.	250;250	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	M	250	ENSP00000252669:I250M	ENSP00000252669:I250M	I	+	3	3	ACSBG2	6128251	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.884000	0.00342	-1.157000	0.02815	-0.778000	0.03378	ATT		0.433	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1		NM_030924	
C17orf82	388407	broad.mit.edu	37	17	59489871	59489877	+	Frame_Shift_Del	DEL	GGCCTCG	GGCCTCG	-	rs201168857	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	GGCCTCG	GGCCTCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:59489871_59489877delGGCCTCG	ENST00000335108.2	+	1	760_766	c.535_541delGGCCTCG	c.(535-543)ggcctcgggfs	p.GLG179fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	179										cervix(1)|lung(1)	2						AGCCCGCCCAGGCCTCGGGCCTCGGCA	0.734														18	0.00359425	0.0	0.0072	5008	,	,		13586	0.0		0.0099	False		,,,				2504	0.0031																0										15,3697		5,5,1846						-5.8	0.0			6	89,7483		12,65,3709	no	frameshift	C17orf82	NM_203425.1		17,70,5555	A1A1,A1R,RR		1.1754,0.4041,0.9217				104,11180				SO:0001589	frameshift_variant	388407			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.535_541delGGCCTCG	17.37:g.59489878_59489884delGGCCTCG	ENSP00000335229:p.Gly179fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000335108.2	37	CCDS11628.1																																																																																				0.734	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1		NM_203425	
RTP5	285093	broad.mit.edu	37	2	242815348	242815348	+	Missense_Mutation	SNP	G	G	C	rs541145009		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:242815348G>C	ENST00000343216.3	+	2	1669	c.1641G>C	c.(1639-1641)tgG>tgC	p.W547C		NM_173821.2	NP_776182.2												p.W547C(1)									TCTGGATCTGGGTGTCCATGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		10437	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											103.0	114.0	110.0					2																	242815348		2098	4195	6293	SO:0001583	missense	0																														ENST00000343216.3:c.1641G>C	2.37:g.242815348G>C	ENSP00000345374:p.Trp547Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973480	0.53720	.	.	ENSG00000188011	ENST00000343216	T	0.48201	0.82	2.12	-0.00255	0.14029	.	.	.	.	.	T	0.45677	0.1354	N	0.14661	0.345	0.35766	D	0.820534	D	0.76494	0.999	D	0.79784	0.993	T	0.54139	-0.8338	9	0.87932	D	0	-12.531	7.6526	0.28356	0.0:0.5237:0.4763:0.0	.	547	Q14D33	CB085_HUMAN	C	547	ENSP00000345374:W547C	ENSP00000345374:W547C	W	+	3	0	C2orf85	242464021	0.003000	0.15002	0.542000	0.28115	0.849000	0.48306	0.242000	0.18087	0.002000	0.14630	0.186000	0.17326	TGG		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			
CHRM5	1133	broad.mit.edu	37	15	34355731	34355731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:34355731G>A	ENST00000383263.5	+	3	1483	c.813G>A	c.(811-813)tgG>tgA	p.W271*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.W271*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	271					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.W271*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGCCTCCTGGTCATCCTCCC	0.612																																																	1	Substitution - Nonsense(1)	kidney(1)											49.0	49.0	49.0					15																	34355731		2201	4298	6499	SO:0001587	stop_gained	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.813G>A	15.37:g.34355731G>A	ENSP00000372750:p.Trp271*	Somatic		WXS	Illumina GAIIx	Phase_I	Q96RG7	Nonsense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	39	7.465582	0.98302	.	.	ENSG00000184984	ENST00000383263	.	.	.	5.42	5.42	0.78866	.	0.436137	0.25887	N	0.027643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2142	19.4084	0.94658	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000372750:W271X	W	+	3	0	CHRM5	32143023	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	7.793000	0.85851	2.820000	0.97059	0.650000	0.86243	TGG		0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			
RIPPLY3	53820	broad.mit.edu	37	21	38390280	38390280	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr21:38390280T>C	ENST00000329553.2	+	4	556	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	116					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S116P(1)									CGACGATGAGTCTACTGAGTC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											45.0	43.0	44.0					21																	38390280		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.346T>C	21.37:g.38390280T>C	ENSP00000331734:p.Ser116Pro	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960961	0.53400	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.77	3.6	0.41247	.	0.157867	0.43747	D	0.000533	T	0.56790	0.2009	M	0.70275	2.135	0.09310	N	1	D	0.61080	0.989	D	0.63957	0.92	T	0.48019	-0.9071	9	0.49607	T	0.09	.	9.0745	0.36513	0.0:0.0:0.1854:0.8145	.	116	P57055	DSCR6_HUMAN	P	116	.	ENSP00000331734:S116P	S	+	1	0	DSCR6	37312150	0.003000	0.15002	0.018000	0.16275	0.065000	0.16274	0.363000	0.20301	0.912000	0.36772	-0.429000	0.05907	TCT		0.567	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			
