#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
ACSM2A	123876	broad.mit.edu;hgsc.bcm.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																																	0																																										SO:0001589	frameshift_variant	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1		NM_001010845	
AQR	9716	broad.mit.edu;ucsc.edu	37	15	35236588	35236588	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:35236588T>G	ENST00000156471.5	-	6	597	c.372A>C	c.(370-372)aaA>aaC	p.K124N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	124					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K124N(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCAAGATGTGTTTAAAAAAGA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											168.0	165.0	166.0					15																	35236588		1823	4081	5904	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.372A>C	15.37:g.35236588T>G	ENSP00000156471:p.Lys124Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862626	0.51482	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93811	-3.29	5.31	1.23	0.21249	.	0.042884	0.85682	D	0.000000	D	0.86079	0.5847	L	0.45137	1.4	0.47183	D	0.999341	P	0.36683	0.565	B	0.24006	0.05	T	0.77923	-0.2406	10	0.29301	T	0.29	-19.4919	9.8036	0.40779	0.0:0.6161:0.0:0.3839	.	124	O60306	AQR_HUMAN	N	124	ENSP00000156471:K124N	ENSP00000156471:K124N	K	-	3	2	AQR	33023880	0.988000	0.35896	0.908000	0.35775	0.895000	0.52256	0.317000	0.19487	-0.029000	0.13827	-0.912000	0.02778	AAA		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691	
ARMCX5	64860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101857839	101857841	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:101857839_101857841delCTC	ENST00000604957.1	+	1	3392_3394	c.770_772delCTC	c.(769-774)actcct>act	p.P258del	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_In_Frame_Del_p.P258del|ARMCX5_ENST00000536530.1_In_Frame_Del_p.P258del|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_In_Frame_Del_p.P258del|ARMCX5_ENST00000246174.2_In_Frame_Del_p.P258del|ARMCX5_ENST00000541409.1_In_Frame_Del_p.P258del	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	258										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTGATTGAAACTCCTCTGGGGAT	0.473																																																	0																																										SO:0001651	inframe_deletion	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.770_772delCTC	X.37:g.101857842_101857844delCTC	ENSP00000474720:p.Pro258del	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	In_Frame_Del	DEL	ENST00000604957.1	37	CCDS14500.1																																																																																				0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1		NM_022838	
ASCC3	10973	hgsc.bcm.edu;ucsc.edu	37	6	101049749	101049749	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:101049749delT	ENST00000369162.2	-	34	5584	c.5240delA	c.(5239-5241)aagfs	p.K1747fs		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1747					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCATCTTGCTTAGATGTAAT	0.398																																																	0													151.0	146.0	148.0					6																	101049749		2203	4300	6503	SO:0001589	frameshift_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5240delA	6.37:g.101049749delT	ENSP00000358159:p.Lys1747fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	ENST00000369162.2	37	CCDS5046.1																																																																																				0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828	
ATP6V1A	523	hgsc.bcm.edu;ucsc.edu	37	3	113528254	113528254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:113528254delT	ENST00000273398.3	+	15	1942	c.1834delT	c.(1834-1836)ttcfs	p.F612fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.F579fs|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	612					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GCAGAATGCATTCCGTAGCCT	0.388																																																	0													105.0	101.0	102.0					3																	113528254		2203	4300	6503	SO:0001589	frameshift_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1834delT	3.37:g.113528254delT	ENSP00000273398:p.Phe612fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	CCDS2976.1																																																																																				0.388	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690	
BTNL8	79908	hgsc.bcm.edu	37	5	180375376	180375379	+	Splice_Site	DEL	GTAA	GTAA	-	rs576733269|rs367749603	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	GTAA	GTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:180375376_180375379delGTAA	ENST00000340184.4	+	5	1014		c.e5+1		BTNL8_ENST00000400707.3_Splice_Site|BTNL8_ENST00000231229.4_Splice_Site|BTNL8_ENST00000505126.1_Splice_Site|BTNL8_ENST00000508408.1_Intron|BTNL8_ENST00000533815.2_Splice_Site|BTNL8_ENST00000511704.1_Splice_Site	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGAACTGGGTAAGTATGTGTCA	0.554														173	0.0345447	0.0083	0.085	5008	,	,		17128	0.0397		0.0577	False		,,,				2504	0.0051																1	Unknown(1)	prostate(1)							,,,,,	13,4195		6,1,2097					,,,,,	-3.0	0.0		dbSNP_119	331	108,7704		43,22,3841	no	splice-5,splice-5,splice-5,intron,splice-5,splice-5	BTNL8	NM_024850.2,NM_001159710.1,NM_001159709.1,NM_001159708.1,NM_001159707.1,NM_001040462.2	,,,,,	49,23,5938	A1A1,A1R,RR		1.3825,0.3089,1.0067	,,,,,	,,,,,		121,11899				SO:0001630	splice_region_variant	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.808+1GTAA>-	5.37:g.180375376_180375379delGTAA		Somatic		WXS	Illumina HiSeq	Phase_I	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	CCDS43413.1																																																																																				0.554	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1		NM_024850	Intron
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620394	56620394	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:56620394A>T	ENST00000321691.3	-	1	1335	c.1154T>A	c.(1153-1155)aTg>aAg	p.M385K	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	385								p.M385K(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTTGGGACATGTAAGTAAT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											152.0	138.0	143.0					17																	56620394		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1154T>A	17.37:g.56620394A>T	ENSP00000354874:p.Met385Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	A	3.803	-0.041318	0.07452	.	.	ENSG00000181013	ENST00000321691	T	0.29142	1.58	4.46	-4.91	0.03085	.	1.584660	0.03490	N	0.216469	T	0.12433	0.0302	N	0.14661	0.345	0.09310	N	1	B	0.21606	0.058	B	0.14578	0.011	T	0.23084	-1.0198	10	0.02654	T	1	2.7387	4.1063	0.10038	0.363:0.0:0.3723:0.2647	.	385	Q8NEP4	CQ047_HUMAN	K	385	ENSP00000354874:M385K	ENSP00000354874:M385K	M	-	2	0	C17orf47	53975393	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.044000	0.03532	-0.590000	0.05866	0.459000	0.35465	ATG		0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704	
SPATC1L	84221	broad.mit.edu;hgsc.bcm.edu	37	21	47588274	47588274	+	Silent	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr21:47588274C>T	ENST00000291672.5	-	3	1553	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SPATC1L_ENST00000330205.6_Silent_p.S10S	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	164								p.S164S(1)|p.S10S(1)									GGCTGCTCTCCGAGAAACACA	0.662																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	40.0	42.0					21																	47588274		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.492G>A	21.37:g.47588274C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	ENST00000291672.5	37	CCDS46653.1																																																																																				0.662	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1		NM_032261	
CAPN3	825	hgsc.bcm.edu;ucsc.edu	37	15	42701963	42701963	+	Intron	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:42701963C>G	ENST00000397163.3	+	18	2211				CAPN3_ENST00000318023.7_Intron|CAPN3_ENST00000397204.4_Intron|CAPN3_ENST00000561817.1_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Intron|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000569136.1_Intron|CAPN3_ENST00000357568.3_Intron|CAPN3_ENST00000397200.4_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)						apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACCATGACCCTCCTCTCCC	0.488																																																	0													141.0	134.0	136.0					15																	42701963		2203	4299	6502	SO:0001627	intron_variant	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1993-22C>G	15.37:g.42701963C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	RNA	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																				0.488	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			
CAPN6	827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	110494226	110494226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:110494226G>T	ENST00000324068.1	-	8	1244	c.1077C>A	c.(1075-1077)tgC>tgA	p.C359*	CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C104*	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	359	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.C359*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCACAGTCCAGCATCCCAACA	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											324.0	283.0	297.0					X																	110494226		2203	4300	6503	SO:0001587	stop_gained	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1077C>A	X.37:g.110494226G>T	ENSP00000317214:p.Cys359*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUY7|Q9UEQ1|Q9UJA8	Nonsense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	38	6.768040	0.97825	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	.	.	.	5.95	4.17	0.49024	.	0.453696	0.24165	N	0.040954	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.6377	0.08155	0.2574:0.0:0.4556:0.2869	.	.	.	.	X	359;104	.	ENSP00000317214:C359X	C	-	3	2	CAPN6	110380882	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.006000	0.29847	0.626000	0.30322	0.600000	0.82982	TGC		0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	105400639	105400639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:105400639delA	ENST00000264122.4	-	15	2546	c.2225delT	c.(2224-2226)atgfs	p.M742fs	CBLB_ENST00000403724.1_Frame_Shift_Del_p.M742fs|CBLB_ENST00000405772.1_Frame_Shift_Del_p.M742fs|CBLB_ENST00000394027.3_Frame_Shift_Del_p.M764fs|CBLB_ENST00000407712.1_Start_Codon_Del	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	742	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCCATTCAGCATACAGTGACC	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													81.0	82.0	82.0					3																	105400639		2203	4300	6503	SO:0001589	frameshift_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2225delT	3.37:g.105400639delA	ENSP00000264122:p.Met742fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Frame_Shift_Del	DEL	ENST00000264122.4	37	CCDS2948.1																																																																																				0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662	