DYSF	8291	broad.mit.edu	37	2	71825715	71825715	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:71825715T>C	ENST00000258104.3	+	33	3819	c.3542T>C	c.(3541-3543)tTc>tCc	p.F1181S	DYSF_ENST00000409651.1_Missense_Mutation_p.F1213S|DYSF_ENST00000410020.3_Missense_Mutation_p.F1199S|DYSF_ENST00000394120.2_Missense_Mutation_p.F1182S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.F1198S|DYSF_ENST00000410041.1_Missense_Mutation_p.F1199S|DYSF_ENST00000429174.2_Missense_Mutation_p.F1181S|DYSF_ENST00000413539.2_Missense_Mutation_p.F1212S|DYSF_ENST00000409366.1_Missense_Mutation_p.F1182S|DYSF_ENST00000409744.1_Missense_Mutation_p.F1168S|DYSF_ENST00000409582.3_Missense_Mutation_p.F1198S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1181	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.F1199S(1)|p.F1181S(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGTCTCCTTCCTGCACCAG	0.597																																																	2	Substitution - Missense(2)	kidney(2)											81.0	71.0	75.0					2																	71825715		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3542T>C	2.37:g.71825715T>C	ENSP00000258104:p.Phe1181Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794582	0.90453	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	M	0.81802	2.56	0.58432	D	0.999999	D;D;P;D;P;P;P;D;D;D;P;P;D;D	0.61697	0.981;0.99;0.949;0.966;0.742;0.742;0.742;0.972;0.99;0.99;0.911;0.949;0.966;0.985	P;P;P;P;P;P;P;P;P;P;P;P;P;D	0.63113	0.856;0.856;0.786;0.856;0.577;0.577;0.577;0.781;0.856;0.899;0.662;0.786;0.856;0.911	D	0.83661	0.0161	10	0.87932	D	0	-20.9015	13.8382	0.63421	0.0:0.0:0.0:1.0	.	1213;1199;1182;1168;1199;1168;1198;1167;1212;1198;1181;1167;1182;1181	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	1212;1198;1198;1181;1181;1213;1182;1168;1182;1199;1199	ENSP00000407046:F1212S;ENSP00000387137:F1198S;ENSP00000386547:F1198S;ENSP00000398305:F1181S;ENSP00000258104:F1181S;ENSP00000386683:F1213S;ENSP00000377678:F1182S;ENSP00000386285:F1168S;ENSP00000386512:F1182S;ENSP00000386881:F1199S;ENSP00000386617:F1199S	ENSP00000258104:F1181S	F	+	2	0	DYSF	71679223	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.823000	0.86660	2.160000	0.67779	0.533000	0.62120	TTC		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494	
FAM157B	100132403	broad.mit.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																																	0																																												100132403					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA		Somatic		WXS	Illumina GAIIx	Phase_I		In_Frame_Ins	INS	ENST00000446912.2	37																																																																																					0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000055378.2		NM_001145249	
HIST2H2AB	317772	broad.mit.edu	37	1	149859428	149859428	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149859428A>G	ENST00000331128.3	-	1	38	c.39T>C	c.(37-39)gcT>gcC	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A13A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACTTGGCCTTAGCGCGGGCCT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	63.0	61.0					1																	149859428		2202	4290	6492	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.39T>C	1.37:g.149859428A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.587	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1		NM_175065	
HUWE1	10075	broad.mit.edu	37	X	53586385	53586385	+	Silent	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:53586385G>T	ENST00000342160.3	-	56	8302	c.7845C>A	c.(7843-7845)atC>atA	p.I2615I	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Silent_p.I2615I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2615					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I2478I(1)|p.I2615I(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AACGGGCGATGATGTGGACGT	0.572																																																	2	Substitution - coding silent(2)	kidney(2)											89.0	70.0	77.0					X																	53586385		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7845C>A	X.37:g.53586385G>T		Somatic		WXS	Illumina GAIIx	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466214	0.26335	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.98	3.12	0.35913	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42599	-0.9442	4	.	.	.	.	5.3056	0.15801	0.2542:0.0:0.6061:0.1397	.	.	.	.	N	1649	.	.	H	-	1	0	HUWE1	53603110	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	2.623000	0.46435	0.208000	0.20626	0.600000	0.82982	CAT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
YWHAEP7	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:36214775G>T	ENST00000590732.1	-	0	291					NR_024178.1													p.T41N(6)									CTTGCCAGTGGTAGCTGCTGG	0.353																																																	6	Substitution - Missense(6)	endometrium(5)|kidney(1)																																										284100																															17.37:g.36214775G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000590732.1	37																																																																																					0.353	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			
LOC401010	401010	broad.mit.edu	37	2	132201085	132201085	+	IGR	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:132201085C>A								AC073869.19 (34463 upstream) : RP11-109E12.1 (18308 downstream)																							CGTCAGGGCACGGATGCAGTG	0.597																																																	0																																										SO:0001628	intergenic_variant	401010																															2.37:g.132201085C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.597									