CCDC127	133957	hgsc.bcm.edu;ucsc.edu	37	5	205842	205847	+	In_Frame_Del	DEL	TTCTTT	TTCTTT	-	rs192206351		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	TTCTTT	TTCTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:205842_205847delTTCTTT	ENST00000296824.3	-	3	480_485	c.348_353delAAAGAA	c.(346-354)gaaaagaag>gag	p.KK117del		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	117										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TTCCAGAAGCTTCTTTTCTTCTACCA	0.485																																																	0																																										SO:0001651	inframe_deletion	133957			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.348_353delAAAGAA	5.37:g.205842_205847delTTCTTT	ENSP00000296824:p.Lys117_Lys118del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000296824.3	37	CCDS3852.1																																																																																				0.485	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2		NM_145265	
CD82	3732	broad.mit.edu	37	11	44639740	44639740	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:44639740A>G	ENST00000227155.4	+	8	715	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.Y131C	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	156						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y156C(1)		large_intestine(1)|ovary(1)	2						GTCAGCTTCTACAACTGGACA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											60.0	52.0	55.0					11																	44639740		2203	4299	6502	SO:0001583	missense	3732			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.467A>G	11.37:g.44639740A>G	ENSP00000227155:p.Tyr156Cys	Somatic		WXS	Illumina GAIIx	Phase_I	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	37	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324222	0.41197	.	.	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000530601	T;T;T	0.79141	-1.24;-1.24;-1.24	4.69	-8.84	0.00803	Tetraspanin, EC2 domain (1);	1.872410	0.02177	N	0.060177	T	0.78444	0.4284	L	0.57536	1.79	0.09310	N	0.999998	P;D	0.58970	0.901;0.984	P;P	0.56343	0.796;0.748	T	0.75764	-0.3203	10	0.56958	D	0.05	.	5.6298	0.17504	0.2039:0.3479:0.0:0.4482	.	131;156	E9PC70;P27701	.;CD82_HUMAN	C	156;131;137	ENSP00000227155:Y156C;ENSP00000339686:Y131C;ENSP00000433788:Y137C	ENSP00000227155:Y156C	Y	+	2	0	CD82	44596316	0.000000	0.05858	0.020000	0.16555	0.619000	0.37552	-0.678000	0.05209	-1.067000	0.03160	0.459000	0.35465	TAC		0.602	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			
CDH2	1000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	25532271	25532271	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr18:25532271A>T	ENST00000269141.3	-	16	2990	c.2567T>A	c.(2566-2568)tTa>tAa	p.L856*	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Nonsense_Mutation_p.L825*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	856					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L856*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCAAACACTAACAGGGAGTC	0.478											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Nonsense(1)	kidney(1)											100.0	96.0	97.0					18																	25532271		2203	4300	6503	SO:0001587	stop_gained	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2567T>A	18.37:g.25532271A>T	ENSP00000269141:p.Leu856*	Somatic	779	WXS	Illumina HiSeq	Phase_I	A8MWK3|B0YIY6|Q14923|Q8N173	Nonsense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	38	6.640340	0.97726	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6592	0.77169	1.0:0.0:0.0:0.0	.	.	.	.	X	856;825	.	ENSP00000269141:L856X	L	-	2	0	CDH2	23786269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.095000	0.63458	0.482000	0.46254	TTA		0.478	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792	
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49089548	49089548	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:49089548G>T	ENST00000380950.2	-	5	677	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	CEP152_ENST00000399334.3_Missense_Mutation_p.Q164K|CEP152_ENST00000325747.5_Intron	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	164					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.Q164K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGGTTGCTTGGTTATTAAAT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											152.0	140.0	144.0					15																	49089548		1846	4081	5927	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.490C>A	15.37:g.49089548G>T	ENSP00000370337:p.Gln164Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667669	0.67814	.	.	ENSG00000103995	ENST00000380950;ENST00000399334;ENST00000541880	T;T	0.79940	-1.32;-1.32	4.31	4.31	0.51392	.	0.325796	0.29034	N	0.013346	D	0.87958	0.6309	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.79784	0.993;0.991	D	0.88923	0.3367	10	0.59425	D	0.04	-13.9087	15.1359	0.72566	0.0:0.0:1.0:0.0	.	164;164	E7ER66;O94986	.;CE152_HUMAN	K	164	ENSP00000370337:Q164K;ENSP00000382271:Q164K	ENSP00000370337:Q164K	Q	-	1	0	CEP152	46876840	0.999000	0.42202	0.189000	0.23252	0.959000	0.62525	5.544000	0.67231	2.228000	0.72767	0.467000	0.42956	CAA		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		NM_014985	
CSMD2	114784	broad.mit.edu;ucsc.edu	37	1	34189862	34189862	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:34189862C>A	ENST00000373381.4	-	19	3112	c.2936G>T	c.(2935-2937)gGg>gTg	p.G979V		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	939	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G939V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGGGAACCCTGGCGACAA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											113.0	100.0	105.0					1																	34189862		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2936G>T	1.37:g.34189862C>A	ENSP00000362479:p.Gly979Val	Somatic		WXS	Illumina GAIIx	Phase_I	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.019685	0.93462	.	.	ENSG00000121904	ENST00000373381	T	0.18174	2.23	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58869	-0.7560	10	0.87932	D	0	.	18.7083	0.91646	0.0:1.0:0.0:0.0	.	939;979	Q7Z408;E7EUA6	CSMD2_HUMAN;.	V	979	ENSP00000362479:G979V	ENSP00000241312:G939V	G	-	2	0	CSMD2	33962449	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.661000	0.90470	0.561000	0.74099	GGG		0.532	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896	
CYP17A1	1586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104596868	104596868	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:104596868T>A	ENST00000369887.3	-	1	422	c.251A>T	c.(250-252)gAg>gTg	p.E84V	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	84					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.E84V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AATAAGCACCTCCTTGGCCAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											109.0	91.0	97.0					10																	104596868		2203	4300	6503	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.251A>T	10.37:g.104596868T>A	ENSP00000358903:p.Glu84Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	t	22.8	4.339667	0.81911	.	.	ENSG00000148795	ENST00000369887	T	0.71698	-0.59	5.36	5.36	0.76844	.	0.048729	0.85682	D	0.000000	D	0.86772	0.6013	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89634	0.3857	10	0.87932	D	0	.	15.3105	0.74028	0.0:0.0:0.0:1.0	.	84	P05093	CP17A_HUMAN	V	84	ENSP00000358903:E84V	ENSP00000358903:E84V	E	-	2	0	CYP17A1	104586858	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.401000	0.79962	2.154000	0.67381	0.375000	0.23000	GAG		0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1		NM_000102	
DENR	8562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123238330	123238330	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:123238330C>G	ENST00000280557.6	+	2	268	c.82C>G	c.(82-84)Cca>Gca	p.P28A	DENR_ENST00000455982.2_Missense_Mutation_p.P28A	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	28					formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)	p.P28A(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		TGCCGATTACCCACTTCGAGT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											130.0	129.0	129.0					12																	123238330		1931	4153	6084	SO:0001583	missense	8562			AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.82C>G	12.37:g.123238330C>G	ENSP00000280557:p.Pro28Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3U6|Q9UKZ0	Missense_Mutation	SNP	ENST00000280557.6	37	CCDS45003.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616677	0.87359	.	.	ENSG00000139726	ENST00000280557;ENST00000455982	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86308	0.1684	9	0.59425	D	0.04	-11.7116	18.0502	0.89345	0.0:1.0:0.0:0.0	.	28;28	F8VVL1;O43583	.;DENR_HUMAN	A	28	.	ENSP00000280557:P28A	P	+	1	0	DENR	121804283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.807000	0.62576	2.348000	0.79779	0.491000	0.48974	CCA		0.433	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1		NM_003677	
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061																4	Substitution - Missense(4)	central_nervous_system(2)|lung(1)|kidney(1)																																								SO:0001630	splice_region_variant	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			Missense_Mutation
EPHA6	285220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	97198177	97198177	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:97198177G>C	ENST00000514100.1	+	6	461	c.219G>C	c.(217-219)gaG>gaC	p.E73D	EPHA6_ENST00000389672.5_Missense_Mutation_p.E681D|EPHA6_ENST00000442602.2_Missense_Mutation_p.E47D|EPHA6_ENST00000502694.1_Missense_Mutation_p.E73D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	587	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E681D(1)|p.E587D(1)|p.E73D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTCAGAAGAGAAGAGAAGAA	0.343																																																	3	Substitution - Missense(3)	kidney(3)											167.0	174.0	171.0					3																	97198177		1844	4092	5936	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.219G>C	3.37:g.97198177G>C	ENSP00000421711:p.Glu73Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.172978	0.38413	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.83	4.02	0.46733	.	.	.	.	.	T	0.08447	0.0210	L	0.29908	0.895	0.35371	D	0.789091	B;B;B;B	0.20368	0.044;0.0;0.01;0.009	B;B;B;B	0.14023	0.009;0.001;0.009;0.01	T	0.18461	-1.0336	9	0.26408	T	0.33	.	11.0589	0.47936	0.2006:0.0:0.7994:0.0	.	47;586;73;73	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	D	681;73;73;47	ENSP00000374323:E681D;ENSP00000421711:E73D;ENSP00000423950:E73D;ENSP00000403100:E47D	ENSP00000374323:E681D	E	+	3	2	EPHA6	98680867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.284000	0.33249	1.471000	0.48121	0.655000	0.94253	GAG		0.343	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1		NM_001080448	
ERVFRD-1	405754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11105212	11105212	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:11105212C>A	ENST00000472091.1	-	2	707	c.332G>T	c.(331-333)gGa>gTa	p.G111V	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.G111V	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	111					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.G111V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						AAAGATGGGTCCGAAAATGGG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											114.0	117.0	116.0					6																	11105212		2203	4300	6503	SO:0001583	missense	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.332G>T	6.37:g.11105212C>A	ENSP00000420174:p.Gly111Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816087	0.32145	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.59364	0.27;0.27	0.235	0.235	0.15431	.	.	.	.	.	T	0.48390	0.1497	L	0.32530	0.975	0.30540	N	0.766519	D	0.76494	0.999	D	0.87578	0.998	T	0.37596	-0.9699	8	0.87932	D	0	.	.	.	.	.	111	P60508	EFRD1_HUMAN	V	111	ENSP00000420174:G111V;ENSP00000444461:G111V	ENSP00000420174:G111V	G	-	2	0	ERVFRD-1	11213198	0.463000	0.25799	0.311000	0.25182	0.316000	0.28119	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GGA		0.423	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1		NM_207582	
FAS	355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90762874	90762874	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:90762874C>T	ENST00000355279.2	+	2	119	c.119C>T	c.(118-120)aCt>aTt	p.T40I	FAS_ENST00000357339.2_Missense_Mutation_p.T40I|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Missense_Mutation_p.T40I|FAS_ENST00000355740.2_Missense_Mutation_p.T40I			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T40I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TTGAGGAAGACTGTTACTACA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											140.0	127.0	131.0					10																	90762874		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.119C>T	10.37:g.90762874C>T	ENSP00000347426:p.Thr40Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355279.2	37	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134786	0.06711	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;T;D;T	0.93247	-3.19;-0.76;-2.19;-0.68	3.1	-0.634	0.11516	.	.	.	.	.	D	0.82944	0.5147	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.13145	0.007;0.0;0.001;0.0	B;B;B;B	0.12156	0.007;0.001;0.002;0.001	T	0.68424	-0.5412	9	0.34782	T	0.22	-3.9294	1.1957	0.01874	0.3136:0.3795:0.1227:0.1841	.	40;40;40;40	P25445-4;P25445-6;Q5T9P3;P25445	.;.;.;TNR6_HUMAN	I	67;40;40;40;40;40	ENSP00000347979:T40I;ENSP00000345601:T40I;ENSP00000349896:T40I;ENSP00000347426:T40I	ENSP00000345601:T40I	T	+	2	0	FAS	90752854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.459000	0.06728	-0.414000	0.07495	-1.786000	0.00637	ACT		0.428	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86089421	86089421	+	Silent	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:86089421C>T	ENST00000330753.4	+	2	2330	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	FLRT2_ENST00000554746.1_Silent_p.N521N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	521					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.N521N(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCTGAACAACGGCAGCAACA	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	102.0	103.0					14																	86089421		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1563C>T	14.37:g.86089421C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.567	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			
HIVEP2	3097	broad.mit.edu;ucsc.edu	37	6	143081503	143081503	+	Silent	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:143081503A>G	ENST00000367604.1	-	8	6561	c.5922T>C	c.(5920-5922)acT>acC	p.T1974T	HIVEP2_ENST00000012134.2_Silent_p.T1974T|HIVEP2_ENST00000367603.2_Silent_p.T1974T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1974					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.T1974T(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TACTTGGCAAAGTAACCAAAT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - coding silent(1)	kidney(1)											171.0	155.0	160.0					6																	143081503		1900	4123	6023	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5922T>C	6.37:g.143081503A>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			
IGFBP4	3487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38610249	38610249	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:38610249C>T	ENST00000269593.4	+	3	852	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	IGFBP4_ENST00000542955.1_Missense_Mutation_p.H93Y	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	193	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.H193Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAGCCGCACCCACGAGGACCT	0.657																																					GBM(160;940 3581 26177)												1	Substitution - Missense(1)	kidney(1)											103.0	97.0	99.0					17																	38610249		2203	4300	6503	SO:0001583	missense	3487			M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.577C>T	17.37:g.38610249C>T	ENSP00000269593:p.His193Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251942	0.80135	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.63255	-0.03;-0.03	5.91	5.91	0.95273	Thyroglobulin type-1 (4);	0.048706	0.85682	D	0.000000	T	0.69043	0.3067	L	0.44542	1.39	0.46564	D	0.999103	D	0.61080	0.989	P	0.62740	0.906	T	0.60332	-0.7284	10	0.09084	T	0.74	-2.8538	18.0867	0.89460	0.0:1.0:0.0:0.0	.	193	P22692	IBP4_HUMAN	Y	93;193	ENSP00000437734:H93Y;ENSP00000269593:H193Y	ENSP00000269593:H193Y	H	+	1	0	IGFBP4	35863775	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.936000	0.63506	2.793000	0.96121	0.655000	0.94253	CAC		0.657	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1		NM_001552	
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64968907	64968907	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:64968907G>C	ENST00000399262.2	-	9	3001	c.2783C>G	c.(2782-2784)tCc>tGc	p.S928C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S709C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S746C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S709C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	928					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.S928C(1)|p.S709C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCTGCACTGGAAGGTCTGAC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											119.0	111.0	113.0					10																	64968907		1896	4115	6011	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2783C>G	10.37:g.64968907G>C	ENSP00000382204:p.Ser928Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098222	0.94197	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.03	6.03	0.97812	.	0.108992	0.64402	D	0.000004	T	0.70605	0.3243	L	0.60455	1.87	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	P;D	0.66196	0.897;0.942	T	0.70547	-0.4842	10	0.87932	D	0	-6.9312	20.5666	0.99351	0.0:0.0:1.0:0.0	.	928;746	Q15652;A0T124	JHD2C_HUMAN;.	C	928;709;709;746	ENSP00000382204:S928C;ENSP00000384990:S709C;ENSP00000382195:S709C;ENSP00000444682:S746C	ENSP00000382195:S709C	S	-	2	0	JMJD1C	64638913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.854000	0.98071	0.655000	0.94253	TCC		0.448	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241	
JMJD4	65094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227921679	227921679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:227921679C>T	ENST00000366758.3	-	3	620	c.621G>A	c.(619-621)tgG>tgA	p.W207*	JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Nonsense_Mutation_p.W207*|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	207	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.							p.W207*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				ACTCATTCAGCCAGTCGGACG	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											146.0	117.0	127.0					1																	227921679		2203	4300	6503	SO:0001587	stop_gained	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.621G>A	1.37:g.227921679C>T	ENSP00000355720:p.Trp207*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBZ1|Q5TBZ6|Q9H970	Nonsense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.022835|4.022835	0.75275|0.75275	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000438896|ENST00000366758	.|.	.|.	.|.	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34424|.	0.0897|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31833|.	-0.9929|.	3|.	.|0.02654	.|T	.|1	-20.6051|-20.6051	14.3236|14.3236	0.66505|0.66505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	200|207	.|.	.|ENSP00000355720:W207X	G|W	-|-	2|3	0|0	JMJD4|JMJD4	225988302|225988302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.427000|0.427000	0.31564|0.31564	6.960000|6.960000	0.76036|0.76036	2.291000|2.291000	0.77112|0.77112	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.617	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1		NM_023007	
KCNH3	23416	hgsc.bcm.edu;ucsc.edu	37	12	49935453	49935453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:49935453delG	ENST00000257981.6	+	3	611	c.351delG	c.(349-351)aagfs	p.K117fs	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	117	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCCATAAAGAATGAGAAAG	0.542																																																	0													181.0	193.0	189.0					12																	49935453		2203	4300	6503	SO:0001589	frameshift_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.351delG	12.37:g.49935453delG	ENSP00000257981:p.Lys117fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQ06	Frame_Shift_Del	DEL	ENST00000257981.6	37	CCDS8786.1																																																																																				0.542	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2		NM_012284	
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	rs377674724		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:24596226C>T	ENST00000378214.3	-	3	1200	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A217T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											55.0	51.0	53.0					6																	24596226		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.676G>A	6.37:g.24596226C>T	ENSP00000367459:p.Ala226Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529049	0.13127	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.09	-0.0303	0.13915	.	1.262540	0.05663	N	0.587336	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.18561	0.022;0.015;0.01	T	0.48736	-0.9009	10	0.30078	T	0.28	-1.0065	2.1653	0.03835	0.1341:0.4937:0.1308:0.2414	.	226;217;226	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	226;217;181;226;226	ENSP00000439700:A226T;ENSP00000442403:A217T;ENSP00000401086:A181T;ENSP00000367459:A226T;ENSP00000437656:A226T	ENSP00000367459:A226T	A	-	1	0	KIAA0319	24704205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.246000	0.09611	-1.077000	0.02231	GCC		0.562	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1		NM_014809	
KIAA1731	85459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	93436013	93436013	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:93436013G>A	ENST00000325212.6	+	17	5686	c.5524G>A	c.(5524-5526)Gac>Aac	p.D1842N	KIAA1731_ENST00000531700.1_Intron|KIAA1731_ENST00000411936.1_Missense_Mutation_p.D1842N|KIAA1731_ENST00000344196.4_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1842						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D1842N(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTGGTTTGGACTTAAACCA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											104.0	92.0	95.0					11																	93436013		692	1591	2283	SO:0001583	missense	85459			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5524G>A	11.37:g.93436013G>A	ENSP00000316681:p.Asp1842Asn	Somatic		WXS	Illumina HiSeq	Phase_I	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	37	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513376	0.85389	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.22539	1.95;1.95	5.66	4.75	0.60458	.	0.269820	0.26560	N	0.023683	T	0.22742	0.0549	L	0.55990	1.75	0.80722	D	1	P	0.46277	0.875	B	0.40825	0.341	T	0.02705	-1.1121	10	0.72032	D	0.01	-14.0446	12.4357	0.55598	0.0781:0.0:0.9219:0.0	.	1842	Q9C0D2	K1731_HUMAN	N	1842	ENSP00000316681:D1842N;ENSP00000406505:D1842N	ENSP00000316681:D1842N	D	+	1	0	KIAA1731	93075661	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	3.064000	0.49986	1.391000	0.46566	0.561000	0.74099	GAC		0.388	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1		NM_033395	