PRAMEF1	65121	broad.mit.edu	37	1	12853441	12853441	+	Missense_Mutation	SNP	C	C	A	rs75270454		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:12853441C>A	ENST00000332296.7	+	2	168	c.65C>A	c.(64-66)gCc>gAc	p.A22D	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	22					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A22D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACCAGGCCTTGTCCATC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											71.0	79.0	76.0					1																	12853441		2202	4294	6496	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.65C>A	1.37:g.12853441C>A	ENSP00000332134:p.Ala22Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095223	0.08681	.	.	ENSG00000116721	ENST00000332296	T	0.18016	2.24	1.64	-2.04	0.07343	.	0.350802	0.29537	N	0.011869	T	0.18173	0.0436	M	0.73217	2.22	0.09310	N	1	P	0.48089	0.905	P	0.48400	0.576	T	0.11397	-1.0589	10	0.48119	T	0.1	.	1.0347	0.01546	0.2203:0.4057:0.217:0.157	.	22	O95521	PRAM1_HUMAN	D	22	ENSP00000332134:A22D	ENSP00000332134:A22D	A	+	2	0	PRAMEF1	12776028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.611000	0.05709	-3.517000	0.00032	GCC		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1		NM_023013	
SYVN1	84447	broad.mit.edu	37	11	64897312	64897312	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:64897312T>C	ENST00000377190.3	-	14	1578	c.1484A>G	c.(1483-1485)cAt>cGt	p.H495R	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.H494R|SYVN1_ENST00000294256.8_Missense_Mutation_p.H494R|SYVN1_ENST00000307289.6_Missense_Mutation_p.H443R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	495					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.H495R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCCGCTCATGGCCCTCCAG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											37.0	42.0	40.0					11																	64897312		2201	4297	6498	SO:0001583	missense	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1484A>G	11.37:g.64897312T>C	ENSP00000366395:p.His495Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479132	0.26511	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.09073	3.02;3.02;3.19;3.02	4.61	4.61	0.57282	.	0.128646	0.51477	D	0.000081	T	0.05777	0.0151	L	0.33485	1.01	0.40290	D	0.978497	P;B;B	0.38020	0.615;0.358;0.244	B;B;B	0.28638	0.092;0.055;0.025	T	0.47799	-0.9089	10	0.19590	T	0.45	-11.5124	11.9897	0.53168	0.0:0.0:0.0:1.0	.	443;494;495	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	R	495;494;495;443;494	ENSP00000366395:H495R;ENSP00000294256:H494R;ENSP00000302035:H443R;ENSP00000436984:H494R	ENSP00000294256:H494R	H	-	2	0	SYVN1	64653888	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	4.478000	0.60230	1.947000	0.56498	0.459000	0.35465	CAT		0.652	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1		NM_032431	
TELO2	9894	broad.mit.edu	37	16	1550655	1550655	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:1550655C>T	ENST00000262319.6	+	9	1515	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	412					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.V412V(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCAGAGGTCGTTAGTGCCC	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	42.0	40.0					16																	1550655		2198	4298	6496	SO:0001819	synonymous_variant	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1236C>T	16.37:g.1550655C>T		Somatic		WXS	Illumina GAIIx	Phase_I	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																				0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111	
KRT16P6	353194	broad.mit.edu	37	17	16722824	16722824	+	RNA	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:16722824G>A	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							GTTCTTCTCTGCCATCTTCTC	0.552																																																	0																																												0																															17.37:g.16722824G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000602730.1	37																																																																																					0.552	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000468034.1			
AC136604.1	0	broad.mit.edu	37	5	179078891	179078891	+	Missense_Mutation	SNP	T	T	C	rs567530098		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr5:179078891T>C	ENST00000425471.1	+	2	374	c.374T>C	c.(373-375)cTg>cCg	p.L125P	AC136604.1_ENST00000418535.2_Missense_Mutation_p.L125P														p.L125P(3)		kidney(1)	1						TCACCAAACCTGACCAGCTCC	0.587																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	0																														ENST00000425471.1:c.374T>C	5.37:g.179078891T>C	ENSP00000388857:p.Leu125Pro	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000425471.1	37		.	.	.	.	.	.	.	.	.	.	C	0.032	-1.325882	0.01309	.	.	ENSG00000228259	ENST00000418535;ENST00000425471	T;T	0.52983	0.64;1.93	0.346	-0.693	0.11298	.	.	.	.	.	T	0.25005	0.0607	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	6	0.22109	T	0.4	.	.	.	.	.	47	Q8NA96	YE027_HUMAN	P	125	ENSP00000404996:L125P;ENSP00000388857:L125P	ENSP00000404996:L125P	L	+	2	0	AC136604.1	179011497	0.015000	0.18098	0.001000	0.08648	0.017000	0.09413	-0.878000	0.04192	-1.618000	0.01568	-1.386000	0.01163	CTG		0.587	AC136604.1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				