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11919652	11919652	+	Missense_Mutation	SNP	G	G	A	rs367859334		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:11919652G>A	ENST00000256720.2	+	6	823	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	LPIN1_ENST00000396097.1_5'UTR|LPIN1_ENST00000396098.1_Missense_Mutation_p.G286S|LPIN1_ENST00000396099.1_Missense_Mutation_p.G286S|LPIN1_ENST00000449576.2_Missense_Mutation_p.G329S|LPIN1_ENST00000425416.2_Missense_Mutation_p.G250S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	244					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.G244S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGTCCTTCCGGTTCCCGACC	0.453											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)						G	SER/GLY	0,4406		0,0,2203	86.0	86.0	86.0		730	0.6	0.9	2		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPIN1	NM_145693.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	244/891	11919652	1,13005	2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.730G>A	2.37:g.11919652G>A	ENSP00000256720:p.Gly244Ser	Somatic	675	WXS	Illumina HiSeq	Phase_I	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354542	0.24512	0.0	1.16E-4	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.87650	-1.31;-2.28;-1.3;-1.27;-1.27	4.85	0.569	0.17340	.	2.789360	0.00786	N	0.001318	D	0.83418	0.5250	L	0.59436	1.845	0.09310	N	0.999997	P;B;P	0.40875	0.676;0.018;0.731	B;B;B	0.38296	0.146;0.007;0.27	T	0.66532	-0.5900	10	0.20519	T	0.43	-2.2024	5.2921	0.15733	0.0707:0.1257:0.5437:0.2598	.	329;244;286	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	329;286;286;250;244	ENSP00000397908:G329S;ENSP00000379405:G286S;ENSP00000379406:G286S;ENSP00000401522:G250S;ENSP00000256720:G244S	ENSP00000256720:G244S	G	+	1	0	LPIN1	11837103	0.982000	0.34865	0.905000	0.35620	0.730000	0.41778	2.482000	0.45224	0.178000	0.19917	0.557000	0.71058	GGT		0.453	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693	
LRFN5	145581	broad.mit.edu	37	14	42356893	42356893	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:42356893T>A	ENST00000298119.4	+	3	2254	c.1065T>A	c.(1063-1065)ttT>ttA	p.F355L	LRFN5_ENST00000554171.1_Missense_Mutation_p.F355L|LRFN5_ENST00000554120.1_Missense_Mutation_p.F355L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	355	Ig-like.					integral component of membrane (GO:0016021)		p.F355L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAGGTGCTTTTACCTGCATTG	0.393										HNSCC(30;0.082)																																							1	Substitution - Missense(1)	kidney(1)											92.0	92.0	92.0					14																	42356893		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1065T>A	14.37:g.42356893T>A	ENSP00000298119:p.Phe355Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.235168	0.58886	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.74315	-0.83;-0.83;-0.83	5.4	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	D	0.82646	0.5082	M	0.69185	2.1	0.53005	D	0.999967	D;D	0.65815	0.987;0.995	D;D	0.72338	0.927;0.977	T	0.83003	-0.0176	10	0.87932	D	0	.	9.6393	0.39828	0.0:0.0834:0.0:0.9166	.	355;355	G3V364;Q96NI6	.;LRFN5_HUMAN	L	355	ENSP00000298119:F355L;ENSP00000451897:F355L;ENSP00000451067:F355L	ENSP00000298119:F355L	F	+	3	2	LRFN5	41426643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	0.988000	0.38734	0.460000	0.39030	TTT		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447	
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33622348	33622348	+	Splice_Site	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:33622348C>G	ENST00000404816.2	+	33	5336	c.4983C>G	c.(4981-4983)gtC>gtG	p.V1661V	LTBP1_ENST00000404525.1_Splice_Site_p.V1282V|LTBP1_ENST00000354476.3_Splice_Site_p.V1662V|LTBP1_ENST00000390003.4_Splice_Site_p.V1336V|LTBP1_ENST00000402934.1_Splice_Site_p.V1280V|LTBP1_ENST00000407925.1_Splice_Site_p.V1335V|LTBP1_ENST00000418533.2_Splice_Site_p.V1293V|LTBP1_ENST00000272273.5_Splice_Site_p.V559V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1661				V -> F (in Ref. 1; AAA61160). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V1662V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGACCTGTGTCGGTAAGAATG	0.433																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											189.0	162.0	171.0					2																	33622348		2203	4300	6503	SO:0001630	splice_region_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4984+1C>G	2.37:g.33622348C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																				0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943	Silent
LYG1	129530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99901199	99901199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:99901199C>A	ENST00000409448.1	-	7	734	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYG1_ENST00000308528.4_Nonsense_Mutation_p.E140*			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	140					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.E140*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CTCTGGATTTCTTTGATTCTA	0.498																																																	1	Substitution - Nonsense(1)	kidney(1)											89.0	92.0	91.0					2																	99901199		2203	4300	6503	SO:0001587	stop_gained	129530			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.418G>T	2.37:g.99901199C>A	ENSP00000386923:p.Glu140*	Somatic		WXS	Illumina HiSeq	Phase_I	Q53RV9	Nonsense_Mutation	SNP	ENST00000409448.1	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523882	0.96431	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.55	4.55	0.56014	.	0.119180	0.37348	N	0.002121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2931	12.6753	0.56891	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	.	E	-	1	0	LYG1	99267631	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.279000	0.43435	2.370000	0.80446	0.561000	0.74099	GAA		0.498	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1		NM_174898	
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu	37	X	19398325	19398325	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:19398325G>C	ENST00000338883.4	-	19	2501	c.2502C>G	c.(2500-2502)atC>atG	p.I834M	MAP3K15_ENST00000469203.2_Missense_Mutation_p.I666M|MAP3K15_ENST00000359173.3_Missense_Mutation_p.I269M|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.I881M(1)|p.I309M(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCAGGGACCAGATATCGGCTG	0.542																																																	2	Substitution - Missense(2)	kidney(2)											59.0	49.0	52.0					X																	19398325		2202	4300	6502	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2502C>G	X.37:g.19398325G>C	ENSP00000345629:p.Ile834Met	Somatic		WXS	Illumina HiSeq	Phase_I	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	G	19.29	3.798338	0.70567	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.27720	1.65;1.65;1.65	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.57458	-0.7808	10	0.87932	D	0	.	13.0244	0.58806	0.0783:0.0:0.9216:0.0	.	309;834	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	M	834;269;666	ENSP00000345629:I834M;ENSP00000352093:I269M;ENSP00000428356:I666M	ENSP00000345629:I834M	I	-	3	3	MAP3K15	19308246	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.759000	0.62227	2.385000	0.81259	0.600000	0.82982	ATC		0.542	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671	
MGAM	8972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141752123	141752123	+	Silent	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr7:141752123C>A	ENST00000549489.2	+	25	2930	c.2835C>A	c.(2833-2835)ctC>ctA	p.L945L	MGAM_ENST00000475668.2_Silent_p.L945L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	945					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L945L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATCTTCTCCTGGGAGAAG	0.403																																																	3	Substitution - coding silent(3)	kidney(3)											57.0	51.0	53.0					7																	141752123		1865	4101	5966	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2835C>A	7.37:g.141752123C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.403	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			
MPP2	4355	broad.mit.edu	37	17	41960604	41960604	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:41960604C>G	ENST00000461854.1	-	5	427	c.342G>C	c.(340-342)gaG>gaC	p.E114D	MPP2_ENST00000269095.4_Missense_Mutation_p.E90D|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000377184.3_Missense_Mutation_p.E107D|MPP2_ENST00000536246.1_Missense_Mutation_p.E79D|MPP2_ENST00000523501.1_Missense_Mutation_p.E79D|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.E135D			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	114	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.E90D(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGTGGGCCAGCTCGGCGGCTG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											22.0	23.0	22.0					17																	41960604		2202	4300	6502	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.342G>C	17.37:g.41960604C>G	ENSP00000428286:p.Glu114Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	c	15.04	2.714169	0.48622	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241;ENST00000521178	T;T;T;T;T;T;T;T;T;T;T	0.69926	2.35;2.55;2.37;2.39;2.39;2.47;0.1;-0.44;-0.44;-0.2;-0.3	4.03	2.97	0.34412	L27, C-terminal (1);L27 (2);	.	.	.	.	T	0.66858	0.2832	M	0.65320	2	0.52501	D	0.999954	P;P;P	0.45011	0.848;0.628;0.706	P;P;B	0.47827	0.558;0.558;0.422	T	0.69774	-0.5054	9	0.62326	D	0.03	.	8.5261	0.33307	0.0:0.8727:0.0:0.1273	.	135;114;107	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	D	107;90;114;79;79;135;73;90;79;90;96;90	ENSP00000366389:E107D;ENSP00000269095:E90D;ENSP00000428286:E114D;ENSP00000430540:E79D;ENSP00000438012:E79D;ENSP00000428182:E135D;ENSP00000428468:E73D;ENSP00000428354:E90D;ENSP00000430797:E90D;ENSP00000428938:E96D;ENSP00000430443:E90D	ENSP00000269095:E90D	E	-	3	2	MPP2	39316130	0.991000	0.36638	0.998000	0.56505	0.149000	0.21700	0.389000	0.20751	2.090000	0.63153	0.549000	0.68633	GAG		0.657	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2		NM_005374	
MUC21	394263	hgsc.bcm.edu	37	6	30954438	30954438	+	Silent	SNP	C	C	T	rs41288646	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:30954438C>T	ENST00000376296.3	+	2	727	c.486C>T	c.(484-486)gcC>gcT	p.A162A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	162	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTGAGGCCAGCACAGCCA	0.617													C|||	26	0.00519169	0.0038	0.0086	5008	,	,		24561	0.002		0.007	False		,,,				2504	0.0061																0													145.0	136.0	139.0					6																	30954438		2203	4300	6503	SO:0001819	synonymous_variant	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.486C>T	6.37:g.30954438C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909	
MUC4	4585	hgsc.bcm.edu	37	3	195506102	195506102	+	Missense_Mutation	SNP	C	C	T	rs553395016	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:195506102C>T	ENST00000463781.3	-	2	12808	c.12349G>A	c.(12349-12351)Gac>Aac	p.D4117N	MUC4_ENST00000475231.1_Missense_Mutation_p.D4117N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4117N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.592													.|||	454	0.090655	0.2595	0.0692	5008	,	,		9516	0.0079		0.0527	False		,,,				2504	0.002																1	Substitution - Missense(1)	endometrium(1)											11.0	8.0	9.0					3																	195506102		548	1415	1963	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12349G>A	3.37:g.195506102C>T	ENSP00000417498:p.Asp4117Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	2.910	-0.225635	0.06022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.46;1.43	0.423	-0.846	0.10734	.	.	.	.	.	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	P	0.47841	0.901	B	0.26202	0.067	T	0.22382	-1.0218	8	.	.	.	.	2.8162	0.05456	0.0:0.2525:0.2572:0.4903	.	3989	E7ESK3	.	N	4117	ENSP00000417498:D4117N;ENSP00000420243:D4117N	.	D	-	1	0	MUC4	196990881	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.395000	0.07287	-1.994000	0.00972	-1.862000	0.00560	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195510060	195510107	+	In_Frame_Del	DEL	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	-	rs200190375|rs200366897|rs200663432|rs550853768|rs560632835|rs557762770|rs546803078|rs7375093|rs199854975|rs201999503|rs199610793	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:195510060_195510107delGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	ENST00000463781.3	-	2	8803_8850	c.8344_8391delGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCAC	c.(8344-8391)gccacccctcttcatgtcaccagcccttcctcagcatccacaggtcacdel	p.ATPLHVTSPSSASTGH2782del	MUC4_ENST00000475231.1_In_Frame_Del_p.ATPLHVTSPSSASTGH2782del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H2797D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTG	0.585																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8344_8391delGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCAC	3.37:g.195510060_195510107delGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	ENSP00000417498:p.Ala2782_His2797del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu;hgsc.bcm.edu	37	3	195512921	195512921	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:195512921T>C	ENST00000463781.3	-	2	5989	c.5530A>G	c.(5530-5532)Acc>Gcc	p.T1844A	MUC4_ENST00000475231.1_Missense_Mutation_p.T1844A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1844A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGGGATGGTGACAGGAAGA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											86.0	65.0	71.0					3																	195512921		692	1591	2283	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5530A>G	3.37:g.195512921T>C	ENSP00000417498:p.Thr1844Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.481	-0.105876	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35605	1.3;1.48	0.423	0.423	0.16463	.	1.826270	0.06000	U	0.647533	T	0.18173	0.0436	N	0.19112	0.55	0.09310	N	1	B	0.33494	0.414	B	0.22386	0.039	T	0.18178	-1.0345	9	.	.	.	.	3.2652	0.06863	1.0E-4:1.0E-4:0.4469:0.5529	.	1844	E7ESK3	.	A	1844	ENSP00000417498:T1844A;ENSP00000420243:T1844A	.	T	-	1	0	MUC4	196997316	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.901000	0.01597	0.413000	0.25759	0.076000	0.15429	ACC		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC5B	727897	hgsc.bcm.edu	37	11	1272671	1272671	+	Missense_Mutation	SNP	T	T	C	rs200249076		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:1272671T>C	ENST00000529681.1	+	31	14619	c.14561T>C	c.(14560-14562)aTa>aCa	p.I4854T	MUC5B_ENST00000447027.1_Missense_Mutation_p.I4857T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4854	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAGCACTATAGCCACCGTG	0.632																																																	0													102.0	124.0	116.0					11																	1272671		2153	4229	6382	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14561T>C	11.37:g.1272671T>C	ENSP00000436812:p.Ile4854Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078560	0.07141	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19532	2.14;2.33	2.32	-1.96	0.07525	.	.	.	.	.	T	0.06096	0.0158	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30504	-0.9976	9	0.87932	D	0	.	3.5138	0.07717	0.1434:0.548:0.1775:0.1311	.	5176;4857	A7Y9J9;E9PBJ0	.;.	T	4854;4857;4798;4553	ENSP00000436812:I4854T;ENSP00000415793:I4857T	ENSP00000343037:I4798T	I	+	2	0	MUC5B	1229247	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.476000	0.00986	-0.624000	0.05611	-1.386000	0.01163	ATA		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093	
MYLIP	29116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	16146960	16146960	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:16146960T>C	ENST00000356840.3	+	7	1514	c.1316T>C	c.(1315-1317)cTt>cCt	p.L439P	MYLIP_ENST00000349606.4_Missense_Mutation_p.L258P|U3_ENST00000515984.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	439					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L439P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CACACCAGTCTTCTCAATCTG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											203.0	155.0	171.0					6																	16146960		2203	4300	6503	SO:0001583	missense	29116			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1316T>C	6.37:g.16146960T>C	ENSP00000349298:p.Leu439Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.719666	0.89205	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.83673	-1.75;0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.88104	0.2821	10	0.87932	D	0	.	15.4413	0.75184	0.0:0.0:0.0:1.0	.	439	Q8WY64	MYLIP_HUMAN	P	439;258	ENSP00000349298:L439P;ENSP00000008686:L258P	ENSP00000008686:L258P	L	+	2	0	MYLIP	16254939	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	7.900000	0.87376	2.039000	0.60335	0.482000	0.46254	CTT		0.443	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1		NM_013262	
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C	rs375759831		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GAGCTGCTGGATGAGAAAGAG	0.483																																																	0																																										SO:0001583	missense	400818			AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.74A>C	1.37:g.144220807A>C	ENSP00000358380:p.Asp25Ala	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000369373.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.405|7.405	0.633647|0.633647	0.14322|0.14322	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07021|.	3.23|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	P;.;B;B|.	0.52842|.	0.956;.;0.04;0.002|.	P;.;B;B|.	0.57502|.	0.822;.;0.074;0.015|.	T|.	0.29610|.	-1.0006|.	4|.	0.33940|.	T|.	0.23|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	A|L	25|3576	ENSP00000358380:D25A|.	ENSP00000358380:D25A|.	D|M	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932164|142932164	0.533000|0.533000	0.26354|0.26354	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAT|ATG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
NEFH	4744	hgsc.bcm.edu	37	22	29885593	29885594	+	In_Frame_Ins	INS	-	-	TGAGAAGGCCAAGTCCCC	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr22:29885593_29885594insTGAGAAGGCCAAGTCCCC	ENST00000310624.6	+	4	1997_1998	c.1964_1965insTGAGAAGGCCAAGTCCCC	c.(1963-1968)ccagag>ccTGAGAAGGCCAAGTCCCCagag	p.655_656PE>PEKAKSPE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCCAAGTCCCCAGAGAAGGAAG	0.554																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1947_1964dupTGAGAAGGCCAAGTCCCC	22.37:g.29885593_29885594insTGAGAAGGCCAAGTCCCC	ENSP00000311997:p.Glu650_Pro655dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.554	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
NHP2	55651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	177576774	177576774	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:177576774C>G	ENST00000274606.3	-	4	551	c.402G>C	c.(400-402)gaG>gaC	p.E134D	NHP2_ENST00000314397.4_3'UTR|RMND5B_ENST00000515098.1_3'UTR	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	134					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E134D(1)		endometrium(1)|kidney(1)|ovary(2)	4						CCTCCTGGTACTCCTCATGGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											59.0	65.0	63.0					5																	177576774		2203	4300	6503	SO:0001583	missense	55651			AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"""nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)"", ""NHP2 ribonucleoprotein homolog (yeast)"""	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.402G>C	5.37:g.177576774C>G	ENSP00000274606:p.Glu134Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKY8|Q9P095	Missense_Mutation	SNP	ENST00000274606.3	37	CCDS4432.1	.	.	.	.	.	.	.	.	.	.	c	8.276	0.814404	0.16607	.	.	ENSG00000145912	ENST00000274606	T	0.56275	0.47	5.55	-11.1	0.00147	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.306471	0.39210	N	0.001440	T	0.09992	0.0245	N	0.00500	-1.43	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50533	-0.8817	10	0.02654	T	1	-26.2529	8.1152	0.30940	0.0785:0.5408:0.2671:0.1136	.	134	Q9NX24	NHP2_HUMAN	D	134	ENSP00000274606:E134D	ENSP00000274606:E134D	E	-	3	2	NHP2	177509380	0.000000	0.05858	0.484000	0.27391	0.961000	0.63080	-3.006000	0.00650	-2.541000	0.00485	-0.345000	0.07892	GAG		0.602	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253471.1		NM_017838	
OR5L1	219437	broad.mit.edu;hgsc.bcm.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:55579578G>T	ENST00000333973.2	+	1	725	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											246.0	197.0	214.0					11																	55579578		2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.636G>T	11.37:g.55579578G>T	ENSP00000335529:p.Met212Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	10.87	1.471917	0.26423	.	.	ENSG00000186117	ENST00000333973	T	0.32988	1.43	4.12	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.509250	0.03868	N	0.275104	T	0.08714	0.0216	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31166	-0.9953	10	0.49607	T	0.09	0.007	4.7613	0.13110	0.0721:0.209:0.189:0.5299	.	212	Q8NGL2	OR5L1_HUMAN	I	212	ENSP00000335529:M212I	ENSP00000335529:M212I	M	+	3	0	OR5L1	55336154	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.057000	0.01395	-1.428000	0.01989	0.428000	0.28381	ATG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1		NM_001004738	
OR5AR1	219493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56432011	56432011	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:56432011A>T	ENST00000302969.2	+	1	874	c.850A>T	c.(850-852)Atg>Ttg	p.M284L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M284L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATCATCCCCATGTTAAATCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	66.0					11																	56432011		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.850A>T	11.37:g.56432011A>T	ENSP00000302639:p.Met284Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658029	0.29425	.	.	ENSG00000172459	ENST00000302969	T	0.36699	1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.32376	0.0827	L	0.58810	1.83	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.29912	-0.9996	10	0.62326	D	0.03	.	6.4353	0.21819	0.7589:0.1588:0.0823:0.0	.	284	Q8NGP9	O5AR1_HUMAN	L	284	ENSP00000302639:M284L	ENSP00000302639:M284L	M	+	1	0	OR5AR1	56188587	0.001000	0.12720	1.000000	0.80357	0.868000	0.49771	0.510000	0.22723	2.128000	0.65567	0.467000	0.42956	ATG		0.408	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1		NM_001004730	
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141242928	141242928	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:141242928T>A	ENST00000394536.3	-	3	3107	c.2968A>T	c.(2968-2970)Aag>Tag	p.K990*	PCDH1_ENST00000287008.3_Nonsense_Mutation_p.K990*|PCDH1_ENST00000456271.1_Nonsense_Mutation_p.K978*|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.K968*|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	990					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K990*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACCTGGTGCTTCTTGGAGGCT	0.627																																					Ovarian(132;1609 1739 4190 14731 45037)												1	Substitution - Nonsense(1)	kidney(1)											71.0	63.0	65.0					5																	141242928		2203	4300	6503	SO:0001587	stop_gained	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2968A>T	5.37:g.141242928T>A	ENSP00000378043:p.Lys990*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUP2	Nonsense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	39	7.381287	0.98248	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	.	.	.	4.59	4.59	0.56863	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9639	0.53023	0.0:0.0:0.0:1.0	.	.	.	.	X	990;990;978;1001;968	.	ENSP00000287008:K990X	K	-	1	0	PCDH1	141223112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.509000	0.81698	1.932000	0.55993	0.375000	0.23000	AAG		0.627	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420	
PLCG2	5336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	81954855	81954855	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:81954855G>A	ENST00000359376.3	+	21	2502	c.2288G>A	c.(2287-2289)aGt>aAt	p.S763N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	763					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S763N(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTGGATCCCAGTGAAATCAAT	0.433																																																	2	Substitution - Missense(2)	kidney(2)											116.0	109.0	111.0					16																	81954855		1929	4142	6071	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2288G>A	16.37:g.81954855G>A	ENSP00000352336:p.Ser763Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026746	0.07589	.	.	ENSG00000197943	ENST00000359376	T	0.66815	-0.23	5.05	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.224756	0.53938	D	0.000047	T	0.38480	0.1042	N	0.03608	-0.345	0.35484	D	0.798391	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.001	T	0.43147	-0.9409	10	0.02654	T	1	.	13.5493	0.61723	0.0:0.1557:0.8443:0.0	.	630;763	B4E3H3;P16885	.;PLCG2_HUMAN	N	763	ENSP00000352336:S763N	ENSP00000352336:S763N	S	+	2	0	PLCG2	80512356	1.000000	0.71417	0.935000	0.37517	0.961000	0.63080	2.942000	0.49018	2.496000	0.84212	0.467000	0.42956	AGT		0.433	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			
PPP6R3	55291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68315579	68315579	+	Silent	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:68315579T>A	ENST00000393800.2	+	5	713	c.459T>A	c.(457-459)atT>atA	p.I153I	PPP6R3_ENST00000529710.1_Silent_p.I153I|PPP6R3_ENST00000265637.4_Silent_p.I153I|PPP6R3_ENST00000534534.1_Silent_p.I62I|PPP6R3_ENST00000524845.1_Silent_p.I153I|PPP6R3_ENST00000265636.5_Silent_p.I153I|PPP6R3_ENST00000524904.1_Silent_p.I153I|PPP6R3_ENST00000527403.2_Silent_p.I153I|PPP6R3_ENST00000393801.3_Silent_p.I153I|PPP6R3_ENST00000393799.2_Silent_p.I153I	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	153					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.I153I(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAGACCTTATTATAAAGCACA	0.388																																																	2	Substitution - coding silent(2)	kidney(2)											126.0	121.0	123.0					11																	68315579		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.459T>A	11.37:g.68315579T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312	
PPRC1	23082	broad.mit.edu	37	10	103907139	103907139	+	Silent	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:103907139A>C	ENST00000278070.2	+	9	4429	c.4390A>C	c.(4390-4392)Agg>Cgg	p.R1464R	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.R431R	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1464	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1464R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCACACAAGAGGTGGCGAAG	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	68.0	72.0					10																	103907139		2203	4300	6503	SO:0001819	synonymous_variant	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4390A>C	10.37:g.103907139A>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062	
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	3'UTR	INS	-	-	T	rs140176282|rs200683929|rs560402019	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:57512916_57512917insT	ENST00000389488.2	+	0	1831_1832				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0.53																																																	0																																										SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1829->T	6.37:g.57512924_57512924dupT		Somatic		WXS	Illumina GAIIx	Phase_I	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37																																																																																					0.530	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947	
PRIM2	5558	broad.mit.edu	37	6	57512930	57512931	+	3'UTR	INS	-	-	GT	rs376018139|rs377732635|rs143949713		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:57512930_57512931insGT	ENST00000389488.2	+	0	1845_1846				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tttttgtagagggggggtctcc	0.525																																																	0																																										SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1843->GT	6.37:g.57512930_57512931insGT		Somatic		WXS	Illumina GAIIx	Phase_I	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37																																																																																					0.525	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947	
RAPGEF6	51735	broad.mit.edu;ucsc.edu	37	5	130825242	130825242	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:130825242A>C	ENST00000509018.1	-	15	2042	c.1837T>G	c.(1837-1839)Ttt>Gtt	p.F613V	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.F663V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.F613V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.F613V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.F613V|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.F328V|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.F613V|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.F613V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	613	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.F613V(3)|p.F663V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTCACCAAAAATGTTGGTC	0.299																																					Melanoma(168;435 1955 13113 13877 23213)												4	Substitution - Missense(4)	kidney(4)											64.0	66.0	66.0					5																	130825242		2202	4290	6492	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1837T>G	5.37:g.130825242A>C	ENSP00000421684:p.Phe613Val	Somatic		WXS	Illumina GAIIx	Phase_I	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867098	0.72065	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.17370	2.37;2.37;2.37;2.37;2.37;2.37;2.28;2.37	5.73	5.73	0.89815	PDZ/DHR/GLGF (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.42245	1.32	0.80722	D	1	P;P;P;B;P;P;B	0.41524	0.638;0.638;0.575;0.439;0.638;0.753;0.273	B;B;B;B;B;B;B	0.43052	0.23;0.313;0.312;0.165;0.313;0.406;0.165	T	0.00839	-1.1545	10	0.66056	D	0.02	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	613;613;613;328;663;613;613	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	V	613;613;613;613;613;328;613;613;663	ENSP00000421684:F613V;ENSP00000309298:F613V;ENSP00000426081:F613V;ENSP00000296859:F613V;ENSP00000426910:F328V;ENSP00000311419:F613V;ENSP00000425389:F613V;ENSP00000426948:F663V	ENSP00000426948:F663V	F	-	1	0	RAPGEF6;FNIP1	130853141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.180000	0.69256	0.533000	0.62120	TTT		0.299	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340	
RGPD2	729857	broad.mit.edu	37	2	88125182	88125182	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:88125182C>G	ENST00000398146.3	-	1	289	c.67G>C	c.(67-69)Gga>Cga	p.G23R	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	23					protein targeting to Golgi (GO:0000042)			p.G23R(1)		breast(1)|pancreas(1)	2						CTCACCTTTCCAGGCGACGGG	0.736																																																	1	Substitution - Missense(1)	kidney(1)											5.0	15.0	12.0					2																	88125182		438	1209	1647	SO:0001583	missense	400966				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.67G>C	2.37:g.88125182C>G	ENSP00000381214:p.Gly23Arg	Somatic		WXS	Illumina GAIIx	Phase_I	P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	ENST00000398146.3	37	CCDS42710.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.830580	0.00070	.	.	ENSG00000185304	ENST00000398146	T	0.36157	1.27	1.6	0.627	0.17675	.	.	.	.	.	T	0.11793	0.0287	N	0.04508	-0.205	0.31530	N	0.661281	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	9	0.02654	T	1	-2.4203	3.8381	0.08903	0.0:0.2709:0.453:0.2761	.	23	B4DYH0	.	R	23	ENSP00000381214:G23R	ENSP00000381214:G23R	G	-	1	0	RGPD2	87906297	0.981000	0.34729	0.060000	0.19600	0.004000	0.04260	0.570000	0.23653	-0.429000	0.07329	-3.214000	0.00053	GGA		0.736	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2		NM_001078170	
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63958010	63958010	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:63958010T>G	ENST00000373789.3	-	12	1583	c.1487A>C	c.(1486-1488)gAt>gCt	p.D496A	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	496					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.D496A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCCTTTTTCATCATGTAATGG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											191.0	190.0	190.0					10																	63958010		2203	4300	6503	SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1487A>C	10.37:g.63958010T>G	ENSP00000362894:p.Asp496Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522989	0.27211	.	.	ENSG00000182010	ENST00000373789	T	0.32272	1.46	5.61	5.61	0.85477	.	0.369448	0.32314	N	0.006263	T	0.28366	0.0701	L	0.54323	1.7	0.80722	D	1	P	0.35745	0.518	B	0.34590	0.186	T	0.06197	-1.0840	10	0.07813	T	0.8	-10.4234	15.8076	0.78527	0.0:0.0:0.0:1.0	.	496	Q8IZC4	RTKN2_HUMAN	A	496	ENSP00000362894:D496A	ENSP00000362894:D496A	D	-	2	0	RTKN2	63628016	0.034000	0.19679	0.994000	0.49952	0.809000	0.45718	1.254000	0.32897	2.147000	0.66899	0.533000	0.62120	GAT		0.418	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1		NM_145307	
SLC5A11	115584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24920266	24920266	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:24920266T>A	ENST00000347898.3	+	14	2121	c.1499T>A	c.(1498-1500)aTt>aAt	p.I500N	SLC5A11_ENST00000539472.1_Missense_Mutation_p.I436N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I344N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.I430N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I430N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I436N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I465N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I465N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I344N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.I500N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGACTTTATTTACGTGCAG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											87.0	66.0	73.0					16																	24920266		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1499T>A	16.37:g.24920266T>A	ENSP00000289932:p.Ile500Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813595	0.50527	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.98	4.89	0.63831	.	0.148917	0.64402	D	0.000012	T	0.70527	0.3234	M	0.78049	2.395	0.30961	N	0.723605	D;D;P;P	0.56521	0.96;0.976;0.756;0.895	P;P;P;P	0.53518	0.728;0.724;0.453;0.548	T	0.73017	-0.4115	10	0.35671	T	0.21	.	10.3452	0.43901	0.0:0.0774:0.0:0.9226	.	430;465;500;344	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	N	500;344;465;430;436	ENSP00000289932:I500N;ENSP00000389606:I344N;ENSP00000416782:I465N;ENSP00000441384:I430N;ENSP00000441018:I436N	ENSP00000289932:I500N	I	+	2	0	SLC5A11	24827767	0.251000	0.23961	0.010000	0.14722	0.490000	0.33462	3.404000	0.52623	1.079000	0.41038	0.482000	0.46254	ATT		0.567	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3		NM_052944	
SLC5A11	115584	broad.mit.edu;ucsc.edu	37	16	24920271	24920271	+	Missense_Mutation	SNP	G	G	C	rs373043652		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:24920271G>C	ENST00000347898.3	+	14	2126	c.1504G>C	c.(1504-1506)Gtg>Ctg	p.V502L	SLC5A11_ENST00000539472.1_Missense_Mutation_p.V438L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.V346L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V432L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V432L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V438L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V467L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V467L|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V346L	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.V502L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTTATTTACGTGCAGCCTCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											91.0	68.0	76.0					16																	24920271		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1504G>C	16.37:g.24920271G>C	ENSP00000289932:p.Val502Leu	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426177	0.25726	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.98	1.55	0.23275	.	1.071990	0.07063	N	0.834006	T	0.51941	0.1704	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.23058	0.004;0.079;0.027;0.043	B;B;B;B	0.23419	0.003;0.046;0.021;0.024	T	0.39502	-0.9611	10	0.36615	T	0.2	.	6.9712	0.24650	0.1627:0.2762:0.5611:0.0	.	432;467;502;346	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	L	502;346;467;432;438	ENSP00000289932:V502L;ENSP00000389606:V346L;ENSP00000416782:V467L;ENSP00000441384:V432L;ENSP00000441018:V438L	ENSP00000289932:V502L	V	+	1	0	SLC5A11	24827772	0.000000	0.05858	0.006000	0.13384	0.487000	0.33371	-0.010000	0.12743	0.057000	0.16193	-0.216000	0.12614	GTG		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3		NM_052944	
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86369560	86369560	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr13:86369560G>T	ENST00000400286.2	-	2	1682	c.1084C>A	c.(1084-1086)Ccg>Acg	p.P362T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	362					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.P362T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGATTTTGCGGAGGAGGTCTC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											96.0	87.0	90.0					13																	86369560		1855	4107	5962	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1084C>A	13.37:g.86369560G>T	ENSP00000383143:p.Pro362Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125085	0.56721	.	.	ENSG00000184564	ENST00000400286	T	0.61627	0.09	5.86	5.86	0.93980	.	0.128151	0.53938	D	0.000044	T	0.77123	0.4084	M	0.81497	2.545	0.58432	D	0.999994	D	0.76494	0.999	D	0.64144	0.922	T	0.79337	-0.1845	10	0.87932	D	0	-15.6779	18.7589	0.91842	0.0:0.0:1.0:0.0	.	362	Q9H5Y7	SLIK6_HUMAN	T	362	ENSP00000383143:P362T	ENSP00000383143:P362T	P	-	1	0	SLITRK6	85267561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.520000	0.67080	2.780000	0.95670	0.585000	0.79938	CCG		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
SOCS7	30837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36523827	36523827	+	Silent	SNP	A	A	G	rs587650322		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:36523827A>G	ENST00000577233.1	+	6	1254	c.1254A>G	c.(1252-1254)ccA>ccG	p.P418P	SOCS7_ENST00000331159.5_Silent_p.P384P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	418	Mediates interaction with SORBS3.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.P418P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AAGGGAAACCAGATGGTTCTT	0.478													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											228.0	197.0	208.0					17																	36523827		2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1254A>G	17.37:g.36523827A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.478	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4		XM_371052	
SSPO	23145	hgsc.bcm.edu	37	7	149516839	149516839	+	RNA	DEL	C	C	-	rs528618910|rs145311298	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr7:149516839delC	ENST00000378016.2	+	0	12041							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTCCCTGGTCCTGGTGTGAC	0.697													CC|CC|C|deletion	406	0.0810703	0.2837	0.0317	5008	,	,		15514	0.0		0.007	False		,,,				2504	0.002																0										831,2461		172,487,987	9.0	15.0	13.0			4.0	1.0	7	dbSNP_134	14	84,7080		18,48,3516	no	frameshift	SSPO	NM_198455.2		190,535,4503	A1A1,A1R,RR		1.1725,25.243,8.751			149516839	915,9541	1593	3760	5353			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516839delC		Somatic		WXS	Illumina HiSeq	Phase_I	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
STH	246744	broad.mit.edu	37	17	44076968	44076968	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:44076968A>C	ENST00000537309.1	+	1	353	c.323A>C	c.(322-324)cAc>cCc	p.H108P	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000420682.2_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H108P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTCCCTCCCACCCTGCAGCT	0.587																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	246744			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.323A>C	17.37:g.44076968A>C	ENSP00000443168:p.His108Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	A	6.352	0.433047	0.12045	.	.	ENSG00000256762	ENST00000537309	T	0.54071	0.59	2.83	-2.36	0.06663	.	.	.	.	.	T	0.39860	0.1094	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.57776	0.827	T	0.30621	-0.9972	9	0.87932	D	0	.	3.8598	0.08991	0.3547:0.3966:0.2487:0.0	.	108	Q8IWL8	STH_HUMAN	P	108	ENSP00000443168:H108P	ENSP00000443168:H108P	H	+	2	0	STH	41432805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.152000	0.10159	-0.615000	0.05679	-0.415000	0.06103	CAC		0.587	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			
TAS2R13	50838	hgsc.bcm.edu;ucsc.edu	37	12	11061401	11061401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:11061401delT	ENST00000390677.2	-	1	760	c.497delA	c.(496-498)aatfs	p.N166fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	166					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CATACTGAAATTCCAAGTTGT	0.353																																																	0													94.0	98.0	96.0					12																	11061401		2203	4300	6503	SO:0001589	frameshift_variant	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.497delA	12.37:g.11061401delT	ENSP00000375095:p.Asn166fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0I5|Q502V8|Q645X2	Frame_Shift_Del	DEL	ENST00000390677.2	37	CCDS8635.1																																																																																				0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			
THBS3	7059	broad.mit.edu;hgsc.bcm.edu	37	1	155172612	155172613	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:155172612_155172613GT>TA	ENST00000368378.3	-	8	967_968	c.947_948AC>TA	c.(946-948)gAC>gTA	p.D316V	THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D196V	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	316	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D316V(1)|p.D316E(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCATTGATGTCACTGCAGTG	0.609																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.947_948delinsTA	1.37:g.155172612_155172613delinsTA	ENSP00000357362:p.Asp316Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1																																																																																				0.609	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112	
TNNI1	7135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201384351	201384351	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:201384351A>G	ENST00000361379.4	-	4	139	c.47T>C	c.(46-48)cTc>cCc	p.L16P	TNNI1_ENST00000555948.1_Missense_Mutation_p.L16P|TNNI1_ENST00000336092.4_Missense_Mutation_p.L16P|TNNI1_ENST00000367312.1_Missense_Mutation_p.L16P	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	16	Involved in binding TNC.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)	p.L16P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTTCAGCAAGAGTTTGCGGGA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											41.0	43.0	42.0					1																	201384351		2203	4300	6503	SO:0001583	missense	7135			BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.47T>C	1.37:g.201384351A>G	ENSP00000354488:p.Leu16Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.480973	0.44044	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000556362	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95253	0.8361	10	0.38643	T	0.18	-2.0678	13.9222	0.63940	1.0:0.0:0.0:0.0	.	16	P19237	TNNI1_HUMAN	P	16	ENSP00000354488:L16P;ENSP00000337022:L16P;ENSP00000451307:L16P;ENSP00000356281:L16P;ENSP00000451776:L16P	ENSP00000337022:L16P	L	-	2	0	TNNI1	199650974	1.000000	0.71417	0.875000	0.34327	0.242000	0.25591	8.628000	0.90979	1.743000	0.51761	0.528000	0.53228	CTC		0.582	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1		NM_003281	
TRMT61B	55006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29073074	29073074	+	Silent	SNP	T	T	C	rs377283695		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:29073074T>C	ENST00000306108.5	-	7	1448	c.1425A>G	c.(1423-1425)caA>caG	p.Q475Q	SPDYA_ENST00000379579.4_3'UTR|SPDYA_ENST00000334056.5_3'UTR|TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	475					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.Q475Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTCAGTTAAGTTGTGGTTTGA	0.289																																																	1	Substitution - coding silent(1)	kidney(1)						T	,,	0,4406		0,0,2203	78.0	79.0	79.0		,1425,	-3.0	0.0	2		79	2,8596	2.2+/-6.3	0,2,4297	no	utr-3,coding-synonymous,utr-3	TRMT61B,SPDYA	NM_001142634.1,NM_017910.3,NM_182756.3	,,	0,2,6500	CC,CT,TT		0.0233,0.0,0.0154	,,	,475/478,	29073074	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1425A>G	2.37:g.29073074T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.738621	0.00681	0.0	2.33E-4	ENSG00000171103	ENST00000419999	.	.	.	5.54	-3.03	0.05429	.	.	.	.	.	T	0.28167	0.0695	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31779	-0.9931	4	.	.	.	.	6.9446	0.24512	0.0:0.3127:0.3252:0.3621	.	.	.	.	A	100	.	.	T	-	1	0	TRMT61B	28926578	0.000000	0.05858	0.015000	0.15790	0.131000	0.20780	-0.463000	0.06696	-0.687000	0.05162	0.533000	0.62120	ACT		0.289	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1		NM_017910	
UNC5B	219699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73050863	73050863	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:73050863C>T	ENST00000335350.6	+	9	1707	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P420S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	431					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.P431S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GACGGCAAGGCCCAGTAAGAA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											150.0	144.0	146.0					10																	73050863		2203	4300	6503	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1291C>T	10.37:g.73050863C>T	ENSP00000334329:p.Pro431Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966312	0.34659	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.99;0.9	5.39	5.39	0.77823	.	0.108239	0.64402	D	0.000004	T	0.32164	0.0820	L	0.27053	0.805	0.53688	D	0.999978	P;B	0.34800	0.469;0.339	B;B	0.33121	0.158;0.11	T	0.06844	-1.0804	10	0.16420	T	0.52	-32.2971	19.1392	0.93441	0.0:1.0:0.0:0.0	.	420;431	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	431;420	ENSP00000334329:P431S;ENSP00000362288:P420S	ENSP00000334329:P431S	P	+	1	0	UNC5B	72720869	1.000000	0.71417	0.857000	0.33713	0.004000	0.04260	7.797000	0.85911	2.535000	0.85469	0.655000	0.94253	CCC		0.602	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1		NM_170744	
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193216	20193216	+	RNA	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:20193216G>T	ENST00000558565.2	-	0	51									immunoglobulin heavy variable 3/OR15-7 (pseudogene)																		ACCTCACACTGGACACCTGCA	0.537																																																	0																																												0			Z29597		15q11.2	2012-06-12	2011-04-15		ENSG00000259490	ENSG00000259490		"""Immunoglobulins / IGH orphons"""	5633	pseudogene	immunoglobulin pseudogene			"""immunoglobulin heavy variable 3/OR15-7"", ""immunoglobulin heavy variable 3/OR15-7 pseudogene"""				Standard			Approved	IGHV3/OR15-7			OTTHUMG00000171835		15.37:g.20193216G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000558565.2	37																																																																																					0.537	IGHV3OR15-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415305.2			
MIR4477B	100616194	broad.mit.edu	37	9	68414523	68414523	+	RNA	SNP	A	A	G	rs4352957		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr9:68414523A>G	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		tgctctagaaatggaacatca	0.388																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68414523A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581659.1	37																																																																																					0.388	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61450407	61450407	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:61450407G>T	ENST00000398571.2	-	63	7696	c.7620C>A	c.(7618-7620)gaC>gaA	p.D2540E	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2540					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D2540E(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGCTGCCATGTCAGTCTGTG	0.308																																																	1	Substitution - Missense(1)	kidney(1)											139.0	130.0	133.0					2																	61450407		1848	4097	5945	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7620C>A	2.37:g.61450407G>T	ENSP00000381577:p.Asp2540Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517173|2.517173	0.44763|0.44763	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.10288|.	2.89|.	5.91|5.91	-1.16|-1.16	0.09678|0.09678	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60907|0.60907	0.2305|0.2305	L|L	0.61218|0.61218	1.895|1.895	0.49687|0.49687	D|D	0.99981|0.99981	D|.	0.56746|.	0.977|.	P|.	0.52909|.	0.713|.	T|T	0.59236|0.59236	-0.7492|-0.7492	10|5	0.48119|.	T|.	0.1|.	.|.	11.4375|11.4375	0.50076|0.50076	0.5488:0.0:0.4512:0.0|0.5488:0.0:0.4512:0.0	.|.	2540|.	Q70CQ2|.	UBP34_HUMAN|.	E|N	2388;2388;2540|300	ENSP00000381577:D2540E|.	ENSP00000263989:D2388E|.	D|H	-|-	3|1	2|0	USP34|USP34	61303911|61303911	0.999000|0.999000	0.42202|0.42202	0.727000|0.727000	0.30756|0.30756	0.809000|0.809000	0.45718|0.45718	0.520000|0.520000	0.22878|0.22878	-0.106000|-0.106000	0.12110|0.12110	-0.384000|-0.384000	0.06662|0.06662	GAC|CAT		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VHL	7428	hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02W-1584-10	TCGA-CW-5581-11A-01W-1585-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		Illumina GAIIx	f75c2b3b-b7d6-4364-9abc-65a050b69668	adde7384-5684-4442-b53e-77b0aa93be0d	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8.0	11.0	10.0					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*	Somatic		WXS	PacBio RS	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112902905	112902905	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:112902905G>T	ENST00000161863.4	+	22	3172	c.2959G>T	c.(2959-2961)Gac>Tac	p.D987Y		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	987					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.D987Y(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTCCACGTGGACAGAGAGAA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											148.0	128.0	135.0					5																	112902905		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2959G>T	5.37:g.112902905G>T	ENSP00000161863:p.Asp987Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125081	0.77436	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02944	4.1	5.58	5.58	0.84498	Domain of unknown function DUF1605 (1);	0.057586	0.85682	D	0.000000	T	0.14700	0.0355	M	0.80183	2.485	0.80722	D	1	P	0.51240	0.943	P	0.57009	0.811	T	0.00062	-1.2158	10	0.59425	D	0.04	.	19.5543	0.95335	0.0:0.0:1.0:0.0	.	987	Q9H6S0	YTDC2_HUMAN	Y	987;897	ENSP00000161863:D987Y	ENSP00000161863:D987Y	D	+	1	0	YTHDC2	112930804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.104000	0.71498	2.617000	0.88574	0.655000	0.94253	GAC		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2		NM_022828	
ZBTB41	360023	hgsc.bcm.edu;ucsc.edu	37	1	197159958	197159959	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:197159958_197159959delAA	ENST00000367405.4	-	3	1399_1400	c.1331_1332delTT	c.(1330-1332)tttfs	p.F444fs	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCAGGATGAAATCTATCAGA	0.277																																																	0																																										SO:0001589	frameshift_variant	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1331_1332delTT	1.37:g.197159958_197159959delAA	ENSP00000356375:p.Phe444fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Frame_Shift_Del	DEL	ENST00000367405.4	37	CCDS30960.1																																																																																				0.277	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314	
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2853267	2853267	+	Missense_Mutation	SNP	G	G	A	rs374516727		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr19:2853267G>A	ENST00000334241.4	+	4	1342	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	ZNF555_ENST00000591539.1_Missense_Mutation_p.G401R|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	402					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.G402R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACCAGTGCGGGAAAGCATT	0.483																																																	1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	74.0	62.0	66.0		1201,1204	2.2	0.1	19		66	0,8600		0,0,4300	no	missense,missense	ZNF555	NM_001172775.1,NM_152791.4	125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	401/628,402/629	2853267	2,13004	2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1204G>A	19.37:g.2853267G>A	ENSP00000334853:p.Gly402Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937376	0.52972	4.54E-4	0.0	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.03524	3.9	3.22	2.16	0.27623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	M	0.77313	2.365	0.27843	N	0.941033	D;D	0.89917	1.0;0.999	D;P	0.78314	0.991;0.889	T	0.02491	-1.1151	9	0.66056	D	0.02	.	8.0652	0.30657	0.1277:0.0:0.8723:0.0	.	402;401	Q8NEP9;A8KA89	ZN555_HUMAN;.	R	402;401	ENSP00000334853:G402R	ENSP00000334853:G402R	G	+	1	0	ZNF555	2804267	0.862000	0.29867	0.117000	0.21633	0.518000	0.34316	3.873000	0.56093	0.682000	0.31407	0.561000	0.74099	GGG		0.483	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791	
ZNF709	163051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12574850	12574850	+	Missense_Mutation	SNP	C	C	T	rs183982301	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr19:12574850C>T	ENST00000397732.3	-	4	2057	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	ZNF709_ENST00000428311.1_Missense_Mutation_p.R629H|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	629					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.R629H(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCGAAAGGAACGGGAACACTT	0.393																																					GBM(33;565 669 12371 29134 51667)												1	Substitution - Missense(1)	kidney(1)											140.0	151.0	147.0					19																	12574850		2197	4297	6494	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1886G>A	19.37:g.12574850C>T	ENSP00000380840:p.Arg629His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180512	0.21787	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07908	3.15;3.15	2.51	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	L	0.33792	1.035	0.09310	N	1	P	0.52170	0.951	B	0.35182	0.197	T	0.35375	-0.9791	9	0.87932	D	0	.	3.3457	0.07134	0.5186:0.2465:0.0:0.2349	.	629	Q8N972	ZN709_HUMAN	H	629	ENSP00000380840:R629H;ENSP00000404127:R629H	ENSP00000404127:R629H	R	-	2	0	ZNF709;CTD-2192J16.17	12435850	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-4.030000	0.00310	-0.166000	0.10890	0.655000	0.94253	CGT		0.393	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1		NM_152601	
KDM5C	8242	ucsc.edu	37	X	53222684	53222694	+	Frame_Shift_Del	DEL	TGTGGTTCTCA	TGTGGTTCTCA	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	TGTGGTTCTCA	TGTGGTTCTCA	TGTGGTTCTCA	-	TGTGGTTCTCA	TGTGGTTCTCA	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:53222684_53222694delTGTGGTTCTCA	ENST00000375401.3	-	25	4774_4784	c.4242_4252delTGAGAACCACA	c.(4240-4254)gatgagaaccacagcfs	p.DENHS1414fs	KDM5C_ENST00000452825.3_Frame_Shift_Del_p.DENHS1344fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.DENHS1413fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.DENHS1411fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.DENHS1370fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1414					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGCCATATGCTGTGGTTCTCATCCAGGGTCA	0.64			"""N, F, S"""		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4242_4252delTGAGAACCACA	X.37:g.53222684_53222694delTGTGGTTCTCA	ENSP00000364550:p.Asp1414fs	Somatic		WXS	Illumina HiSeq	.	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.640	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
